Variant report

Variant	rs8075244
Chromosome Location	chr17:15872560-15872561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:15872430-15872630	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15869541..15871982-chr17:15871991..15874515,2	K562	blood:

Variant related genes	Relation type
ADORA2B	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11868890	1.00[ASN][1000 genomes]
rs11868910	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12603744	1.00[ASN][1000 genomes]
rs2302416	1.00[ASN][1000 genomes]
rs7211668	1.00[ASN][1000 genomes]
rs7211756	1.00[ASN][1000 genomes]
rs7217602	0.88[ASN][1000 genomes]
rs7225284	1.00[ASN][1000 genomes]
rs8071733	1.00[ASN][1000 genomes]
rs8072652	1.00[ASN][1000 genomes]
rs8075049	1.00[ASN][1000 genomes]
rs8076538	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
10	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15867400-15878000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:15868800-15880000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr17:15869000-15875800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:15870200-15872600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:15870200-15879600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:15870200-15880200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr17:15870200-15883600	Weak transcription	Fetal Heart	heart
8	chr17:15870400-15874000	Weak transcription	HSMMtube	muscle
9	chr17:15870400-15874200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:15870400-15874200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr17:15870400-15877600	Weak transcription	Fetal Brain Female	brain
12	chr17:15870400-15877600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr17:15870400-15877800	Weak transcription	Adipose Nuclei	Adipose
14	chr17:15870400-15877800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:15870400-15877800	Weak transcription	Left Ventricle	heart
16	chr17:15870400-15878000	Weak transcription	Fetal Lung	lung
17	chr17:15870400-15878000	Weak transcription	Fetal Stomach	stomach
18	chr17:15870400-15878000	Weak transcription	A549	lung
19	chr17:15870400-15878200	Weak transcription	Osteobl	bone
20	chr17:15870400-15879600	Weak transcription	Brain Anterior Caudate	brain
21	chr17:15870400-15880000	Weak transcription	Brain Germinal Matrix	brain
22	chr17:15870400-15881200	Weak transcription	Fetal Kidney	kidney
23	chr17:15870400-15883600	Weak transcription	Brain Angular Gyrus	brain
24	chr17:15870400-15883800	Weak transcription	Gastric	stomach
25	chr17:15870400-15902400	Weak transcription	Small Intestine	intestine
26	chr17:15870600-15875200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:15870600-15876800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:15870600-15877600	Weak transcription	HSMM	muscle
29	chr17:15870600-15877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:15870600-15877800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr17:15870600-15878000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr17:15870600-15878200	Weak transcription	NHLF	lung
33	chr17:15870600-15878400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr17:15870600-15880000	Weak transcription	Brain Substantia Nigra	brain
35	chr17:15870600-15880000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr17:15870600-15883600	Weak transcription	Pancreas	Pancrea
37	chr17:15870600-15883800	Weak transcription	Fetal Brain Male	brain
38	chr17:15870800-15873000	Weak transcription	Placenta	Placenta
39	chr17:15870800-15877600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:15870800-15878000	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:15870800-15878200	Weak transcription	Fetal Intestine Large	intestine
42	chr17:15870800-15880000	Weak transcription	Primary B cells from cord blood	blood
43	chr17:15870800-15902400	Weak transcription	Esophagus	oesophagus
44	chr17:15871000-15873800	Strong transcription	NHEK	skin
45	chr17:15871000-15878000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:15871000-15878000	Weak transcription	Fetal Intestine Small	intestine
47	chr17:15871000-15878400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr17:15871000-15878800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:15871000-15879800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr17:15871200-15873000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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