Variant report

Variant	rs2806691
Chromosome Location	chr9:103024370-103024371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103023176..103026390-chr9:103028686..103031625,3	K562	blood:
2	chr9:103006938..103009209-chr9:103023214..103024731,2	K562	blood:
3	chr9:103021618..103025273-chr9:103028686..103032973,4	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10117799	0.86[ASN][1000 genomes]
rs10118701	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs10123866	0.86[ASN][1000 genomes]
rs10123913	0.86[ASN][1000 genomes]
rs10124893	0.84[ASN][1000 genomes]
rs10125785	0.84[ASN][1000 genomes]
rs1014652	0.84[CHD][hapmap]
rs10739795	0.84[CHD][hapmap]
rs10760724	0.81[ASN][1000 genomes]
rs10819739	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10819751	0.87[ASN][1000 genomes]
rs10819759	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.83[ASN][1000 genomes]
rs10988973	0.84[CEU][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.89[MEX][hapmap]
rs10989049	0.84[ASN][1000 genomes]
rs10989064	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs10989067	0.86[CHB][hapmap]
rs1099910	0.81[EUR][1000 genomes]
rs11789196	0.86[ASN][1000 genomes]
rs12552646	0.84[CEU][hapmap];0.84[CHD][hapmap];0.85[MEX][hapmap]
rs1338121	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1338123	0.87[ASN][1000 genomes]
rs1338124	0.87[ASN][1000 genomes]
rs1338125	1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs1338126	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1342147	0.84[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap]
rs1361668	0.84[CEU][hapmap]
rs1529191	0.84[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap]
rs1529192	0.84[CHD][hapmap]
rs1535667	0.88[CEU][hapmap]
rs1539297	0.84[CEU][hapmap]
rs1572607	0.88[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.83[EUR][1000 genomes]
rs1930243	1.00[CHD][hapmap]
rs1999877	0.88[CEU][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.82[EUR][1000 genomes]
rs2057476	0.84[CEU][hapmap]
rs2065997	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2151131	1.00[CHD][hapmap]
rs2181579	0.84[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap]
rs2245216	0.86[ASN][1000 genomes]
rs2476439	0.81[AMR][1000 genomes]
rs2476441	0.84[CHD][hapmap]
rs2485745	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs2491096	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2491098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2787361	0.84[CHD][hapmap]
rs2787364	0.88[CEU][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.83[EUR][1000 genomes]
rs2787365	0.84[CHD][hapmap];0.84[MEX][hapmap]
rs2787366	0.84[CHD][hapmap]
rs2787368	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs2787369	0.83[ASN][1000 genomes]
rs2787371	0.84[ASN][1000 genomes]
rs2787372	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs2787373	0.86[ASN][1000 genomes]
rs2787374	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2787375	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs2787377	0.84[ASN][1000 genomes]
rs2787379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2787380	0.86[ASN][1000 genomes]
rs2787381	0.86[ASN][1000 genomes]
rs2787382	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787383	0.87[ASN][1000 genomes]
rs2787384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787385	0.86[ASN][1000 genomes]
rs2787386	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2787388	0.87[ASN][1000 genomes]
rs2787390	1.00[CHD][hapmap]
rs2787393	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2787395	0.84[CHD][hapmap];0.85[MEX][hapmap]
rs2787396	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2787397	0.91[CHD][hapmap]
rs2806681	0.88[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2806684	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2806685	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2806687	0.88[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.94[MEX][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2806688	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2806689	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2806692	0.87[ASN][1000 genomes]
rs2806693	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs2806694	0.84[ASN][1000 genomes]
rs2806695	0.86[ASN][1000 genomes]
rs2806696	0.87[ASN][1000 genomes]
rs2806697	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2806699	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2806700	0.92[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2806701	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2806702	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs2806703	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3813712	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs3923501	0.84[ASN][1000 genomes]
rs4128230	0.81[ASN][1000 genomes]
rs4237194	1.00[CHD][hapmap]
rs4237195	0.86[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.86[ASN][1000 genomes]
rs4446782	0.84[ASN][1000 genomes]
rs4517187	0.84[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap]
rs4742782	0.86[ASN][1000 genomes]
rs4742784	0.86[CHB][hapmap]
rs4743392	0.84[ASN][1000 genomes]
rs4743393	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs4743395	0.86[CHB][hapmap]
rs5029342	0.86[ASN][1000 genomes]
rs5029343	0.84[ASN][1000 genomes]
rs6479001	0.84[CHD][hapmap]
rs6479002	0.84[CHD][hapmap]
rs6479008	0.83[ASN][1000 genomes]
rs6479009	0.84[ASN][1000 genomes]
rs6479013	1.00[CHD][hapmap]
rs7020988	0.84[ASN][1000 genomes]
rs7025938	0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs7035619	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs7472	0.86[ASN][1000 genomes]
rs7846794	0.84[CHD][hapmap]
rs7849966	0.84[ASN][1000 genomes]
rs7854693	0.86[ASN][1000 genomes]
rs7856844	0.80[EUR][1000 genomes]
rs7861003	0.84[CHD][hapmap]
rs7864494	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs7865678	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7874900	1.00[CHD][hapmap]
rs846753	0.84[CHD][hapmap]
rs846756	0.84[CHD][hapmap]
rs846759	0.88[CEU][hapmap]
rs846762	0.88[CEU][hapmap]
rs846766	0.85[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap]
rs914711	1.00[CHD][hapmap]
rs9408998	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs944710	1.00[CHD][hapmap]
rs946054	0.86[ASN][1000 genomes]
rs9775014	0.81[ASN][1000 genomes]
rs9775182	0.84[ASN][1000 genomes]
rs9886877	0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv1835721	chr9:102991314-103096666	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	esv3353349	chr9:103014446-103038360	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102972400-103035200	Weak transcription	Esophagus	oesophagus
2	chr9:102972600-103027200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:102972600-103046600	Weak transcription	Psoas Muscle	Psoas
4	chr9:102973000-103027400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr9:102973000-103053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:102974000-103047600	Weak transcription	Fetal Brain Male	brain
7	chr9:102975800-103045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:102976800-103047800	Weak transcription	Fetal Heart	heart
9	chr9:102979400-103054600	Weak transcription	NHEK	skin
10	chr9:102987400-103045800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr9:102987400-103054600	Weak transcription	Gastric	stomach
12	chr9:102989400-103047200	Weak transcription	GM12878-XiMat	blood
13	chr9:102989600-103027600	Weak transcription	A549	lung
14	chr9:102992400-103027200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:102992600-103039000	Weak transcription	NHDF-Ad	bronchial
16	chr9:102994800-103046600	Weak transcription	Pancreas	Pancrea
17	chr9:102997800-103054400	Weak transcription	Colonic Mucosa	Colon
18	chr9:102999600-103027400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr9:102999800-103028000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr9:102999800-103035200	Weak transcription	Right Ventricle	heart
21	chr9:103000000-103034800	Weak transcription	Aorta	Aorta
22	chr9:103000200-103027400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr9:103002600-103027200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:103003400-103046800	Weak transcription	HMEC	breast
25	chr9:103006000-103027400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr9:103006000-103039200	Weak transcription	HSMM	muscle
27	chr9:103007800-103027200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:103008800-103039600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:103009400-103047600	Weak transcription	HUVEC	blood vessel
30	chr9:103010800-103035400	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:103013000-103047400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr9:103015000-103034800	Weak transcription	Thymus	Thymus
33	chr9:103015000-103046800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:103015400-103026200	Weak transcription	Primary T cells from cord blood	blood
35	chr9:103015400-103027000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr9:103015400-103027200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:103015400-103027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:103015400-103027200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:103015400-103027200	Weak transcription	Fetal Intestine Large	intestine
40	chr9:103015400-103027200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:103015400-103027400	Weak transcription	Hela-S3	cervix
42	chr9:103015400-103027600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:103015400-103027600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:103015400-103027800	Weak transcription	Brain Angular Gyrus	brain
45	chr9:103015400-103039200	Weak transcription	Osteobl	bone
46	chr9:103015400-103039800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:103015400-103046400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr9:103015400-103046600	Weak transcription	Brain Substantia Nigra	brain
49	chr9:103015400-103046800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:103015600-103027000	Weak transcription	Primary B cells from cord blood	blood

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