Variant report

Variant	rs12994595
Chromosome Location	chr2:152633498-152633499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152631080..152635535-chr2:152637436..152642211,5	K562	blood:
2	chr2:152624704..152626770-chr2:152632738..152634256,2	K562	blood:
3	chr2:152630565..152634239-chr2:152680606..152685047,4	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10169098	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10172958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173335	1.00[JPT][hapmap]
rs10173570	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174624	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10179630	1.00[ASN][1000 genomes]
rs10186879	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10190733	1.00[ASN][1000 genomes]
rs10192459	1.00[JPT][hapmap]
rs10198509	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202662	1.00[CEU][hapmap]
rs10204195	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10210114	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497093	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11692567	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11885813	1.00[JPT][hapmap]
rs12328396	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12693088	1.00[JPT][hapmap]
rs12693126	0.81[ASN][1000 genomes]
rs12992632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025954	1.00[CEU][hapmap]
rs13384856	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13386934	1.00[ASN][1000 genomes]
rs13395294	1.00[ASN][1000 genomes]
rs13396041	1.00[ASN][1000 genomes]
rs13402710	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13408513	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13414130	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13416266	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13421183	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13427102	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13428623	1.00[ASN][1000 genomes]
rs16830358	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2030589	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2030590	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34629725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36111287	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36141926	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3768656	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4436952	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4503987	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4525690	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62174407	0.96[ASN][1000 genomes]
rs62174408	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62174411	1.00[ASN][1000 genomes]
rs6433628	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729878	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6750638	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754783	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7560854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565109	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7591340	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7591363	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152614600-152638000	Weak transcription	Pancreas	Pancrea
2	chr2:152616800-152644400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:152617000-152638000	Weak transcription	Esophagus	oesophagus
5	chr2:152617000-152669400	Weak transcription	Gastric	stomach
6	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:152619800-152635800	Weak transcription	Fetal Brain Female	brain
8	chr2:152622200-152661800	Weak transcription	Fetal Kidney	kidney
9	chr2:152622600-152633800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:152623000-152680000	Weak transcription	Spleen	Spleen
11	chr2:152623200-152638000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:152623400-152635800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:152623400-152658800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:152623400-152659000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:152623600-152633800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:152623600-152659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:152623800-152633600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:152623800-152635800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:152623800-152642000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:152624000-152662600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:152624200-152641400	Weak transcription	Brain Angular Gyrus	brain
22	chr2:152624200-152643000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:152624400-152635800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:152624400-152656800	Weak transcription	HepG2	liver
25	chr2:152625400-152660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:152626800-152633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:152626800-152643600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:152626800-152647000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:152627000-152638000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:152627200-152641800	Weak transcription	Brain Germinal Matrix	brain
31	chr2:152628000-152654800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:152628200-152641200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:152628800-152635600	Weak transcription	Adipose Nuclei	Adipose
34	chr2:152629000-152661800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:152629200-152633800	Weak transcription	Aorta	Aorta
36	chr2:152629200-152638000	Weak transcription	Fetal Lung	lung
37	chr2:152629200-152641600	Weak transcription	Psoas Muscle	Psoas
38	chr2:152630000-152641200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:152631200-152634000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:152631200-152636000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:152631200-152637000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:152631400-152633800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:152631400-152634400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:152631400-152637600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:152631400-152652000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:152631400-152667200	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:152631600-152634000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:152631600-152636400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:152631600-152661800	Weak transcription	HMEC	breast
50	chr2:152631800-152634000	Strong transcription	Lung	lung

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