Variant report

Variant	rs7838465
Chromosome Location	chr8:120812060-120812061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120802211..120803960-chr8:120811769..120814577,2	MCF-7	breast:
2	chr8:120799253..120800987-chr8:120810493..120812679,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088205	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10088741	0.94[EUR][1000 genomes]
rs10108101	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11775062	0.92[ASN][1000 genomes]
rs11785572	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11985347	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11996390	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998531	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12156318	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355174	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16893214	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17818097	1.00[ASN][1000 genomes]
rs17818440	1.00[ASN][1000 genomes]
rs17818446	1.00[ASN][1000 genomes]
rs17818842	0.85[ASN][1000 genomes]
rs2063283	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2063284	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28394804	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28490296	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28551477	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56180159	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281801	0.93[EUR][1000 genomes]
rs56366115	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60145621	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60917006	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61438417	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62526598	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526601	1.00[ASN][1000 genomes]
rs62526606	1.00[ASN][1000 genomes]
rs62526620	0.85[ASN][1000 genomes]
rs6469845	0.94[EUR][1000 genomes]
rs6988621	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6989803	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6994085	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6995594	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6999808	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7002501	0.94[EUR][1000 genomes]
rs7003687	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72690112	0.85[ASN][1000 genomes]
rs7815389	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7827811	0.94[EUR][1000 genomes]
rs7828086	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7831639	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7831973	0.94[EUR][1000 genomes]
rs7836830	0.94[EUR][1000 genomes]
rs9297606	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs953614	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs953615	0.94[EUR][1000 genomes]
rs9650078	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:120781000-120813800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:120781200-120812800	Weak transcription	Colonic Mucosa	Colon
6	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120781400-120812800	Weak transcription	Right Ventricle	heart
8	chr8:120781400-120813800	Weak transcription	Aorta	Aorta
9	chr8:120781600-120812800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:120785200-120812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
13	chr8:120792400-120812600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:120793400-120814200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:120795800-120812800	Weak transcription	HSMMtube	muscle
16	chr8:120797200-120812800	Weak transcription	Brain Germinal Matrix	brain
17	chr8:120800200-120821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:120800400-120812800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:120801600-120812800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:120801800-120830400	Weak transcription	NHEK	skin
21	chr8:120802600-120818200	Weak transcription	Small Intestine	intestine
22	chr8:120802800-120812800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:120803200-120812800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:120803200-120812800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:120803200-120812800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:120803400-120813600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:120804600-120812600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:120804800-120824200	Weak transcription	Stomach Mucosa	stomach
29	chr8:120805200-120812600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:120805200-120812800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:120805200-120812800	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:120805200-120812800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:120805200-120813000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:120805200-120813000	Weak transcription	Thymus	Thymus
35	chr8:120805200-120813600	Weak transcription	Ovary	ovary
36	chr8:120805200-120813800	Weak transcription	Lung	lung
37	chr8:120805200-120813800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:120805200-120813800	Weak transcription	Spleen	Spleen
39	chr8:120805200-120814600	Weak transcription	HepG2	liver
40	chr8:120805200-120841400	Weak transcription	Gastric	stomach
41	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
42	chr8:120805400-120812800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:120805400-120812800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:120805400-120812800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:120806000-120812800	Weak transcription	HMEC	breast
46	chr8:120806600-120814800	Weak transcription	Pancreas	Pancrea
47	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
48	chr8:120806800-120812600	Weak transcription	Left Ventricle	heart
49	chr8:120806800-120812800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:120806800-120812800	Weak transcription	Fetal Intestine Small	intestine

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