Variant report

Variant	rs17582998
Chromosome Location	chr12:117372380-117372381
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117371490..117373713-chr12:117436920..117439603,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10850749	0.96[ASN][1000 genomes]
rs11068233	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11068265	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068267	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068268	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068275	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11068278	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068279	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068285	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068288	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068304	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068305	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227740	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228058	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230860	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297748	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12313807	0.96[ASN][1000 genomes]
rs12313968	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12318749	0.96[ASN][1000 genomes]
rs17583110	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454853	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57066310	0.96[ASN][1000 genomes]
rs57212223	0.96[ASN][1000 genomes]
rs58547422	0.96[ASN][1000 genomes]
rs59143111	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60601556	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72487544	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980519	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
2	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
3	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
4	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:117363400-117373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:117363400-117375200	Weak transcription	HMEC	breast
7	chr12:117363400-117381000	Weak transcription	NHEK	skin
8	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
10	chr12:117363600-117375000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:117363800-117374000	Weak transcription	Thymus	Thymus
12	chr12:117364200-117372600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:117364800-117372800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:117364800-117374000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:117365800-117381200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:117366000-117375600	Strong transcription	Primary T cells from cord blood	blood
21	chr12:117366200-117377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:117366600-117373000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:117366600-117373400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:117366600-117374000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:117366600-117374000	Weak transcription	NHDF-Ad	bronchial
26	chr12:117366600-117381000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:117366600-117381200	Weak transcription	Liver	Liver
28	chr12:117366600-117381400	Weak transcription	Aorta	Aorta
29	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:117366600-117388400	Weak transcription	K562	blood
31	chr12:117367000-117373600	Weak transcription	Fetal Intestine Small	intestine
32	chr12:117367000-117373800	Weak transcription	Gastric	stomach
33	chr12:117367000-117374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:117367000-117380000	Weak transcription	Fetal Thymus	thymus
35	chr12:117367200-117372600	Weak transcription	Left Ventricle	heart
36	chr12:117367200-117373800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:117367200-117373800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:117367200-117373800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:117367200-117374000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:117367200-117374000	Weak transcription	Lung	lung
41	chr12:117367200-117374000	Weak transcription	NHLF	lung
42	chr12:117367200-117379200	Weak transcription	Spleen	Spleen
43	chr12:117367800-117372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:117367800-117382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:117368000-117372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:117368000-117372600	Weak transcription	Dnd41	blood
47	chr12:117368000-117374000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:117368000-117379800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:117368000-117381200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:117368000-117383200	Weak transcription	Hela-S3	cervix

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