Variant report

Variant	rs9288675
Chromosome Location	chr2:233605585-233605586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233602602..233605955-chr2:233608656..233612608,7	K562	blood:
2	chr2:233604218..233605797-chr2:233609127..233612089,2	K562	blood:
3	chr2:233598909..233602066-chr2:233602251..233606134,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10176930	0.84[ASN][1000 genomes]
rs10190211	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10207739	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10209575	0.95[EUR][1000 genomes]
rs10933407	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10933408	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11679581	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11684636	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11685169	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11687379	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11688622	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11688691	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11689661	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11694000	0.81[TSI][hapmap]
rs11694434	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695762	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11904619	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12052869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12328140	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12694915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694916	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12988087	0.84[ASN][1000 genomes]
rs13035517	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs13383733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs13386650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13387762	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs13390935	0.86[CHB][hapmap]
rs13396293	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13401578	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13408229	0.81[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13412034	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13412513	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13424896	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs13425525	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13425918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs13429857	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1446307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289914	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2289915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292724	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs2292725	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs2293782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2305139	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28491817	0.80[EUR][1000 genomes]
rs34063802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34832091	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35778045	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35785837	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35928329	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41266951	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56054779	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62193305	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6437073	0.86[TSI][hapmap]
rs6747479	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6751801	0.86[TSI][hapmap]
rs73005582	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7557131	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564554	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9288676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9808146	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9973586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:233565000-233612200	Weak transcription	Fetal Brain Male	brain
3	chr2:233565200-233606400	Weak transcription	Stomach Mucosa	stomach
4	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:233566800-233612800	Weak transcription	Small Intestine	intestine
6	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
7	chr2:233569400-233612800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:233571200-233627400	Weak transcription	Gastric	stomach
10	chr2:233571600-233612200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:233580000-233606000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
14	chr2:233586400-233612200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
16	chr2:233587200-233613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:233589000-233605800	Strong transcription	Liver	Liver
18	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
20	chr2:233594800-233611800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:233594800-233612400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:233595000-233615600	Weak transcription	Spleen	Spleen
23	chr2:233595200-233612400	Weak transcription	Brain Anterior Caudate	brain
24	chr2:233595400-233612200	Weak transcription	Right Ventricle	heart
25	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:233599000-233606800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:233599200-233605600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:233599400-233605800	Weak transcription	A549	lung
29	chr2:233599600-233612200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:233599600-233612400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:233599600-233613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:233600000-233612200	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:233600000-233612400	Weak transcription	Brain Germinal Matrix	brain
34	chr2:233600000-233613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:233600200-233612200	Weak transcription	NH-A	brain
36	chr2:233600600-233613400	Weak transcription	Brain Angular Gyrus	brain
37	chr2:233602000-233612400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:233602000-233612400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:233602000-233612400	Weak transcription	HMEC	breast
40	chr2:233602200-233608200	Weak transcription	HSMM	muscle
41	chr2:233602200-233611800	Weak transcription	NHDF-Ad	bronchial
42	chr2:233602200-233612200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:233602200-233612200	Weak transcription	Left Ventricle	heart
44	chr2:233602200-233612400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:233602200-233612400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:233602200-233612400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:233602200-233613800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:233602400-233606000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:233602400-233606200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:233602400-233612000	Weak transcription	NHLF	lung

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