Variant report

Variant	rs3739337
Chromosome Location	chr8:67342077-67342078
allele	A/G
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	CTCF	chr8:67341980-67342130	K562	blood:	n/a	n/a
2	CTCF	chr8:67341966-67342120	NHEK	skin:	n/a	n/a
3	CTCF	chr8:67341980-67342130	AG09319	gingival:	n/a	n/a
4	CTCF	chr8:67342040-67342190	NHEK	skin:	n/a	n/a
5	POLR2A	chr8:67341048-67342604	PBDE	blood:	n/a	n/a
6	CTCF	chr8:67341960-67342110	HA-sp	spinal cord:	n/a	n/a
7	CTCF	chr8:67341960-67342110	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:67340632-67342244	HEK293	kidney:	n/a	n/a
9	CTCF	chr8:67342020-67342170	GM12864	blood:	n/a	n/a
10	POLR2A	chr8:67340955-67342153	MCF-7	breast:	n/a	n/a
11	MYC	chr8:67341994-67342133	K562	blood:	n/a	n/a
12	CTCF	chr8:67341932-67342134	Fibrobl	skin:	n/a	n/a
13	MAX	chr8:67340905-67342438	K562	blood:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
14	CHD2	chr8:67340596-67342103	Hela-S3	cervix:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
15	RCOR1	chr8:67340131-67343104	IMR90	lung:	n/a	n/a
16	RAD21	chr8:67342003-67342188	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:67341940-67342090	HMEC	breast:	n/a	n/a
18	CTCF	chr8:67342020-67342170	SAEC	small airway:	n/a	n/a
19	CTCF	chr8:67341912-67342179	GM19238	blood:	n/a	n/a
20	YY1	chr8:67341764-67342224	GM12892	blood:	n/a	n/a
21	CTCF	chr8:67341930-67342146	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:67342020-67342170	GM12867	blood:	n/a	n/a
23	SMC3	chr8:67341938-67342202	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr8:67342020-67342170	HRE	kidney:	n/a	n/a
25	POLR2A	chr8:67341981-67342506	IMR90	lung:	n/a	n/a
26	CTCF	chr8:67342002-67342095	Gliobla	brain:	n/a	n/a
27	CTCF	chr8:67341817-67342215	K562	blood:	n/a	n/a
28	CTCF	chr8:67341960-67342110	NHDF-neo	bronchial:	n/a	n/a
29	MAX	chr8:67340821-67342201	MCF-7	breast:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
30	BHLHE40	chr8:67340966-67342234	HepG2	liver:	n/a	chr8:67341000-67341016
31	TAF1	chr8:67341845-67342226	K562	blood:	n/a	n/a
32	ZNF263	chr8:67341113-67342684	HEK293-T-REx	kidney:	n/a	chr8:67342273-67342294 chr8:67342244-67342265
33	SIN3A	chr8:67340551-67343021	H1-hESC	embryonic stem cell:	n/a	chr8:67340971-67340984 chr8:67341010-67341023
34	CTCF	chr8:67341980-67342130	HRPEpiC	eye:	n/a	n/a
35	PML	chr8:67340775-67342296	GM12878	blood:	n/a	n/a
36	CTCF	chr8:67341960-67342110	HCPEpiC	choroid plexus:	n/a	n/a
37	POLR2A	chr8:67340347-67342470	SK-N-MC	brain:	n/a	n/a
38	CTCF	chr8:67341960-67342110	GM12865	blood:	n/a	n/a
39	ETS1	chr8:67341886-67342139	K562	blood:	n/a	n/a
40	POLR2A	chr8:67340948-67342472	Raji	blood:	n/a	n/a
41	CTCF	chr8:67341960-67342110	AG04449	skin:	n/a	n/a
42	POLR2A	chr8:67340662-67342188	GM18951	blood:	n/a	n/a
43	MAX	chr8:67340411-67342740	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
44	RCOR1	chr8:67342018-67342218	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr8:67341940-67342090	GM12872	blood:	n/a	n/a
46	POLR2A	chr8:67340452-67342272	K562	blood:	n/a	n/a
47	MAX	chr8:67340811-67342296	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
48	CTCF	chr8:67341904-67342146	GM12892	blood:	n/a	n/a
49	YY1	chr8:67341816-67342268	K562	blood:	n/a	n/a
50	CTCF	chr8:67341960-67342110	GM12869	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67341571..67344891-chr8:67522913..67526545,3	MCF-7	breast:
2	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
3	chr8:67088502..67091443-chr8:67341463..67343865,2	MCF-7	breast:
4	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:

Variant related genes	Relation type
ADHFE1	TF binding region
ENSG00000246145	TF binding region
ENSG00000253190	Chromatin interaction
ENSG00000147571	Chromatin interaction
ENSG00000147573	Chromatin interaction
ENSG00000185697	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10092482	0.82[ASN][1000 genomes]
rs10095148	0.89[ASN][1000 genomes]
rs10112574	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1030420	0.92[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs10957371	0.86[ASN][1000 genomes]
rs10957375	0.89[ASN][1000 genomes]
rs11775347	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11775711	0.86[ASN][1000 genomes]
rs11778701	0.86[ASN][1000 genomes]
rs11779375	0.84[ASN][1000 genomes]
rs11780639	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11986630	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11991674	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11998720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12335128	0.83[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs1582808	0.83[ASN][1000 genomes]
rs1978566	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2303519	0.83[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs2357892	0.86[ASN][1000 genomes]
rs2884318	0.86[ASN][1000 genomes]
rs35243406	0.87[AMR][1000 genomes]
rs35352031	0.89[MEX][hapmap]
rs3739334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62511167	0.89[AMR][1000 genomes]
rs62511183	0.87[AMR][1000 genomes]
rs7010700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7011134	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7014273	0.89[ASN][1000 genomes]
rs746149	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7817343	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818340	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs890514	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67340000-67345200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67340200-67342200	Active TSS	Primary T cells from cord blood	blood
3	chr8:67340200-67342200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:67340200-67342200	Active TSS	Left Ventricle	heart
5	chr8:67340200-67342800	Active TSS	Fetal Kidney	kidney
6	chr8:67340200-67342800	Active TSS	Thymus	Thymus
7	chr8:67340200-67343400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:67340200-67343400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:67340200-67343600	Active TSS	Hela-S3	cervix
10	chr8:67340200-67345000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:67340200-67345200	Active TSS	NHLF	lung
12	chr8:67340200-67345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:67340200-67345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:67340200-67345400	Active TSS	Fetal Intestine Large	intestine
15	chr8:67340200-67345400	Active TSS	Right Atrium	heart
16	chr8:67340200-67345600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr8:67340200-67345600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:67340400-67342400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:67340400-67342400	Active TSS	Aorta	Aorta
20	chr8:67340400-67342400	Active TSS	Fetal Lung	lung
21	chr8:67340400-67342600	Active TSS	Esophagus	oesophagus
22	chr8:67340400-67342600	Active TSS	Gastric	stomach
23	chr8:67340400-67342600	Active TSS	Lung	lung
24	chr8:67340400-67342600	Active TSS	Osteobl	bone
25	chr8:67340400-67342800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:67340400-67343000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr8:67340400-67343400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:67340400-67343400	Active TSS	Fetal Intestine Small	intestine
29	chr8:67340400-67343600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:67340400-67345000	Active TSS	HepG2	liver
33	chr8:67340400-67345000	Active TSS	HSMMtube	muscle
34	chr8:67340400-67345200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:67340400-67345200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:67340400-67345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:67340400-67345400	Active TSS	Ovary	ovary
38	chr8:67340400-67345400	Active TSS	Psoas Muscle	Psoas
39	chr8:67340400-67345400	Active TSS	Right Ventricle	heart
40	chr8:67340400-67345600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:67340600-67342200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr8:67340600-67342200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:67340600-67342200	Active TSS	Brain Substantia Nigra	brain
44	chr8:67340600-67342200	Active TSS	Colon Smooth Muscle	Colon
45	chr8:67340600-67342200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr8:67340600-67342200	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr8:67340600-67342400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:67340600-67342400	Active TSS	Fetal Heart	heart
49	chr8:67340600-67342800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr8:67340600-67342800	Active TSS	Stomach Mucosa	stomach

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