Variant report

Variant	rs2140128
Chromosome Location	chr7:99327158-99327159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99214549..99216608-chr7:99325712..99327239,2	MCF-7	breast:
2	chr7:99327130..99328855-chr7:99331843..99334078,2	K562	blood:

Variant related genes	Relation type
ENSG00000160870	Chromatin interaction
ENSG00000197037	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10211	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10227637	0.82[AMR][1000 genomes]
rs10229552	0.84[ASN][1000 genomes]
rs10242455	0.85[ASN][1000 genomes]
rs10258552	0.81[ASN][1000 genomes]
rs10282706	0.83[ASN][1000 genomes]
rs12334072	0.82[ASN][1000 genomes]
rs12334077	0.84[ASN][1000 genomes]
rs12360	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13362853	0.83[ASN][1000 genomes]
rs1357319	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403196	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs15524	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1818797	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1851425	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1851427	0.86[ASN][1000 genomes]
rs1859690	0.82[ASN][1000 genomes]
rs1879859	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2005548	0.80[ASN][1000 genomes]
rs2037497	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037498	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037499	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177180	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2222411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2257401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2404769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687072	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687075	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2687076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687078	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687079	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687081	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687084	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687085	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687086	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2687087	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2687133	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2687134	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2687135	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687142	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687143	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687144	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687145	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740560	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740562	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740563	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2740565	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2741872	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2948343	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2948344	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3735453	0.83[ASN][1000 genomes]
rs45442295	0.88[ASN][1000 genomes]
rs45600842	0.88[ASN][1000 genomes]
rs45624139	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646450	0.85[ASN][1000 genomes]
rs4646457	0.85[ASN][1000 genomes]
rs4646461	0.98[ASN][1000 genomes]
rs4646462	0.86[ASN][1000 genomes]
rs4646465	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55852703	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58649180	0.98[ASN][1000 genomes]
rs59172435	0.86[ASN][1000 genomes]
rs60298785	0.86[ASN][1000 genomes]
rs61593387	0.86[ASN][1000 genomes]
rs6465750	0.86[ASN][1000 genomes]
rs72494453	0.84[ASN][1000 genomes]
rs72494454	0.86[ASN][1000 genomes]
rs72494455	0.98[ASN][1000 genomes]
rs72494456	0.86[ASN][1000 genomes]
rs73410654	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776739	0.86[EUR][1000 genomes]
rs776742	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776744	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776745	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs776746	0.88[ASN][1000 genomes]
rs7780328	0.82[AMR][1000 genomes]
rs7808022	0.81[ASN][1000 genomes]
rs939955	0.86[ASN][1000 genomes]
rs9769359	0.81[AMR][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	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv888771	chr7:99294762-99355278	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3378448	chr7:99295540-99331065	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv12642	chr7:99322829-99327194	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99303200-99337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:99306000-99339000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:99306800-99340800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:99307200-99334400	Weak transcription	Left Ventricle	heart
5	chr7:99311800-99349000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:99314800-99334400	Weak transcription	Esophagus	oesophagus
7	chr7:99315600-99331200	Weak transcription	Aorta	Aorta
8	chr7:99318000-99334600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:99319200-99327800	Weak transcription	Primary T cells from cord blood	blood
10	chr7:99320000-99337200	Weak transcription	Brain Angular Gyrus	brain
11	chr7:99321800-99338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:99324400-99339200	Weak transcription	Brain Substantia Nigra	brain
13	chr7:99324600-99327400	Weak transcription	Stomach Mucosa	stomach
14	chr7:99325200-99329000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:99325600-99327400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:99325800-99328800	Enhancers	Fetal Intestine Large	intestine
17	chr7:99325800-99329000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:99325800-99329000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:99325800-99329200	Enhancers	Fetal Intestine Small	intestine
20	chr7:99325800-99329400	Enhancers	HepG2	liver
21	chr7:99326000-99328600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:99326000-99328600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:99326000-99328800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:99326000-99329200	Enhancers	Placenta	Placenta
25	chr7:99326000-99329600	Enhancers	HMEC	breast
26	chr7:99326200-99327400	Weak transcription	Fetal Thymus	thymus
27	chr7:99326200-99328600	Enhancers	NHEK	skin
28	chr7:99326200-99334800	Weak transcription	Spleen	Spleen
29	chr7:99326400-99327600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:99326400-99327600	Enhancers	Fetal Lung	lung
31	chr7:99326400-99328400	Enhancers	Hela-S3	cervix
32	chr7:99326600-99328600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:99326800-99327800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:99326800-99328000	Enhancers	Liver	Liver
35	chr7:99327000-99327600	Enhancers	Pancreas	Pancrea

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