Variant report

Variant	rs3812470
Chromosome Location	chr8:125507538-125507539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125477278..125479238-chr8:125506832..125508856,2	K562	blood:
2	chr8:125504505..125508229-chr8:125551294..125554363,3	MCF-7	breast:
3	chr8:125505181..125507555-chr8:125507868..125509849,2	K562	blood:
4	chr8:125507259..125508866-chr8:125511438..125514054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10195	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956186	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs16899643	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899663	0.88[YRI][hapmap]
rs17298171	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3812473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829033	0.90[CEU][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3829037	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs4330675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[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]
rs4613980	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4621790	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57929284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6989097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997089	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017148	0.88[ASN][1000 genomes]
rs71516748	0.97[ASN][1000 genomes]
rs72713019	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713023	0.85[EUR][1000 genomes]
rs72713032	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713042	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713045	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713053	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713055	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713059	0.86[EUR][1000 genomes]
rs72713071	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713077	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713084	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713096	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713098	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714708	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73704274	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643197	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]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125515800	Weak transcription	Lung	lung
2	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:125489000-125541200	Weak transcription	Gastric	stomach
6	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
7	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:125496000-125512600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:125496800-125513200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
12	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:125498200-125507600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:125498200-125508000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:125499000-125513200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
17	chr8:125499200-125515800	Weak transcription	Right Ventricle	heart
18	chr8:125499800-125512600	Weak transcription	Aorta	Aorta
19	chr8:125499800-125515800	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:125500000-125512600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:125500000-125526200	Weak transcription	Colonic Mucosa	Colon
22	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
24	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
25	chr8:125500200-125512600	Weak transcription	NHDF-Ad	bronchial
26	chr8:125500200-125530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:125500400-125512800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:125500400-125526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:125500600-125513800	Weak transcription	Fetal Kidney	kidney
30	chr8:125501600-125514800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:125501600-125514800	Weak transcription	GM12878-XiMat	blood
32	chr8:125501600-125516000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:125501600-125524600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:125501600-125535000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:125501800-125514800	Weak transcription	HUVEC	blood vessel
37	chr8:125502000-125513200	Weak transcription	Left Ventricle	heart
38	chr8:125502000-125515800	Weak transcription	HSMMtube	muscle
39	chr8:125502400-125512600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:125502400-125514800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:125502600-125514000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:125503800-125513200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:125503800-125513200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:125503800-125514800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:125503800-125514800	Weak transcription	Brain Anterior Caudate	brain
46	chr8:125503800-125515800	Weak transcription	Thymus	Thymus
47	chr8:125503800-125518800	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:125504000-125508400	Weak transcription	HSMM	muscle
49	chr8:125504000-125512400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:125504000-125512400	Weak transcription	Primary B cells from peripheral blood	blood

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