Variant report

Variant	rs7525281
Chromosome Location	chr1:46267923-46267924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:46267845-46269463	IMR90	lung:	n/a	n/a
2	JUN	chr1:46267701-46269449	K562	blood:	n/a	chr1:46268571-46268580 chr1:46268572-46268581
3	JUND	chr1:46267732-46269462	SK-N-SH	brain:	n/a	chr1:46268571-46268580 chr1:46268570-46268581 chr1:46268572-46268581

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46267883-46267933	HNPCEpiC	eye:	n/a
2	chr1:46267883-46267933	HepG2	liver:	n/a
3	chr1:46267883-46267933	NH-A	brain:	n/a
4	chr1:46267883-46267933	HCM	heart:	n/a
5	chr1:46267883-46267933	IMR90	lung:	fetal
6	chr1:46267883-46267933	Hepatocyte	liver:	n/a
7	chr1:46267883-46267933	BJ	skin:	n/a
8	chr1:46267883-46267933	HAEpiC	amniotic membrane:	n/a
9	chr1:46267883-46267933	ovcar-3	ovarian:	n/a
10	chr1:46267883-46267933	NT2-D1	testis:	n/a
11	chr1:46267883-46267933	HL-60	blood:	n/a
12	chr1:46267883-46267933	AG04449	skin:	fetal
13	chr1:46267883-46267933	T-47D	breast:	n/a
14	chr1:46267883-46267933	GM19239	blood:	n/a
15	chr1:46267883-46267933	U87	brain:	n/a
16	chr1:46267883-46267933	HCF	heart:	n/a
17	chr1:46267883-46267933	AoSMC	blood vessel:	n/a
18	chr1:46267883-46267933	H1-hESC	embryonic stem cell:	embryo
19	chr1:46267883-46267933	MCF-7	breast:	n/a
20	chr1:46267883-46267933	RPTEC	kidney:	n/a
21	chr1:46267883-46267933	HEEpiC	esophagus:	n/a
22	chr1:46267883-46267933	HRCEpiC	kidney:	n/a
23	chr1:46267883-46267933	NHBE	bronchial:	n/a
24	chr1:46267883-46267933	HRE	kidney:	n/a
25	chr1:46267883-46267933	HIPEpiC	eye:	n/a
26	chr1:46267883-46267933	Jurkat	blood:	n/a
27	chr1:46267883-46267933	HCPEpiC	choroid plexus:	n/a
28	chr1:46267883-46267933	SAEC	small airway:	n/a
29	chr1:46267883-46267933	PANC-1	pancreas:	n/a
30	chr1:46267883-46267933	SK-N-SH_RA	brain:	n/a
31	chr1:46267883-46267933	SKMC	muscle:	n/a
32	chr1:46267883-46267933	HUVEC	blood vessel:	n/a
33	chr1:46267883-46267933	GM06990	blood:	n/a
34	chr1:46267883-46267933	Hela-S3	cervix:	n/a
35	chr1:46267883-46267933	SK-N-SH	brain:	n/a
36	chr1:46267883-46267933	NHDF-neo	bronchial:	n/a
37	chr1:46267883-46267933	HRPEpiC	eye:	n/a
38	chr1:46267883-46267933	HEK293	kidney:	embryo
39	chr1:46267883-46267933	ProgFib	skin:	n/a
40	chr1:46267883-46267933	GM12892	blood:	n/a
41	chr1:46267883-46267933	AG09319	gingival:	n/a
42	chr1:46267883-46267933	SK-N-MC	brain:	n/a
43	chr1:46267883-46267933	HCT-116	colon:	n/a
44	chr1:46267883-46267933	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:46267883-46267933	Caco-2	colon:	n/a
46	chr1:46267883-46267933	CMK	blood:	n/a
47	chr1:46267883-46267933	A549	lung:	n/a
48	chr1:46267883-46267933	AG10803	skin:	n/a
49	chr1:46267883-46267933	ECC-1	luminal epithelium:	n/a
50	chr1:46267883-46267933	NB4	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46215876..46219394-chr1:46266629..46270801,6	K562	blood:
2	chr1:46049133..46051352-chr1:46267497..46269310,2	MCF-7	breast:
3	chr1:46151080..46154672-chr1:46265067..46271759,20	K562	blood:
4	chr1:46216117..46217904-chr1:46267595..46269245,2	MCF-7	breast:
5	chr1:46150526..46156032-chr1:46265067..46272923,24	K562	blood:
6	chr1:46265114..46268149-chr1:46268448..46270611,4	K562	blood:
7	chr1:46149604..46155141-chr1:46267151..46271003,9	MCF-7	breast:
8	chr1:46150825..46154977-chr1:46267620..46271634,6	MCF-7	breast:
9	chr1:46213556..46220443-chr1:46266629..46271737,8	K562	blood:

No data

Variant related genes	Relation type
MAST2	TF binding region
MAST2	CpG island
ENSG00000159596	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000086015	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000197429	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1053941	1.00[CHB][hapmap]
rs10736427	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749859	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749861	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10789476	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789477	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890356	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890357	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10890379	0.85[AMR][1000 genomes]
rs11211186	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211192	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11211193	0.87[EUR][1000 genomes]
rs11211206	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211211	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211214	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211220	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs11211247	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11580953	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582058	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap]
rs11584814	1.00[ASN][1000 genomes]
rs11585275	1.00[CHB][hapmap]
rs11587982	1.00[CHB][hapmap]
rs12045409	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047120	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17855317	1.00[ASN][1000 genomes]
rs28584711	1.00[CHB][hapmap]
rs3795318	1.00[ASN][1000 genomes]
rs4256763	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382655	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4420029	0.95[CEU][hapmap];0.95[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs4423055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4474301	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573476	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660315	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660330	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4660333	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4660887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4660901	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4660909	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55652826	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55765474	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140667	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278140	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56301932	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56316933	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56368769	1.00[ASN][1000 genomes]
rs59091734	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429590	1.00[ASN][1000 genomes]
rs6429592	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6429593	1.00[ASN][1000 genomes]
rs6659064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662307	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662572	1.00[CHB][hapmap]
rs6662999	1.00[CHB][hapmap]
rs6665193	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666501	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674105	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680333	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6680647	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689417	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6700322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702764	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690847	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690855	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690901	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692603	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692613	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72692632	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72692639	1.00[ASN][1000 genomes]
rs7413189	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7517418	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520280	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7530480	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532388	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7548617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552810	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7556472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884443	1.00[ASN][1000 genomes]
rs9429090	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv1010054	chr1:46144479-46320493	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
7	nsv1006861	chr1:46144479-46417621	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv1003049	chr1:46144479-46476149	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv871233	chr1:46153203-46311275	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv1008219	chr1:46160098-46493958	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv534943	chr1:46160098-46493958	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv1000498	chr1:46171836-46438252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv870791	chr1:46182916-46398415	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv871023	chr1:46184300-46301182	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv998925	chr1:46184925-46353041	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
16	nsv1003986	chr1:46184925-46417621	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv1007501	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv534944	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv1006891	chr1:46189258-46408032	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
20	nsv1009355	chr1:46189258-46463012	Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
21	nsv870626	chr1:46196813-46314170	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
22	nsv871312	chr1:46196813-46353332	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
23	esv2830426	chr1:46202361-46347367	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
24	nsv546158	chr1:46216575-46495434	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
25	nsv870911	chr1:46216575-46498375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
26	nsv1013628	chr1:46221617-46356565	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
27	nsv431268	chr1:46223080-46495480	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	nsv546159	chr1:46223086-46398415	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
29	nsv461417	chr1:46223086-46416348	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
30	nsv546160	chr1:46223086-46416348	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
31	nsv524147	chr1:46236098-46438076	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
32	nsv1007162	chr1:46244432-46417621	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
33	nsv1015136	chr1:46244432-46439533	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
34	nsv1003517	chr1:46244432-46609881	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
35	nsv1007759	chr1:46248667-46493959	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
36	nsv534945	chr1:46248667-46493959	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
37	nsv916232	chr1:46248686-46493918	Genic enhancers Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs7525281	CCDC163P	cis	Artery Aorta	GTEx
rs7525281	CCDC163P	cis	Adipose Subcutaneous	GTEx
rs7525281	CCDC163P	cis	Esophagus Mucosa	GTEx
rs7525281	CCDC163P	cis	Skin Sun Exposed Lower leg	GTEx
rs7525281	CCDC163P	cis	Thyroid	GTEx
rs7525281	CCDC163P	cis	Nerve Tibial	GTEx
rs7525281	CCDC163P	cis	Whole Blood	GTEx
rs7525281	ATPAF1	cis	cerebellum	SCAN
rs7525281	CCDC163P	cis	Muscle Skeletal	GTEx
rs7525281	CCDC163P	cis	Heart Left Ventricle	GTEx
rs7525281	CCDC163P	cis	Esophagus Muscularis	GTEx
rs7525281	CCDC163P	cis	lymphoblastoid	seeQTL
rs7525281	CCDC163P	cis	Stomach	GTEx
rs7525281	CCDC163P	cis	Artery Tibial	GTEx
rs7525281	CCDC163P	cis	lung	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46262200-46268000	Weak transcription	HepG2	liver
2	chr1:46262400-46268200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:46262800-46268000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:46263000-46268400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:46264000-46268600	Weak transcription	Thymus	Thymus
6	chr1:46265800-46268200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:46266400-46268000	Weak transcription	Left Ventricle	heart
8	chr1:46266800-46268000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:46267200-46268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:46267600-46268600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:46267600-46268600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:46267600-46268800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:46267800-46268000	Enhancers	A549	lung
14	chr1:46267800-46268000	Enhancers	HSMMtube	muscle
15	chr1:46267800-46268200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:46267800-46268200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:46267800-46268200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:46267800-46268200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:46267800-46268200	Enhancers	Hela-S3	cervix
20	chr1:46267800-46268200	Enhancers	NHLF	lung
21	chr1:46267800-46268200	Enhancers	Osteobl	bone
22	chr1:46267800-46268400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:46267800-46268400	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:46267800-46268400	Enhancers	Stomach Mucosa	stomach
25	chr1:46267800-46268400	Enhancers	K562	blood
26	chr1:46267800-46268400	Enhancers	NHDF-Ad	bronchial
27	chr1:46267800-46268600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:46267800-46268600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:46267800-46268600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:46267800-46268600	Enhancers	Fetal Muscle Leg	muscle
31	chr1:46267800-46268600	Enhancers	Placenta	Placenta
32	chr1:46267800-46268600	Enhancers	Fetal Stomach	stomach
33	chr1:46267800-46268600	Enhancers	Psoas Muscle	Psoas
34	chr1:46267800-46268600	Enhancers	HMEC	breast
35	chr1:46267800-46268600	Enhancers	HSMM	muscle
36	chr1:46267800-46268600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr1:46267800-46269000	Enhancers	Fetal Heart	heart

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