Variant report

Variant	rs12236754
Chromosome Location	chr9:95512201-95512202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95506780..95509638-chr9:95511921..95514054,2	K562	blood:
2	chr9:95431607..95434471-chr9:95510913..95512598,2	K562	blood:
3	chr9:95510041..95513567-chr9:95525566..95528932,4	K562	blood:
4	chr9:95504668..95516688-chr9:95523327..95528935,18	MCF-7	breast:
5	chr9:94894055..94896272-chr9:95510908..95513385,2	K562	blood:
6	chr9:95431607..95434580-chr9:95510913..95513196,3	K562	blood:

Variant related genes	Relation type
ENSG00000234537	Chromatin interaction
ENSG00000127080	Chromatin interaction
ENSG00000185963	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs1010823	0.85[ASN][1000 genomes]
rs1040977	0.80[EUR][1000 genomes]
rs10820998	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10821001	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10821002	0.82[ASN][1000 genomes]
rs10821003	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10821004	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10821005	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10821007	0.84[ASN][1000 genomes]
rs10821009	0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10821010	0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10821011	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821012	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10821014	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821015	0.85[ASN][1000 genomes]
rs10821016	0.85[ASN][1000 genomes]
rs10992367	0.81[CHB][hapmap]
rs10992380	0.81[CHB][hapmap];0.84[AMR][1000 genomes]
rs10992382	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs10992384	0.82[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes]
rs10992390	0.84[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10992392	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10992396	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10992404	0.85[ASN][1000 genomes]
rs10992406	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992407	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992408	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10992409	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10992412	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992413	0.83[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs10992414	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992416	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10992417	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10992418	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10992419	0.82[ASN][1000 genomes]
rs10992420	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10992422	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992423	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992426	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10992427	0.82[ASN][1000 genomes]
rs10992430	0.89[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs10992431	0.89[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs10992432	0.89[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs10992433	0.94[ASN][1000 genomes]
rs10992434	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs10992436	0.88[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992437	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992438	0.85[ASN][1000 genomes]
rs10992441	0.85[ASN][1000 genomes]
rs10992442	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992443	0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992444	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992445	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992447	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10992448	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];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992451	0.88[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992456	0.85[ASN][1000 genomes]
rs10992460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992462	0.85[ASN][1000 genomes]
rs10992469	0.82[JPT][hapmap]
rs10992474	0.87[EUR][1000 genomes]
rs10992476	0.88[EUR][1000 genomes]
rs1117670	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs1125063	0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs1125064	0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs11533010	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11535540	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12057034	0.88[EUR][1000 genomes]
rs12236013	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12236393	0.88[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12236516	0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs12236747	0.85[ASN][1000 genomes]
rs12236788	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12237216	0.83[ASN][1000 genomes]
rs12238691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12683944	0.85[ASN][1000 genomes]
rs12684076	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12684587	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12685080	0.83[JPT][hapmap]
rs12685256	0.82[ASN][1000 genomes]
rs12685257	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12685358	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12685780	0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12685791	0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs12686058	0.84[ASN][1000 genomes]
rs12686771	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12686780	0.82[AMR][1000 genomes]
rs12686781	0.83[AMR][1000 genomes]
rs1323523	0.84[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1326775	0.82[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes]
rs1407944	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1575460	0.84[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes]
rs16908555	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs16908560	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs17366488	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1853428	0.91[CEU][hapmap]
rs1853429	0.88[EUR][1000 genomes]
rs1853468	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes]
rs1974004	0.91[CEU][hapmap]
rs2038685	0.86[AMR][1000 genomes]
rs2146848	0.84[CEU][hapmap]
rs2148537	0.82[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes]
rs2181584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2181586	0.89[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2277164	0.89[ASN][1000 genomes]
rs2296080	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2398780	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs3203916	0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3739605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4141966	0.88[EUR][1000 genomes]
rs4545157	0.85[ASN][1000 genomes]
rs556	0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs56111209	0.85[ASN][1000 genomes]
rs56203846	0.82[ASN][1000 genomes]
rs56311406	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339669	0.84[ASN][1000 genomes]
rs57421019	0.85[ASN][1000 genomes]
rs57720404	0.85[ASN][1000 genomes]
rs57737182	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58952648	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60173654	0.85[ASN][1000 genomes]
rs60457563	0.85[ASN][1000 genomes]
rs60498616	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6479426	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs67601697	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs68022962	0.85[ASN][1000 genomes]
rs68046436	0.85[ASN][1000 genomes]
rs7031163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7037961	0.82[ASN][1000 genomes]
rs753802	0.88[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs753803	0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs753804	0.85[CEU][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754600	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7850075	0.91[CEU][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7850871	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7851947	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7853617	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7855203	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7856147	0.84[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7857105	0.82[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7857502	0.84[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7859967	0.84[EUR][1000 genomes]
rs7860628	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7862106	0.89[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7863741	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7863882	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs7864889	0.80[CHB][hapmap]
rs7869529	0.82[ASN][1000 genomes]
rs7869603	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7871537	0.86[JPT][hapmap]
rs7875050	0.90[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7875225	0.82[JPT][hapmap]
rs8181065	0.89[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs878610	0.85[ASN][1000 genomes]
rs912259	0.85[ASN][1000 genomes]
rs912261	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs912264	0.84[CEU][hapmap];0.87[AMR][1000 genomes]
rs971984	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes]
rs976320	0.85[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs976321	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95502400-95516400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:95503400-95518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:95503600-95514400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr9:95503600-95514400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr9:95503600-95517800	Weak transcription	Fetal Intestine Large	intestine
6	chr9:95503800-95523800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:95507200-95512400	Enhancers	Lung	lung
8	chr9:95507200-95512600	Enhancers	Left Ventricle	heart
9	chr9:95507200-95512600	Enhancers	Ovary	ovary
10	chr9:95507400-95512400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:95507400-95512400	Enhancers	Right Atrium	heart
12	chr9:95507400-95512600	Enhancers	Placenta	Placenta
13	chr9:95507400-95512600	Enhancers	Right Ventricle	heart
14	chr9:95507400-95512800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:95507400-95512800	Enhancers	Fetal Heart	heart
16	chr9:95507400-95513200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr9:95507400-95513800	Enhancers	Primary B cells from peripheral blood	blood
18	chr9:95507600-95512400	Enhancers	Fetal Muscle Trunk	muscle
19	chr9:95507600-95512600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr9:95508000-95517800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:95508200-95512400	Enhancers	NHLF	lung
22	chr9:95508200-95515000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr9:95508200-95517800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:95508200-95517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:95508400-95514400	Weak transcription	Primary T cells from cord blood	blood
26	chr9:95508400-95516400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr9:95508600-95512400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:95508600-95512800	Enhancers	HSMM	muscle
29	chr9:95508600-95513000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr9:95508800-95512400	Enhancers	Psoas Muscle	Psoas
31	chr9:95508800-95512400	Enhancers	NHDF-Ad	bronchial
32	chr9:95508800-95512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:95508800-95512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:95508800-95512800	Enhancers	Adipose Nuclei	Adipose
35	chr9:95508800-95512800	Enhancers	Osteobl	bone
36	chr9:95509000-95512400	Enhancers	Stomach Mucosa	stomach
37	chr9:95509000-95512600	Enhancers	Colonic Mucosa	Colon
38	chr9:95509000-95513000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:95509000-95513000	Enhancers	HSMMtube	muscle
40	chr9:95509200-95512400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:95509200-95512400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:95509400-95512400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:95509400-95512400	Enhancers	Colon Smooth Muscle	Colon
44	chr9:95509400-95512800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr9:95509400-95513600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr9:95509600-95512400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr9:95509600-95513000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr9:95509600-95517800	Weak transcription	Thymus	Thymus
49	chr9:95509800-95513000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:95509800-95522000	Weak transcription	Liver	Liver

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