Variant report

Variant	rs6442101
Chromosome Location	chr3:48130893-48130894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:430)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48130153-48131058	HepG2	liver:	n/a	n/a
2	TEAD4	chr3:48130426-48131040	K562	blood:	n/a	n/a
3	YY1	chr3:48130490-48131093	SK-N-SH	brain:	n/a	chr3:48130818-48130837 chr3:48130798-48130812
4	ARID3A	chr3:48130666-48131094	K562	blood:	n/a	n/a
5	POLR2A	chr3:48130067-48130997	GM12878	blood:	n/a	n/a
6	RXRA	chr3:48130840-48130960	GM12878	blood:	n/a	n/a
7	CHD2	chr3:48130235-48131010	H1-hESC	embryonic stem cell:	n/a	chr3:48130797-48130807 chr3:48130374-48130384
8	TCF12	chr3:48130302-48131208	ECC-1	luminal epithelium:	n/a	n/a
9	TAF1	chr3:48129539-48131077	K562	blood:	n/a	n/a
10	RFX5	chr3:48130379-48130967	K562	blood:	n/a	n/a
11	MYC	chr3:48130446-48130946	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:48130093-48131112	GM12891	blood:	n/a	n/a
13	POLR2A	chr3:48130089-48131128	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr3:48130717-48131033	SK-N-SH_RA	brain:	n/a	chr3:48130750-48130764 chr3:48130751-48130765
15	ZNF143	chr3:48130261-48130956	GM12878	blood:	n/a	n/a
16	ETS1	chr3:48130451-48130945	A549	lung:	n/a	n/a
17	MYC	chr3:48130484-48131038	K562	blood:	n/a	n/a
18	ELK1	chr3:48130586-48130971	K562	blood:	n/a	n/a
19	REST	chr3:48130286-48131054	HepG2	liver:	n/a	chr3:48130295-48130308
20	POLR2A	chr3:48130041-48131135	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr3:48130153-48131102	K562	blood:	n/a	n/a
22	POLR2A	chr3:48130178-48131089	K562	blood:	n/a	n/a
23	POLR2A	chr3:48129399-48131124	K562	blood:	n/a	n/a
24	POLR2A	chr3:48130459-48131014	GM12891	blood:	n/a	n/a
25	E2F6	chr3:48130096-48130989	K562	blood:	n/a	chr3:48130853-48130864 chr3:48130262-48130272
26	TCF12	chr3:48130312-48131077	A549	lung:	n/a	n/a
27	TAF1	chr3:48130103-48131015	MCF-7	breast:	n/a	n/a
28	POLR2A	chr3:48130421-48130953	A549	lung:	n/a	n/a
29	MYC	chr3:48130158-48131110	NB4	blood:	n/a	n/a
30	POLR2A	chr3:48130170-48131189	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:48128782-48131544	HepG2	liver:	n/a	n/a
32	CEBPB	chr3:48130490-48131006	MCF-7	breast:	n/a	n/a
33	TAF1	chr3:48130117-48131056	PFSK-1	brain:	n/a	n/a
34	TAF7	chr3:48130090-48131063	H1-hESC	embryonic stem cell:	n/a	n/a
35	RCOR1	chr3:48130194-48130941	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:48128789-48131239	SK-N-MC	brain:	n/a	n/a
37	ZNF143	chr3:48130272-48130993	K562	blood:	n/a	n/a
38	EP300	chr3:48130140-48132020	K562	blood:	n/a	chr3:48130158-48130167 chr3:48130265-48130274 chr3:48130754-48130770
39	SIN3AK20	chr3:48129998-48131149	HCT-116	colon:	n/a	n/a
40	ZKSCAN1	chr3:48130424-48130971	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr3:48130173-48131070	GM10847	blood:	n/a	n/a
42	CREB1	chr3:48130250-48130996	ECC-1	luminal epithelium:	n/a	n/a
43	MYC	chr3:48130099-48131434	K562	blood:	n/a	n/a
44	TAF1	chr3:48130663-48130957	PFSK-1	brain:	n/a	n/a
45	MAX	chr3:48130080-48131159	MCF-7	breast:	n/a	chr3:48130084-48130094 chr3:48130096-48130106
46	CEBPB	chr3:48130472-48130992	ECC-1	luminal epithelium:	n/a	n/a
47	RCOR1	chr3:48130230-48131044	Hela-S3	cervix:	n/a	n/a
48	HA-E2F1	chr3:48130275-48130991	MCF-7	breast:	n/a	n/a
49	TAF1	chr3:48130496-48131059	MCF-7	breast:	n/a	n/a
50	RCOR1	chr3:48130156-48131012	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48130857-48130907	IMR90	lung:	fetal
2	chr3:48130857-48130907	GM12878	blood:	n/a
3	chr3:48130857-48130907	HAEpiC	amniotic membrane:	n/a
4	chr3:48130857-48130907	LNCaP	prostate:	n/a
5	chr3:48130857-48130907	GM19239	blood:	n/a
6	chr3:48130857-48130907	ECC-1	luminal epithelium:	n/a
7	chr3:48130857-48130907	CMK	blood:	n/a
8	chr3:48130857-48130907	MCF-7	breast:	n/a
9	chr3:48130857-48130907	GM06990	blood:	n/a
10	chr3:48130857-48130907	HEK293	kidney:	embryo
11	chr3:48130857-48130907	AG09319	gingival:	n/a
12	chr3:48130857-48130907	HCPEpiC	choroid plexus:	n/a
13	chr3:48130857-48130907	NHBE	bronchial:	n/a
14	chr3:48130857-48130907	HepG2	liver:	n/a
15	chr3:48130857-48130907	HL-60	blood:	n/a
16	chr3:48130857-48130907	HEEpiC	esophagus:	n/a
17	chr3:48130857-48130907	Jurkat	blood:	n/a
18	chr3:48130857-48130907	HCT-116	colon:	n/a
19	chr3:48130857-48130907	SK-N-SH_RA	brain:	n/a
20	chr3:48130857-48130907	MCF10A-Er-Src	breast:	n/a
21	chr3:48130857-48130907	GM12892	blood:	n/a
22	chr3:48130857-48130907	Hela-S3	cervix:	n/a
23	chr3:48130857-48130907	AG10803	skin:	n/a
24	chr3:48130857-48130907	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:48130857-48130907	HIPEpiC	eye:	n/a
26	chr3:48130857-48130907	RPTEC	kidney:	n/a
27	chr3:48130857-48130907	BJ	skin:	n/a
28	chr3:48130857-48130907	PFSK-1	brain:	n/a
29	chr3:48130857-48130907	HMEC	breast:	n/a
30	chr3:48130857-48130907	NH-A	brain:	n/a
31	chr3:48130857-48130907	HRE	kidney:	n/a
32	chr3:48130857-48130907	SK-N-SH	brain:	n/a
33	chr3:48130857-48130907	NHDF-neo	bronchial:	n/a
34	chr3:48130857-48130907	BE2_C	brain:	n/a
35	chr3:48130857-48130907	AoSMC	blood vessel:	n/a
36	chr3:48130857-48130907	NB4	blood:	n/a
37	chr3:48130857-48130907	A549	lung:	n/a
38	chr3:48130857-48130907	Caco-2	colon:	n/a
39	chr3:48130857-48130907	AG09309	skin:	n/a
40	chr3:48130857-48130907	HCF	heart:	n/a
41	chr3:48130857-48130907	HRCEpiC	kidney:	n/a
42	chr3:48130857-48130907	NT2-D1	testis:	n/a
43	chr3:48130857-48130907	PrEC	prostate:	n/a
44	chr3:48130857-48130907	ProgFib	skin:	n/a
45	chr3:48130857-48130907	K562	blood:	n/a
46	chr3:48130857-48130907	AG04449	skin:	fetal
47	chr3:48130857-48130907	HCM	heart:	n/a
48	chr3:48130857-48130907	HRPEpiC	eye:	n/a
49	chr3:48130857-48130907	HUVEC	blood vessel:	n/a
50	chr3:48130857-48130907	HNPCEpiC	eye:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48130893..48133841-chr3:48154652..48156153,2	K562	blood:
2	chr14:105200530..105201030-chr3:48130853..48131356,2	NB4	blood:
3	chr3:48129047..48133145-chr3:48133622..48137667,6	K562	blood:
4	chr3:48130350..48131236-chr9:124132115..124132795,2	Hela-S3	cervix:
5	chr3:48055864..48058624-chr3:48128858..48131357,3	MCF-7	breast:
6	chr17:62222926..62223904-chr3:48130254..48131094,3	HCT-116	colon:
7	chr3:48129047..48133145-chr3:48133826..48138274,6	K562	blood:
8	chr3:48129161..48131606-chr3:48228200..48230674,2	MCF-7	breast:
9	chr3:48128127..48130983-chr3:48215070..48217329,2	K562	blood:
10	chr3:47864865..47866925-chr3:48129196..48131775,2	MCF-7	breast:
11	chr3:48130188..48131002-chr4:39640204..39640929,2	Hela-S3	cervix:
12	chr3:47843334..47845793-chr3:48129706..48132338,2	K562	blood:
13	chr3:47843827..47845903-chr3:48128782..48130968,2	MCF-7	breast:
14	chr3:47843334..47845793-chr3:48129178..48132338,3	K562	blood:
15	chr20:34541874..34542855-chr3:48130575..48131112,2	Hela-S3	cervix:
16	chr3:48054963..48058951-chr3:48128022..48131548,4	MCF-7	breast:

No data

Variant related genes	Relation type
MAP4	TF binding region
MAP4	CpG island
ENSG00000255458	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000265078	Chromatin interaction
ENSG00000163683	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000164045	Chromatin interaction
ENSG00000132153	Chromatin interaction
ENSG00000148175	Chromatin interaction
ENSG00000047849	Chromatin interaction
ENSG00000171222	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1013431	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10446426	0.86[EUR][1000 genomes]
rs1060407	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs11130152	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs11130154	0.93[EUR][1000 genomes]
rs11130155	0.83[CEU][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130161	0.92[YRI][hapmap]
rs1137524	0.83[EUR][1000 genomes]
rs11707679	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs11710866	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11711129	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11714518	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11720151	0.96[CEU][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11924107	0.85[EUR][1000 genomes]
rs12486714	0.96[CEU][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12493348	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13074973	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes]
rs13075457	0.91[EUR][1000 genomes]
rs13075795	0.92[EUR][1000 genomes]
rs13080997	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13081463	0.87[EUR][1000 genomes]
rs13085054	0.96[CEU][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs13089844	0.86[EUR][1000 genomes]
rs13093830	0.83[EUR][1000 genomes]
rs1530646	0.93[EUR][1000 genomes]
rs1550914	0.93[EUR][1000 genomes]
rs184388	0.83[EUR][1000 genomes]
rs2034963	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2053767	0.93[EUR][1000 genomes]
rs2121754	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes]
rs2166770	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2166772	0.93[EUR][1000 genomes]
rs2361683	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2361684	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2631721	0.81[EUR][1000 genomes]
rs28637561	0.93[EUR][1000 genomes]
rs2882668	0.83[EUR][1000 genomes]
rs319682	0.80[EUR][1000 genomes]
rs319684	0.83[EUR][1000 genomes]
rs319685	0.83[EUR][1000 genomes]
rs319686	0.83[EUR][1000 genomes]
rs319689	0.82[EUR][1000 genomes]
rs319690	0.82[EUR][1000 genomes]
rs319692	0.81[EUR][1000 genomes]
rs319696	0.96[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs34025851	0.83[EUR][1000 genomes]
rs34597784	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34750113	0.84[EUR][1000 genomes]
rs35199727	0.83[EUR][1000 genomes]
rs35314534	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35689209	0.97[EUR][1000 genomes]
rs3731532	0.91[YRI][hapmap]
rs3731539	0.92[YRI][hapmap]
rs3731547	0.92[YRI][hapmap]
rs3732529	0.83[EUR][1000 genomes]
rs4293721	0.93[EUR][1000 genomes]
rs4296617	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4392441	0.95[EUR][1000 genomes]
rs4599334	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4858810	0.96[CEU][hapmap]
rs4858871	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs4858876	0.91[EUR][1000 genomes]
rs4858880	0.96[EUR][1000 genomes]
rs4858881	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs4858882	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4858887	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5012971	0.95[EUR][1000 genomes]
rs56067795	0.85[EUR][1000 genomes]
rs60446735	0.83[EUR][1000 genomes]
rs62260830	0.83[EUR][1000 genomes]
rs6442090	0.93[EUR][1000 genomes]
rs6442091	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442094	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6442096	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6442099	0.82[EUR][1000 genomes]
rs6442102	0.96[CEU][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6442109	0.87[ASW][hapmap]
rs6766641	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6766754	0.82[JPT][hapmap]
rs6768318	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6770467	0.93[EUR][1000 genomes]
rs6770477	0.93[EUR][1000 genomes]
rs6772396	0.83[EUR][1000 genomes]
rs6773208	0.92[EUR][1000 genomes]
rs6777081	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6783629	0.82[EUR][1000 genomes]
rs6791834	0.98[EUR][1000 genomes]
rs6793477	0.82[EUR][1000 genomes]
rs6797587	0.81[MEX][hapmap]
rs6803741	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6804520	0.85[EUR][1000 genomes]
rs6806820	0.92[EUR][1000 genomes]
rs7374376	0.82[JPT][hapmap]
rs7374482	0.96[CEU][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes]
rs7374516	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7426976	0.96[CEU][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7427418	0.92[CEU][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs7427648	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7430879	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7430913	1.00[CEU][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes]
rs7431567	0.84[AMR][1000 genomes]
rs7618163	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7619882	0.85[EUR][1000 genomes]
rs7620736	0.98[EUR][1000 genomes]
rs7627645	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7642590	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7649981	0.93[EUR][1000 genomes]
rs7651237	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7653368	0.83[EUR][1000 genomes]
rs777015	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs777017	0.83[EUR][1000 genomes]
rs796566	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs810334	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs936428	0.96[CEU][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs9811277	0.93[EUR][1000 genomes]
rs9812875	0.85[EUR][1000 genomes]
rs9814961	0.93[EUR][1000 genomes]
rs9825114	0.87[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9828959	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9842649	0.83[EUR][1000 genomes]
rs9846062	0.93[EUR][1000 genomes]
rs9854454	0.93[EUR][1000 genomes]
rs9860485	0.92[EUR][1000 genomes]
rs9862913	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS 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 miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs6442101	HYAL2	cis	cerebellum	SCAN
rs6442101	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs6442101	ZNF589	cis	parietal	SCAN
rs6442101	CDC25A	cis	Thyroid	GTEx
rs6442101	MRPS18AP1	cis	lung	GTEx
rs6442101	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs6442101	ZNF589	cis	cerebellum	SCAN
rs6442101	SMARCC1	cis	cerebellum	SCAN
rs6442101	MRPS18AP1	cis	Nerve Tibial	GTEx
rs6442101	NME6	cis	Esophagus Muscularis	GTEx
rs6442101	ZNF589	cis	Artery Tibial	GTEx
rs6442101	ZNF589	cis	Nerve Tibial	GTEx
rs6442101	CDC25A	cis	cerebellum	SCAN
rs6442101	ZNF589	cis	Whole Blood	GTEx
rs6442101	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs6442101	MRPS18AP1	cis	Artery Tibial	GTEx
rs6442101	MRPS18AP1	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48127800-48131200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:48128200-48131200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:48128200-48131600	Active TSS	A549	lung
4	chr3:48128400-48131200	Active TSS	Aorta	Aorta
5	chr3:48128400-48131200	Active TSS	Right Ventricle	heart
6	chr3:48128600-48131200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:48128600-48131200	Active TSS	Psoas Muscle	Psoas
8	chr3:48128800-48131000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:48128800-48131000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:48128800-48131000	Active TSS	Lung	lung
11	chr3:48128800-48131000	Active TSS	Ovary	ovary
12	chr3:48128800-48131000	Active TSS	Rectal Smooth Muscle	rectum
13	chr3:48128800-48131200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr3:48128800-48131200	Active TSS	Colonic Mucosa	Colon
15	chr3:48128800-48131200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr3:48128800-48131200	Active TSS	HSMMtube	muscle
17	chr3:48128800-48131400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr3:48128800-48131400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:48128800-48131400	Active TSS	HSMM	muscle
20	chr3:48128800-48131400	Active TSS	NHDF-Ad	bronchial
21	chr3:48128800-48131600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:48128800-48131600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:48128800-48131600	Active TSS	Stomach Smooth Muscle	stomach
24	chr3:48129000-48131000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:48129000-48131000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:48129000-48131000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:48129000-48131000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr3:48129000-48131000	Active TSS	Colon Smooth Muscle	Colon
29	chr3:48129000-48131000	Active TSS	Fetal Heart	heart
30	chr3:48129000-48131000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr3:48129000-48131000	Active TSS	Small Intestine	intestine
32	chr3:48129000-48131000	Active TSS	GM12878-XiMat	blood
33	chr3:48129000-48131000	Active TSS	Hela-S3	cervix
34	chr3:48129000-48131200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr3:48129000-48131200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:48129000-48131200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:48129000-48131200	Active TSS	Brain Angular Gyrus	brain
38	chr3:48129000-48131200	Active TSS	Brain Cingulate Gyrus	brain
39	chr3:48129000-48131200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr3:48129000-48131400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr3:48129000-48131400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr3:48129000-48131400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:48129000-48131400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:48129000-48131400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr3:48129000-48131400	Active TSS	Fetal Kidney	kidney
46	chr3:48129000-48131400	Active TSS	HMEC	breast
47	chr3:48129000-48131400	Active TSS	NHEK	skin
48	chr3:48129000-48131400	Active TSS	NHLF	lung
49	chr3:48129000-48131600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr3:48129000-48131600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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