Variant report

Variant	rs34741733
Chromosome Location	chr5:60139548-60139549
allele	C/T
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	MXI1	chr5:60139413-60140458	HepG2	liver:	n/a	n/a
2	CHD1	chr5:60139431-60139559	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr5:60138947-60140770	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr5:60139139-60139881	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr5:60139197-60140767	SK-N-SH	brain:	n/a	n/a
6	HDAC2	chr5:60139029-60140277	MCF-7	breast:	n/a	chr5:60139427-60139441 chr5:60140047-60140056
7	CTCF	chr5:60139500-60139650	HepG2	liver:	n/a	n/a
8	CTCF	chr5:60139540-60139690	SAEC	small airway:	n/a	n/a
9	ZNF263	chr5:60138742-60140637	HEK293-T-REx	kidney:	n/a	chr5:60139323-60139332 chr5:60140107-60140116
10	ZNF384	chr5:60139153-60139595	K562	blood:	n/a	n/a
11	ZNF263	chr5:60139250-60140300	K562	blood:	n/a	chr5:60139323-60139332 chr5:60140107-60140116
12	POLR2A	chr5:60139451-60140500	MCF-7	breast:	n/a	n/a
13	PAX5	chr5:60139497-60139801	GM12892	blood:	n/a	chr5:60139579-60139598
14	CREB1	chr5:60139512-60140682	HepG2	liver:	n/a	n/a
15	ELF1	chr5:60139231-60140204	GM12878	blood:	n/a	chr5:60140067-60140079
16	UBTF	chr5:60139542-60140327	K562	blood:	n/a	n/a
17	TCF12	chr5:60139458-60140419	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr5:60139005-60140746	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:60139476-60140557	H1-neurons	neurons:	n/a	n/a
20	CTCF	chr5:60139281-60140728	SK-N-SH	brain:	n/a	chr5:60139320-60139333 chr5:60139334-60139347
21	HMGN3	chr5:60139458-60140357	K562	blood:	n/a	n/a
22	CTCF	chr5:60139536-60139606	K562	blood:	n/a	n/a
23	MYC	chr5:60139496-60139664	MCF-7	breast:	n/a	n/a
24	MAZ	chr5:60139285-60140837	K562	blood:	n/a	chr5:60140433-60140442
25	MAZ	chr5:60139541-60140262	GM12878	blood:	n/a	n/a
26	HA-E2F1	chr5:60139508-60140434	Hela-S3	cervix:	n/a	chr5:60140017-60140029 chr5:60139806-60139816
27	POLR2A	chr5:60139439-60139695	H1-hESC	embryonic stem cell:	n/a	n/a
28	HA-E2F1	chr5:60138564-60140652	MCF-7	breast:	n/a	chr5:60140017-60140029 chr5:60139806-60139816 chr5:60139412-60139429
29	UBTF	chr5:60139012-60140635	K562	blood:	n/a	n/a
30	RAD21	chr5:60138931-60139650	H1-hESC	embryonic stem cell:	n/a	chr5:60139333-60139347
31	NR2F2	chr5:60139195-60140505	MCF-7	breast:	n/a	chr5:60140347-60140362
32	CCNT2	chr5:60139486-60140436	K562	blood:	n/a	n/a
33	MAX	chr5:60139437-60140565	HepG2	liver:	n/a	chr5:60140433-60140442
34	TAF1	chr5:60139543-60140583	ECC-1	luminal epithelium:	n/a	n/a
35	ZBTB7A	chr5:60139409-60139754	K562	blood:	n/a	chr5:60139638-60139649 chr5:60139462-60139476
36	CTCF	chr5:60139440-60139590	GM12866	blood:	n/a	n/a
37	SMARCB1	chr5:60139476-60140711	Hela-S3	cervix:	n/a	n/a
38	ZEB1	chr5:60138949-60140510	HepG2	liver:	n/a	chr5:60139696-60139709 chr5:60139059-60139070 chr5:60139700-60139707
39	RCOR1	chr5:60139094-60140595	K562	blood:	n/a	n/a
40	SIN3A	chr5:60138286-60140739	H1-hESC	embryonic stem cell:	n/a	chr5:60139627-60139638 chr5:60139330-60139341 chr5:60139591-60139604
41	MAZ	chr5:60139537-60140539	HepG2	liver:	n/a	chr5:60140433-60140442
42	ZBTB7A	chr5:60139361-60140530	ECC-1	luminal epithelium:	n/a	chr5:60139638-60139649 chr5:60139821-60139829 chr5:60139462-60139476
43	RAD21	chr5:60139286-60140740	H1-hESC	embryonic stem cell:	n/a	chr5:60139333-60139347
44	ZBTB7A	chr5:60139364-60140662	ECC-1	luminal epithelium:	n/a	chr5:60139638-60139649 chr5:60139821-60139829 chr5:60139462-60139476

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:60139516-60139566	HRCEpiC	kidney:	n/a
2	chr5:60139516-60139566	HIPEpiC	eye:	n/a
3	chr5:60139516-60139566	HRE	kidney:	n/a
4	chr5:60139516-60139566	PANC-1	pancreas:	n/a
5	chr5:60139516-60139566	NH-A	brain:	n/a
6	chr5:60139516-60139566	AG09319	gingival:	n/a
7	chr5:60139516-60139566	SK-N-MC	brain:	n/a
8	chr5:60139516-60139566	PFSK-1	brain:	n/a
9	chr5:60139516-60139566	GM06990	blood:	n/a
10	chr5:60139516-60139566	NHBE	bronchial:	n/a
11	chr5:60139516-60139566	MCF10A-Er-Src	breast:	n/a
12	chr5:60139516-60139566	ovcar-3	ovarian:	n/a
13	chr5:60139516-60139566	AG04450	lung:	fetal
14	chr5:60139516-60139566	ECC-1	luminal epithelium:	n/a
15	chr5:60139516-60139566	GM12892	blood:	n/a
16	chr5:60139516-60139566	GM19239	blood:	n/a
17	chr5:60139516-60139566	HL-60	blood:	n/a
18	chr5:60139516-60139566	HMEC	breast:	n/a
19	chr5:60139516-60139566	AG10803	skin:	n/a
20	chr5:60139516-60139566	MCF-7	breast:	n/a
21	chr5:60139516-60139566	NHDF-neo	bronchial:	n/a
22	chr5:60139516-60139566	HCPEpiC	choroid plexus:	n/a
23	chr5:60139516-60139566	Hepatocyte	liver:	n/a
24	chr5:60139516-60139566	HAEpiC	amniotic membrane:	n/a
25	chr5:60139516-60139566	HCT-116	colon:	n/a
26	chr5:60139516-60139566	HEEpiC	esophagus:	n/a
27	chr5:60139516-60139566	HepG2	liver:	n/a
28	chr5:60139516-60139566	A549	lung:	n/a
29	chr5:60139516-60139566	CMK	blood:	n/a
30	chr5:60139516-60139566	Hela-S3	cervix:	n/a
31	chr5:60139516-60139566	PrEC	prostate:	n/a
32	chr5:60139516-60139566	U87	brain:	n/a
33	chr5:60139516-60139566	BE2_C	brain:	n/a
34	chr5:60139516-60139566	HNPCEpiC	eye:	n/a
35	chr5:60139516-60139566	HCF	heart:	n/a
36	chr5:60139516-60139566	SAEC	small airway:	n/a
37	chr5:60139516-60139566	RPTEC	kidney:	n/a
38	chr5:60139516-60139566	Jurkat	blood:	n/a
39	chr5:60139516-60139566	HRPEpiC	eye:	n/a
40	chr5:60139516-60139566	HCM	heart:	n/a
41	chr5:60139516-60139566	H1-hESC	embryonic stem cell:	embryo
42	chr5:60139516-60139566	IMR90	lung:	fetal
43	chr5:60139516-60139566	AG09309	skin:	n/a
44	chr5:60139516-60139566	K562	blood:	n/a
45	chr5:60139516-60139566	SKMC	muscle:	n/a
46	chr5:60139516-60139566	HEK293	kidney:	embryo
47	chr5:60139516-60139566	Caco-2	colon:	n/a
48	chr5:60139516-60139566	HUVEC	blood vessel:	n/a
49	chr5:60139516-60139566	NB4	blood:	n/a
50	chr5:60139516-60139566	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60138467..60140103-chr5:60240605..60242461,2	MCF-7	breast:

Variant related genes	Relation type
ELOVL7	TF binding region
ELOVL7	CpG island
ENSG00000049167	Chromatin interaction
ENSG00000164182	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1021005	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10805374	0.86[ASN][1000 genomes]
rs10939879	0.86[ASN][1000 genomes]
rs11739952	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11740632	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12516995	0.86[ASN][1000 genomes]
rs12517310	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12652830	0.86[ASN][1000 genomes]
rs12652878	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654306	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12655603	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1382917	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1471488	0.86[ASN][1000 genomes]
rs1479645	0.86[ASN][1000 genomes]
rs17332824	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17392014	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17419290	0.87[ASN][1000 genomes]
rs1807017	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2120956	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2120957	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28436304	0.85[ASN][1000 genomes]
rs2898309	0.86[ASN][1000 genomes]
rs3797559	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4642318	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4647052	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4647132	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4647137	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4647150	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4700397	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700399	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4700402	0.86[ASN][1000 genomes]
rs4700404	0.85[ASN][1000 genomes]
rs55738840	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55814394	0.86[ASN][1000 genomes]
rs56031340	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58078456	0.93[ASN][1000 genomes]
rs58646987	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60858663	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61017995	0.86[ASN][1000 genomes]
rs61101592	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62365455	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62365458	0.86[ASN][1000 genomes]
rs62367862	0.86[ASN][1000 genomes]
rs62367872	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62367879	0.86[ASN][1000 genomes]
rs62367885	0.85[ASN][1000 genomes]
rs62367903	0.87[ASN][1000 genomes]
rs62372102	0.89[ASN][1000 genomes]
rs62372103	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62372133	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62372134	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6449512	0.80[EUR][1000 genomes]
rs67490467	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67555188	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67858932	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6884966	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726824	0.85[ASN][1000 genomes]
rs72757187	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72759206	0.85[ASN][1000 genomes]
rs7701398	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7709522	0.84[ASN][1000 genomes]
rs7722373	0.87[ASN][1000 genomes]
rs7723349	0.85[ASN][1000 genomes]
rs7723901	0.86[ASN][1000 genomes]
rs868791	0.86[ASN][1000 genomes]
rs9687099	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976630	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs976631	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2763456	chr5:60007355-60151767	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1026190	chr5:60020156-60148535	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv537769	chr5:60020156-60148535	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv598306	chr5:60129361-60266875	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv598307	chr5:60129361-60308836	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv462200	chr5:60135985-60266875	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv598309	chr5:60135985-60266875	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv598310	chr5:60135985-60308836	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv598311	chr5:60136626-60308836	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34741733	ERCC8	Cis_1M	lymphoblastoid	RTeQTL
rs34741733	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60137400-60140600	Active TSS	Brain Hippocampus Middle	brain
2	chr5:60138000-60139600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr5:60138000-60140800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr5:60138200-60140400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:60138200-60140800	Active TSS	Brain Substantia Nigra	brain
6	chr5:60138400-60139600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr5:60138400-60139800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr5:60138400-60140400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
9	chr5:60138400-60140800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:60138400-60140800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:60138400-60140800	Active TSS	Right Atrium	heart
12	chr5:60138400-60141200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:60138600-60139600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr5:60138600-60139800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:60138600-60140400	Bivalent/Poised TSS	Small Intestine	intestine
16	chr5:60138600-60140600	Active TSS	Pancreas	Pancrea
17	chr5:60138600-60141000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:60138800-60139600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:60138800-60139600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:60138800-60139600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:60138800-60139600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:60138800-60139600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr5:60138800-60139600	Flanking Bivalent TSS/Enh	Placenta	Placenta
24	chr5:60138800-60139600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr5:60138800-60139600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr5:60138800-60139600	Enhancers	Spleen	Spleen
27	chr5:60138800-60139800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:60138800-60139800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr5:60138800-60140000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:60138800-60140400	Bivalent/Poised TSS	HepG2	liver
31	chr5:60138800-60140600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr5:60138800-60141000	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr5:60139000-60139600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:60139000-60139600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:60139000-60139600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr5:60139000-60139600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:60139000-60139600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr5:60139000-60139600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr5:60139000-60139800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:60139000-60139800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:60139000-60139800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:60139000-60139800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
43	chr5:60139000-60139800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:60139000-60139800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:60139000-60139800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr5:60139000-60139800	Flanking Bivalent TSS/Enh	NH-A	brain
47	chr5:60139000-60140000	Bivalent/Poised TSS	Thymus	Thymus
48	chr5:60139000-60140000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
49	chr5:60139000-60140400	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr5:60139000-60140400	Active TSS	Rectal Mucosa Donor 31	rectum

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