Variant report

Variant	rs2787374
Chromosome Location	chr9:103054951-103054952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:103048911..103050784-chr9:103054222..103056067,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10117799	0.85[ASN][1000 genomes]
rs10118701	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs10123866	0.85[ASN][1000 genomes]
rs10123913	0.85[ASN][1000 genomes]
rs10124893	0.83[ASN][1000 genomes]
rs10125785	0.83[ASN][1000 genomes]
rs1014652	0.84[CHD][hapmap]
rs10760724	0.80[ASN][1000 genomes]
rs10819751	0.83[ASN][1000 genomes]
rs10819759	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.82[ASN][1000 genomes]
rs10988973	0.84[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap]
rs10989049	0.83[ASN][1000 genomes]
rs10989064	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs10989067	0.86[CHB][hapmap]
rs11789196	0.85[ASN][1000 genomes]
rs12552646	0.84[CEU][hapmap];0.84[CHD][hapmap];0.85[MEX][hapmap]
rs1338121	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.92[LWK][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1338123	0.83[ASN][1000 genomes]
rs1338124	0.83[ASN][1000 genomes]
rs1338125	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs1338126	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1361668	0.84[CEU][hapmap]
rs1535667	0.89[CEU][hapmap]
rs1539297	0.84[CEU][hapmap]
rs1572607	0.89[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];0.81[EUR][1000 genomes]
rs1930243	1.00[CHD][hapmap]
rs1999877	0.89[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap]
rs2057476	0.84[CEU][hapmap]
rs2065997	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2151131	1.00[CHD][hapmap]
rs2181579	0.84[CEU][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap]
rs2245216	0.82[ASN][1000 genomes]
rs2476441	0.84[CHD][hapmap]
rs2485745	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs2491096	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2491098	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2787361	0.84[CHD][hapmap]
rs2787364	0.89[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];0.81[EUR][1000 genomes]
rs2787365	0.84[CHD][hapmap];0.84[MEX][hapmap]
rs2787366	0.84[CHD][hapmap]
rs2787368	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2787369	0.85[ASN][1000 genomes]
rs2787371	0.86[ASN][1000 genomes]
rs2787372	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2787373	0.85[ASN][1000 genomes]
rs2787375	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs2787377	0.83[ASN][1000 genomes]
rs2787379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2787380	0.85[ASN][1000 genomes]
rs2787381	0.85[ASN][1000 genomes]
rs2787382	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2787383	0.83[ASN][1000 genomes]
rs2787384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2787385	0.82[ASN][1000 genomes]
rs2787386	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2787388	0.83[ASN][1000 genomes]
rs2787390	1.00[CHD][hapmap]
rs2787393	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2787395	0.84[CHD][hapmap];0.85[MEX][hapmap]
rs2787396	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2787397	0.91[CHD][hapmap]
rs2806681	0.89[CEU][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2806684	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2806685	0.83[EUR][1000 genomes]
rs2806687	0.89[CEU][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2806688	0.82[EUR][1000 genomes]
rs2806689	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2806690	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2806691	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]
rs2806692	0.83[ASN][1000 genomes]
rs2806693	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs2806694	0.83[ASN][1000 genomes]
rs2806695	0.82[ASN][1000 genomes]
rs2806696	0.83[ASN][1000 genomes]
rs2806697	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2806699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806700	0.92[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2806701	0.88[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2806702	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs2806703	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3813712	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs3923501	0.83[ASN][1000 genomes]
rs4128230	0.80[ASN][1000 genomes]
rs4237194	1.00[CHD][hapmap]
rs4237195	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.85[ASN][1000 genomes]
rs4446782	0.83[ASN][1000 genomes]
rs4742782	0.85[ASN][1000 genomes]
rs4742784	0.86[CHB][hapmap]
rs4743392	0.83[ASN][1000 genomes]
rs4743393	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4743395	0.86[CHB][hapmap]
rs5029342	0.85[ASN][1000 genomes]
rs5029343	0.83[ASN][1000 genomes]
rs6479001	0.84[CHD][hapmap]
rs6479002	0.84[CHD][hapmap]
rs6479008	0.82[ASN][1000 genomes]
rs6479009	0.83[ASN][1000 genomes]
rs6479013	1.00[CHD][hapmap]
rs7020988	0.83[ASN][1000 genomes]
rs7025938	0.85[CHD][hapmap];0.82[GIH][hapmap];0.85[ASN][1000 genomes]
rs7035619	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs7472	0.85[ASN][1000 genomes]
rs7846794	0.84[CHD][hapmap]
rs7849966	0.83[ASN][1000 genomes]
rs7854693	0.85[ASN][1000 genomes]
rs7861003	0.84[CHD][hapmap]
rs7864494	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs7865678	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7874900	1.00[CHD][hapmap]
rs846753	0.84[CHD][hapmap]
rs846756	0.84[CHD][hapmap]
rs846759	0.89[CEU][hapmap]
rs846762	0.89[CEU][hapmap]
rs846766	0.85[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap]
rs914711	1.00[CHD][hapmap]
rs9408998	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs944710	1.00[CHD][hapmap]
rs946054	0.85[ASN][1000 genomes]
rs9775014	0.80[ASN][1000 genomes]
rs9775182	0.83[ASN][1000 genomes]
rs9886877	0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv972794	chr9:103048878-103055461	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103040400-103058600	Weak transcription	NH-A	brain
2	chr9:103044000-103067800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:103044200-103071200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:103044600-103102400	Weak transcription	Stomach Mucosa	stomach
5	chr9:103044800-103067800	Strong transcription	Stomach Smooth Muscle	stomach
6	chr9:103046000-103075400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr9:103046200-103060000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:103046200-103072800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:103046400-103104000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:103046600-103092400	Strong transcription	Fetal Thymus	thymus
11	chr9:103046800-103055400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:103047000-103057000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr9:103047000-103061400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:103047200-103063000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:103047400-103070800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:103047600-103057400	Strong transcription	Fetal Intestine Large	intestine
17	chr9:103047800-103058400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:103048000-103056800	Weak transcription	NHDF-Ad	bronchial
19	chr9:103048000-103068600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:103048000-103078000	Strong transcription	Primary T cells from cord blood	blood
21	chr9:103048200-103055400	Weak transcription	Fetal Brain Male	brain
22	chr9:103048200-103058600	Weak transcription	K562	blood
23	chr9:103048200-103060000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:103048200-103060600	Weak transcription	HUVEC	blood vessel
25	chr9:103048200-103061000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr9:103048200-103061200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:103048200-103062600	Weak transcription	Small Intestine	intestine
28	chr9:103048200-103064600	Strong transcription	Adipose Nuclei	Adipose
29	chr9:103048200-103069600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:103048400-103057200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:103048400-103068200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:103048400-103083000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr9:103048600-103067600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:103049000-103073800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:103049200-103060600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:103049400-103066800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr9:103049600-103057400	Strong transcription	HepG2	liver
38	chr9:103049600-103065800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:103050000-103066400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:103050400-103065000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:103050600-103056800	Strong transcription	Liver	Liver
42	chr9:103050600-103058200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:103050600-103060000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr9:103050600-103061200	Strong transcription	Ovary	ovary
45	chr9:103050600-103064800	Weak transcription	Psoas Muscle	Psoas
46	chr9:103050600-103067400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:103050600-103067400	Strong transcription	A549	lung
48	chr9:103050600-103069600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr9:103050600-103086400	Strong transcription	Dnd41	blood
50	chr9:103050800-103080400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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