Variant report

Variant	rs9643197
Chromosome Location	chr8:125469158-125469159
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125468769..125470638-chr8:125539917..125541546,2	K562	blood:
2	chr20:52521882..52524435-chr8:125467415..125469932,2	MCF-7	breast:
3	chr8:125468125..125470439-chr8:125784131..125785879,2	K562	blood:
4	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
5	chr8:125468962..125473498-chr8:125484885..125488924,6	K562	blood:

Variant related genes	Relation type
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10195	0.89[EUR][1000 genomes]
rs10956186	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13253319	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs16899643	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899663	0.88[YRI][hapmap]
rs17298171	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3812470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3812473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829033	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs3829037	0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap]
rs4330675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4527852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613980	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4621790	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57929284	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989097	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017148	0.94[ASN][1000 genomes]
rs71516748	0.91[ASN][1000 genomes]
rs72713019	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713023	0.85[EUR][1000 genomes]
rs72713032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713059	0.86[EUR][1000 genomes]
rs72713071	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713073	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713075	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713077	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713084	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713096	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714708	0.89[EUR][1000 genomes]
rs73704274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125463800-125483800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:125464000-125474600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:125464000-125484800	Weak transcription	Aorta	Aorta
4	chr8:125464000-125485000	Weak transcription	Fetal Kidney	kidney
5	chr8:125464400-125479600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:125464600-125469400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125464600-125470000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:125464600-125470600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:125464600-125473200	Weak transcription	Right Atrium	heart
10	chr8:125464600-125474200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:125464600-125474400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:125464600-125475600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:125464600-125477600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:125464600-125478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:125464600-125478600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:125464600-125483200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:125464600-125484600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:125464600-125485200	Weak transcription	Colonic Mucosa	Colon
19	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
20	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:125464800-125472000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:125464800-125475600	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:125464800-125478400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:125464800-125478600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:125464800-125484600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:125464800-125484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:125464800-125485400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:125465000-125474400	Weak transcription	Brain Germinal Matrix	brain
29	chr8:125465000-125475200	Weak transcription	Fetal Thymus	thymus
30	chr8:125465000-125475400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr8:125465000-125476600	Weak transcription	Osteobl	bone
32	chr8:125465000-125477600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:125465000-125477800	Weak transcription	NH-A	brain
34	chr8:125465000-125478600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:125465000-125479000	Weak transcription	HUVEC	blood vessel
36	chr8:125465000-125484400	Weak transcription	NHLF	lung
37	chr8:125465000-125485400	Weak transcription	Gastric	stomach
38	chr8:125465200-125471400	Weak transcription	Fetal Stomach	stomach
39	chr8:125465200-125472200	Weak transcription	Stomach Mucosa	stomach
40	chr8:125465200-125474600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr8:125465200-125477000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:125465200-125477600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:125465200-125477600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:125465200-125483000	Weak transcription	Fetal Brain Male	brain
45	chr8:125465200-125483200	Weak transcription	Fetal Lung	lung
46	chr8:125465400-125475600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:125465400-125478400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:125465600-125478600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:125465600-125482800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:125465600-125484200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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