Variant report

Variant	rs8064372
Chromosome Location	chr17:37496871-37496872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37495025..37499725-chr17:37506231..37509469,4	K562	blood:
2	chr17:37496486..37499725-chr17:37507468..37510514,3	K562	blood:
3	chr17:37492064..37493936-chr17:37496192..37498090,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12937609	0.93[AFR][1000 genomes]
rs12939229	1.00[EUR][1000 genomes]
rs12940109	1.00[AMR][1000 genomes]
rs12940881	1.00[AMR][1000 genomes]
rs12940956	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942766	0.89[AFR][1000 genomes]
rs12943974	1.00[EUR][1000 genomes]
rs12944316	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12945363	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947238	1.00[AMR][1000 genomes]
rs12953178	1.00[AMR][1000 genomes]
rs16968698	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs34170152	1.00[EUR][1000 genomes]
rs34362498	0.85[AFR][1000 genomes]
rs34518049	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs34821956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34904106	1.00[AMR][1000 genomes]
rs34910003	1.00[AMR][1000 genomes]
rs34983824	1.00[AMR][1000 genomes]
rs35152961	1.00[EUR][1000 genomes]
rs35194764	1.00[AMR][1000 genomes]
rs35269184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35366897	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs35499078	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs35656573	1.00[AMR][1000 genomes]
rs35790121	1.00[EUR][1000 genomes]
rs35829705	1.00[ASW][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35846515	1.00[EUR][1000 genomes]
rs35853230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35896550	1.00[AMR][1000 genomes]
rs35953148	0.90[AFR][1000 genomes]
rs36106822	1.00[EUR][1000 genomes]
rs57938769	1.00[AMR][1000 genomes]
rs59775294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6503512	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369740	1.00[EUR][1000 genomes]
rs71369741	1.00[EUR][1000 genomes]
rs71369742	1.00[EUR][1000 genomes]
rs71369746	0.90[AFR][1000 genomes]
rs71369747	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369760	0.83[AMR][1000 genomes]
rs71369763	1.00[AMR][1000 genomes]
rs71369765	1.00[AMR][1000 genomes]
rs71369767	1.00[AMR][1000 genomes]
rs71577045	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212530	1.00[AMR][1000 genomes]
rs7212780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7218668	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7219611	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7222063	0.95[YRI][hapmap]
rs7226222	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8068102	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs8069194	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071061	1.00[EUR][1000 genomes]
rs8072801	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8073144	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074199	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8076843	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs8077259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077629	0.90[ASW][hapmap];0.91[YRI][hapmap]
rs8077822	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8079346	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8080830	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8081561	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9747574	1.00[AMR][1000 genomes]
rs9747666	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers 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	55 gene(s)	inside rSNPs	diseases
6	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
7	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	78 gene(s)	inside rSNPs	diseases
8	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
9	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv510709	chr17:37438419-37508395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr17:37453400-37507800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:37454000-37511600	Weak transcription	Hela-S3	cervix
4	chr17:37455200-37499800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:37456200-37499400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr17:37457600-37497800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:37460200-37497600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:37460400-37498400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:37461000-37497400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr17:37461000-37497600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr17:37461200-37515400	Weak transcription	Lung	lung
12	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
14	chr17:37472400-37497600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:37472800-37497600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr17:37472800-37499400	Weak transcription	Fetal Muscle Leg	muscle
17	chr17:37482400-37497800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:37483400-37499800	Weak transcription	Gastric	stomach
19	chr17:37484200-37500400	Weak transcription	Pancreas	Pancrea
20	chr17:37485200-37520800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:37485400-37497400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:37485600-37497600	Weak transcription	Fetal Lung	lung
23	chr17:37485600-37497800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr17:37487200-37499600	Weak transcription	NHDF-Ad	bronchial
25	chr17:37488000-37497400	Weak transcription	Brain Angular Gyrus	brain
26	chr17:37488800-37499800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr17:37488800-37515400	Weak transcription	Psoas Muscle	Psoas
28	chr17:37488800-37516800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr17:37489000-37522200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:37489400-37516800	Weak transcription	Aorta	Aorta
31	chr17:37489800-37497600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:37491600-37500600	Weak transcription	Fetal Kidney	kidney
33	chr17:37491600-37520600	Weak transcription	Colon Smooth Muscle	Colon
34	chr17:37491800-37497800	Weak transcription	Ovary	ovary
35	chr17:37492200-37497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:37492200-37497400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:37492200-37499800	Weak transcription	NH-A	brain
38	chr17:37492200-37514200	Weak transcription	Brain Hippocampus Middle	brain
39	chr17:37492400-37497600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr17:37492400-37497600	Weak transcription	Fetal Brain Female	brain
41	chr17:37492400-37497800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr17:37492400-37508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:37492400-37514600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:37492400-37516400	Weak transcription	Brain Anterior Caudate	brain
45	chr17:37492400-37522400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:37492600-37505000	Weak transcription	HepG2	liver
47	chr17:37492800-37502800	Weak transcription	Fetal Heart	heart
48	chr17:37492800-37507000	Weak transcription	A549	lung
49	chr17:37493200-37497400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr17:37493200-37506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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