Variant report

Variant	rs28465054
Chromosome Location	chr4:187111665-187111666
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:187110925-187113711	GM12892	blood:	n/a	n/a
2	ZMIZ1	chr4:187111640-187111784	K562	blood:	n/a	n/a
3	POLR2A	chr4:187110960-187113665	GM18505	blood:	n/a	n/a
4	POLR2A	chr4:187111621-187113729	K562	blood:	n/a	n/a
5	POLR2A	chr4:187111639-187113653	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:187109996-187113986	K562	blood:	n/a	n/a
7	ATF2	chr4:187111626-187112084	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:187110663-187113693	GM18526	blood:	n/a	n/a
9	POLR2A	chr4:187111621-187113767	PBDE	blood:	n/a	n/a
10	MAX	chr4:187111604-187113370	HepG2	liver:	n/a	chr4:187112789-187112798
11	POLR2A	chr4:187110538-187113831	GM19099	blood:	n/a	n/a
12	MYC	chr4:187111603-187113240	NB4	blood:	n/a	chr4:187112789-187112798
13	MAX	chr4:187111607-187113424	ECC-1	luminal epithelium:	n/a	chr4:187112789-187112798
14	BACH1	chr4:187111645-187113416	H1-hESC	embryonic stem cell:	n/a	n/a
15	ESRRA	chr4:187111373-187113351	GM12878	blood:	n/a	chr4:187112594-187112604
16	POLR2A	chr4:187110460-187113789	Raji	blood:	n/a	n/a
17	POLR2A	chr4:187111662-187113761	K562	blood:	n/a	n/a
18	POLR2A	chr4:187111185-187113301	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:187110947-187113649	GM15510	blood:	n/a	n/a
20	MAX	chr4:187111663-187113732	NB4	blood:	n/a	chr4:187112789-187112798
21	PML	chr4:187111643-187113246	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:187111549-187111856	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr4:187110863-187113768	GM12878	blood:	n/a	n/a
24	TBP	chr4:187111632-187112811	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr4:187111630-187113411	GM12878	blood:	n/a	n/a
26	CTCF	chr4:187111660-187111810	GM12873	blood:	n/a	n/a
27	POLR2A	chr4:187111637-187113586	K562	blood:	n/a	n/a
28	POLR2A	chr4:187111545-187113660	HepG2	liver:	n/a	n/a
29	CTCF	chr4:187111660-187111810	HAc	cerebellar:	n/a	n/a
30	RELA	chr4:187111585-187113664	GM15510	blood:	n/a	n/a
31	CUX1	chr4:187111625-187111704	K562	blood:	n/a	n/a
32	MAX	chr4:187111632-187113604	K562	blood:	n/a	chr4:187112789-187112798
33	MYC	chr4:187111608-187111734	K562	blood:	n/a	n/a
34	POLR2A	chr4:187111662-187113747	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:187110466-187113832	GM12891	blood:	n/a	n/a
36	POLR2A	chr4:187110936-187113645	GM18951	blood:	n/a	n/a
37	CTCF	chr4:187111539-187112180	K562	blood:	n/a	chr4:187112076-187112089 chr4:187111805-187111818 chr4:187111805-187111813 chr4:187112014-187112027
38	POLR2A	chr4:187111148-187114364	IMR90	lung:	n/a	n/a
39	RCOR1	chr4:187111576-187113198	K562	blood:	n/a	n/a
40	MAX	chr4:187111610-187113564	GM12878	blood:	n/a	chr4:187112789-187112798
41	MXI1	chr4:187111654-187113645	IMR90	lung:	n/a	n/a
42	POLR2A	chr4:187111631-187113673	K562	blood:	n/a	n/a
43	POLR2A	chr4:187111578-187112084	HCT-116	colon:	n/a	n/a
44	IRF1	chr4:187111574-187111812	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:187111478..187116148-chr4:187117012..187120938,6	MCF-7	breast:
2	chr4:187109253..187118277-chr4:187122555..187126883,14	K562	blood:
3	chr4:187062784..187065890-chr4:187111242..187113420,3	MCF-7	breast:
4	chr4:187092198..187094078-chr4:187111646..187113279,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SORBS2-4	chr4:187110186-187112644	NONHSAT099644

Variant related genes	Relation type
CYP4V2	TF binding region
ENSG00000109794	Chromatin interaction
ENSG00000145476	Chromatin interaction
ENSG00000251008	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10017419	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024936	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10024944	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027488	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055138	0.85[ASN][1000 genomes]
rs11725687	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11931515	0.81[EUR][1000 genomes]
rs13104952	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13132623	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13135693	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13135744	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398007	0.87[ASN][1000 genomes]
rs1877319	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036912	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2036913	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28545770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35168015	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35575344	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4241814	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4301157	0.87[ASN][1000 genomes]
rs4453976	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586997	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645255	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4861705	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4862655	0.83[ASN][1000 genomes]
rs4862656	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4862657	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4862659	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4862660	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4862661	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871461	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814453	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6816903	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816942	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818108	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818109	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822335	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7376464	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666666	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7666985	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667932	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668705	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7689798	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689823	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691348	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696233	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9991610	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9991842	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991999	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv931977	chr4:186912987-187364756	Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv880835	chr4:186929226-187122319	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv461860	chr4:186929226-187131504	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv596389	chr4:186929226-187131504	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1026585	chr4:186929542-187130319	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv537426	chr4:186929542-187130319	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv880572	chr4:186929646-187122319	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv881037	chr4:186929646-187127817	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv461861	chr4:186929646-187129995	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv596390	chr4:186929646-187129995	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv880709	chr4:186929646-187131384	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv880451	chr4:186929646-187148071	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv880596	chr4:186931910-187127817	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv880996	chr4:186931910-187131384	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
19	nsv461863	chr4:186931910-187131504	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv470097	chr4:186931910-187131504	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
21	nsv596391	chr4:186931910-187131504	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
22	nsv1027118	chr4:186935586-187133222	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
23	nsv537427	chr4:186935586-187133222	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
24	nsv1027514	chr4:186935786-187133083	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
25	nsv537428	chr4:186935786-187133083	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
26	nsv1015725	chr4:186936404-187130319	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
27	nsv537429	chr4:186936404-187130319	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
28	nsv881454	chr4:186944884-187131384	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
29	nsv869299	chr4:186958290-187192748	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
30	nsv880981	chr4:186961015-187148071	Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
31	nsv880485	chr4:186978366-187148071	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
32	nsv1033203	chr4:186990348-187333476	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
33	nsv537431	chr4:186990348-187333476	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
34	nsv880744	chr4:187004074-187127817	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
35	nsv881579	chr4:187004074-187148071	Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
36	nsv461864	chr4:187006806-187257004	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
37	nsv596392	chr4:187006806-187257004	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
38	nsv830172	chr4:187012765-187168424	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
39	nsv880408	chr4:187021315-187148071	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
40	nsv508340	chr4:187059173-187136958	Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
41	nsv461865	chr4:187072383-187366649	Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
42	nsv596401	chr4:187072383-187366649	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
43	nsv1023019	chr4:187082701-187153933	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS 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	12 gene(s)	inside rSNPs	diseases
44	nsv1022059	chr4:187082701-187183953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
45	nsv1015923	chr4:187084714-187139572	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
46	nsv537433	chr4:187084714-187139572	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
47	nsv4642	chr4:187085182-187136414	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs28465054	FAM149A	cis	Muscle Skeletal	GTEx
rs28465054	FAM149A	cis	Esophagus Muscularis	GTEx
rs28465054	KLKB1	cis	Thyroid	GTEx
rs28465054	CYP4V2	Cis_1M	lymphoblastoid	RTeQTL
rs28465054	FAM149A	cis	Stomach	GTEx
rs28465054	CYP4V2	cis	Muscle Skeletal	GTEx
rs28465054	DKFZP564J102	Cis_1M	lymphoblastoid	RTeQTL
rs28465054	F11	cis	Muscle Skeletal	GTEx
rs28465054	KLKB1	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187110400-187111800	Flanking Active TSS	Dnd41	blood
2	chr4:187110600-187111800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:187110800-187111800	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr4:187110800-187111800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:187110800-187112000	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr4:187110800-187112000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr4:187110800-187112400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr4:187111000-187111800	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr4:187111000-187111800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr4:187111000-187111800	Flanking Active TSS	Fetal Heart	heart
11	chr4:187111000-187112000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr4:187111000-187112000	Flanking Active TSS	Liver	Liver
13	chr4:187111000-187112000	Flanking Active TSS	Fetal Thymus	thymus
14	chr4:187111000-187112000	Flanking Active TSS	GM12878-XiMat	blood
15	chr4:187111000-187112400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:187111200-187111800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr4:187111200-187111800	Weak transcription	Gastric	stomach
18	chr4:187111200-187111800	Weak transcription	Pancreas	Pancrea
19	chr4:187111200-187111800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr4:187111200-187111800	Flanking Active TSS	K562	blood
21	chr4:187111200-187112000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr4:187111200-187112200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr4:187111200-187112800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:187111200-187113200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:187111200-187113800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr4:187111400-187111800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:187111400-187111800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr4:187111400-187111800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr4:187111400-187111800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr4:187111400-187111800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr4:187111400-187111800	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr4:187111400-187111800	Flanking Active TSS	NHDF-Ad	bronchial
33	chr4:187111400-187112000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:187111400-187112000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:187111400-187112000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:187111400-187112000	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr4:187111400-187112000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr4:187111400-187112000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr4:187111400-187112200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr4:187111400-187112200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr4:187111400-187112200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr4:187111400-187112200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:187111400-187112400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:187111400-187113800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:187111400-187114000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr4:187111400-187114000	Active TSS	Fetal Intestine Large	intestine
47	chr4:187111400-187114000	Active TSS	Right Ventricle	heart
48	chr4:187111400-187114200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr4:187111400-187114200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr4:187111400-187114200	Active TSS	Pancreatic Islets	Pancreatic Islet

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