Variant report

Variant	rs8080830
Chromosome Location	chr17:37530474-37530475
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37529412..37533173-chr17:37556280..37559153,3	K562	blood:
2	chr17:37520195..37522165-chr17:37528962..37530687,2	K562	blood:
3	chr17:37527186..37529708-chr17:37529924..37532653,2	K562	blood:

Variant related genes	Relation type
ENSG00000266469	Chromatin interaction
ENSG00000108306	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12937609	0.87[AFR][1000 genomes]
rs12940109	1.00[AMR][1000 genomes]
rs12940881	1.00[AMR][1000 genomes]
rs12940956	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12942766	0.88[AFR][1000 genomes]
rs12944316	0.83[AFR][1000 genomes]
rs12945363	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12947238	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12953178	1.00[AMR][1000 genomes]
rs34362498	0.93[AFR][1000 genomes]
rs34821956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34904106	1.00[AMR][1000 genomes]
rs34910003	1.00[AMR][1000 genomes]
rs34983824	1.00[AMR][1000 genomes]
rs35194764	1.00[AMR][1000 genomes]
rs35269184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35366897	1.00[AMR][1000 genomes]
rs35499078	1.00[AMR][1000 genomes]
rs35656573	1.00[AMR][1000 genomes]
rs35829705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35853230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35896550	1.00[AMR][1000 genomes]
rs35953148	0.89[AFR][1000 genomes]
rs57938769	1.00[AMR][1000 genomes]
rs59775294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6503512	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369746	0.89[AFR][1000 genomes]
rs71369747	0.93[AFR][1000 genomes];0.83[AMR][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	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7212530	1.00[AMR][1000 genomes]
rs7212780	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7218668	1.00[AMR][1000 genomes]
rs7226222	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064372	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8068102	0.87[AFR][1000 genomes]
rs8069194	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8073144	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8074199	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8076843	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8077259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8077822	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8079346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8081561	0.90[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:14 , 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
14	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37496400-37534000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:37498200-37534200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:37498600-37532600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr17:37498600-37541200	Weak transcription	Fetal Thymus	thymus
5	chr17:37498600-37543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:37498600-37544000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr17:37498800-37556400	Weak transcription	Thymus	Thymus
8	chr17:37499200-37544000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr17:37509000-37543000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr17:37514800-37556200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:37515400-37555600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:37515600-37543200	Weak transcription	Fetal Intestine Large	intestine
13	chr17:37517600-37535600	Weak transcription	Psoas Muscle	Psoas
14	chr17:37517600-37536400	Weak transcription	Brain Anterior Caudate	brain
15	chr17:37517600-37555200	Weak transcription	Brain Germinal Matrix	brain
16	chr17:37517600-37556600	Weak transcription	Fetal Muscle Leg	muscle
17	chr17:37518000-37554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:37521000-37541400	Weak transcription	Right Atrium	heart
19	chr17:37521200-37532600	Weak transcription	Left Ventricle	heart
20	chr17:37521200-37541400	Weak transcription	Lung	lung
21	chr17:37521200-37544400	Weak transcription	Placenta	Placenta
22	chr17:37522400-37534400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr17:37522400-37535800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:37522600-37532800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:37522600-37546800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr17:37522600-37555400	Weak transcription	Fetal Lung	lung
27	chr17:37522600-37556200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:37522800-37532600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:37522800-37532800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr17:37522800-37535800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:37522800-37554800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:37522800-37555400	Weak transcription	Adipose Nuclei	Adipose
33	chr17:37522800-37556400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:37523000-37531400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:37523000-37532800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr17:37523000-37535800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr17:37523200-37532600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:37523200-37536400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr17:37523200-37546800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr17:37523400-37556200	Weak transcription	Ovary	ovary
41	chr17:37523600-37555800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:37524800-37532600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:37525600-37532400	Weak transcription	K562	blood
44	chr17:37526200-37533000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:37527400-37535600	Weak transcription	Fetal Intestine Small	intestine
46	chr17:37527400-37535600	Weak transcription	Fetal Stomach	stomach
47	chr17:37528400-37533000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:37529800-37536400	Weak transcription	Colon Smooth Muscle	Colon
49	chr17:37529800-37544000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:37530000-37532800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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