Variant report

Variant	rs1380
Chromosome Location	chr9:95147434-95147435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10114912	0.85[ASN][1000 genomes]
rs10114932	0.85[ASN][1000 genomes]
rs10115222	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10116813	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10118939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10120980	0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap]
rs10123342	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10125474	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs10739928	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10761147	0.83[ASN][1000 genomes]
rs10761150	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10761151	0.80[ASN][1000 genomes]
rs10761155	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs10761163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10820960	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs10820961	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs10820965	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10820966	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10820967	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10820968	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10820980	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs10992273	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10992280	0.83[ASN][1000 genomes]
rs10992303	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10992304	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10992349	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs10992366	0.85[ASN][1000 genomes]
rs1121978	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1121979	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs11788511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11790258	0.92[CHD][hapmap];0.82[MEX][hapmap]
rs11791001	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11791339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11791805	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11792342	0.83[ASN][1000 genomes]
rs11792916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793563	0.81[AMR][1000 genomes]
rs11793727	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11794346	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap]
rs12336415	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs12341817	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs12342019	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs13301537	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs1535756	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1980848	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2094281	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2151618	0.83[ASN][1000 genomes]
rs2236341	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs2273862	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs2295941	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs2516568	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2761677	0.82[ASN][1000 genomes]
rs2761678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2761681	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs35097446	0.85[ASN][1000 genomes]
rs35563794	0.83[ASN][1000 genomes]
rs3758229	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs3780345	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3824424	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743873	1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap]
rs4744137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4744138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs62572543	0.83[ASN][1000 genomes]
rs6479418	0.83[ASN][1000 genomes]
rs6479422	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs7024190	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7027595	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7029879	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029939	0.82[ASN][1000 genomes]
rs7030920	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7033333	0.81[AMR][1000 genomes]
rs7033979	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7040949	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7042335	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7043152	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7045572	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs747628	0.93[ASN][1000 genomes]
rs7847534	0.93[ASN][1000 genomes]
rs7848055	0.83[ASN][1000 genomes]
rs7848472	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7850528	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap]
rs7864575	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7865019	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7867909	0.83[ASN][1000 genomes]
rs7868013	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7872610	0.89[ASN][1000 genomes]
rs7873397	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7874151	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9299403	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs9299405	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs968040	0.86[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs987553	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1053205	chr9:95119195-95182612	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95135200-95149800	Weak transcription	Primary B cells from cord blood	blood
2	chr9:95135600-95148000	Weak transcription	Ovary	ovary
3	chr9:95138000-95152400	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:95139000-95163200	Weak transcription	Aorta	Aorta
5	chr9:95140400-95148000	Weak transcription	Fetal Stomach	stomach
6	chr9:95142000-95159400	Weak transcription	Fetal Intestine Large	intestine
7	chr9:95142200-95165600	Weak transcription	Fetal Thymus	thymus
8	chr9:95143800-95148000	Weak transcription	Dnd41	blood
9	chr9:95144200-95158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr9:95145000-95163800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:95146200-95147600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:95146200-95148000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:95146200-95148600	Enhancers	NH-A	brain
14	chr9:95146200-95148600	Enhancers	Osteobl	bone
15	chr9:95146400-95147800	Enhancers	Hela-S3	cervix
16	chr9:95146400-95148000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:95146400-95148400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:95146400-95149000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:95146600-95147800	Enhancers	NHEK	skin
20	chr9:95146600-95148000	Enhancers	A549	lung
21	chr9:95146600-95148200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:95146600-95149000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:95146800-95147600	Enhancers	HUVEC	blood vessel
24	chr9:95146800-95148200	Enhancers	NHDF-Ad	bronchial
25	chr9:95146800-95148600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr9:95146800-95152400	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:95146800-95152400	Weak transcription	Fetal Lung	lung
28	chr9:95147000-95148000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:95147000-95149000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:95147200-95147600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:95147400-95147600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:95147400-95148400	Enhancers	Liver	Liver
33	chr9:95147400-95149000	Enhancers	HMEC	breast

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