Variant report

Variant	rs8069194
Chromosome Location	chr17:37520465-37520466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37520195..37522165-chr17:37528962..37530687,2	K562	blood:
2	chr17:37507661..37509338-chr17:37520135..37522515,3	K562	blood:
3	chr17:37519060..37522693-chr17:37557724..37561471,3	K562	blood:

Variant related genes	Relation type
ENSG00000266469	Chromatin interaction
ENSG00000108306	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:68)

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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942766	0.92[AFR][1000 genomes]
rs12943974	1.00[EUR][1000 genomes]
rs12944316	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12945363	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947238	0.81[AFR][1000 genomes];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	0.87[AFR][1000 genomes]
rs34518049	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs34819548	0.81[AFR][1000 genomes]
rs34821956	1.00[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]
rs34968503	0.81[AFR][1000 genomes]
rs34983824	1.00[AMR][1000 genomes]
rs35152961	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35194764	1.00[AMR][1000 genomes]
rs35269184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35366897	1.00[ASW][hapmap];0.96[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];0.96[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35846515	1.00[EUR][1000 genomes]
rs35853230	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35896550	1.00[AMR][1000 genomes]
rs35953148	0.95[AFR][1000 genomes]
rs36106822	1.00[EUR][1000 genomes]
rs57938769	1.00[AMR][1000 genomes]
rs59775294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6503512	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369740	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71369741	1.00[EUR][1000 genomes]
rs71369742	1.00[EUR][1000 genomes]
rs71369746	0.95[AFR][1000 genomes]
rs71369747	0.99[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	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212530	1.00[AMR][1000 genomes]
rs7212780	0.88[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]
rs8064372	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]
rs8068102	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs8071061	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8072801	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8073144	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8074199	1.00[YRI][hapmap];0.93[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];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8077259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8077629	0.90[ASW][hapmap];0.91[YRI][hapmap]
rs8077822	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8079346	0.99[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	0.96[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:13 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
3	chr17:37485200-37520800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr17:37489000-37522200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr17:37491600-37520600	Weak transcription	Colon Smooth Muscle	Colon
6	chr17:37492400-37522400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:37496400-37534000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:37496600-37520800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:37496800-37522000	Weak transcription	Fetal Stomach	stomach
10	chr17:37498200-37534200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:37498400-37522800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:37498600-37521000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:37498600-37525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr17:37498600-37529600	Weak transcription	Primary T cells from cord blood	blood
15	chr17:37498600-37532600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr17:37498600-37541200	Weak transcription	Fetal Thymus	thymus
17	chr17:37498600-37543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:37498600-37544000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr17:37498800-37556400	Weak transcription	Thymus	Thymus
20	chr17:37499200-37544000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr17:37509000-37543000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr17:37509600-37522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:37509600-37522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:37511000-37520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:37512200-37522600	Weak transcription	Gastric	stomach
26	chr17:37514800-37556200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr17:37515000-37525800	Weak transcription	Fetal Intestine Small	intestine
28	chr17:37515400-37520800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:37515400-37555600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr17:37515600-37543200	Weak transcription	Fetal Intestine Large	intestine
31	chr17:37517200-37520600	Weak transcription	Aorta	Aorta
32	chr17:37517200-37520600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:37517200-37520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:37517400-37526000	Weak transcription	Spleen	Spleen
35	chr17:37517600-37520800	Weak transcription	Left Ventricle	heart
36	chr17:37517600-37521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:37517600-37521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr17:37517600-37521600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:37517600-37521600	Weak transcription	Brain Substantia Nigra	brain
40	chr17:37517600-37521600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:37517600-37521800	Weak transcription	Fetal Lung	lung
42	chr17:37517600-37522000	Weak transcription	Brain Angular Gyrus	brain
43	chr17:37517600-37522000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:37517600-37522400	Weak transcription	Right Ventricle	heart
45	chr17:37517600-37535600	Weak transcription	Psoas Muscle	Psoas
46	chr17:37517600-37536400	Weak transcription	Brain Anterior Caudate	brain
47	chr17:37517600-37555200	Weak transcription	Brain Germinal Matrix	brain
48	chr17:37517600-37556600	Weak transcription	Fetal Muscle Leg	muscle
49	chr17:37517800-37522000	Weak transcription	Brain Hippocampus Middle	brain
50	chr17:37518000-37554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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