Variant report

Variant	rs6465880
Chromosome Location	chr7:102515237-102515238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102513883..102516664-chr7:102520756..102522395,2	K562	blood:
2	chr7:102510827..102513027-chr7:102515036..102518141,3	K562	blood:
3	chr7:102503409..102506375-chr7:102514987..102518844,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10241865	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10242028	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250490	0.96[ASN][1000 genomes]
rs10257317	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10271157	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10271184	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10273725	0.91[ASN][1000 genomes]
rs10279449	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10953374	0.82[EUR][1000 genomes]
rs1100046	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11514917	0.85[ASN][1000 genomes]
rs11978799	0.92[ASN][1000 genomes]
rs11981980	0.84[ASN][1000 genomes]
rs12537977	0.96[ASN][1000 genomes]
rs12668434	0.88[ASN][1000 genomes]
rs13233521	0.90[ASN][1000 genomes]
rs13242493	0.86[ASN][1000 genomes]
rs1541519	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1608651	0.81[ASN][1000 genomes]
rs17136090	0.88[ASN][1000 genomes]
rs2190673	0.94[ASN][1000 genomes]
rs2411056	0.88[ASN][1000 genomes]
rs2411059	0.87[ASN][1000 genomes]
rs28856331	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs41501847	0.92[ASN][1000 genomes]
rs4296965	0.87[ASN][1000 genomes]
rs4620204	0.90[ASN][1000 genomes]
rs4729860	0.82[ASN][1000 genomes]
rs56269620	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57253646	0.81[ASN][1000 genomes]
rs59544295	0.89[ASN][1000 genomes]
rs59709436	0.89[ASN][1000 genomes]
rs6465876	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6465878	0.92[ASN][1000 genomes]
rs6946773	0.81[ASN][1000 genomes]
rs6947403	0.88[ASN][1000 genomes]
rs6949391	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6953980	0.92[ASN][1000 genomes]
rs6960428	0.90[ASN][1000 genomes]
rs6969054	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7779145	0.89[ASN][1000 genomes]
rs7780981	0.81[ASN][1000 genomes]
rs7789252	0.81[ASN][1000 genomes]
rs7794668	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7800548	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7804322	0.89[ASN][1000 genomes]
rs847646	0.88[ASN][1000 genomes]
rs847648	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs847649	0.93[ASN][1000 genomes]
rs847656	0.90[ASN][1000 genomes]
rs847658	0.88[ASN][1000 genomes]
rs865865	0.86[ASN][1000 genomes]
rs869332	0.81[ASN][1000 genomes]
rs9718453	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv5880	chr7:102505158-102550471	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
2	chr7:102500600-102518400	Weak transcription	Left Ventricle	heart
3	chr7:102501200-102515800	Weak transcription	Gastric	stomach
4	chr7:102501200-102530800	Weak transcription	Ovary	ovary
5	chr7:102502600-102516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:102504800-102516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:102507400-102519400	Weak transcription	Fetal Kidney	kidney
8	chr7:102508000-102522200	Weak transcription	Fetal Stomach	stomach
9	chr7:102508000-102529200	Weak transcription	Fetal Lung	lung
10	chr7:102512200-102517000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:102512200-102517400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:102512200-102517400	Enhancers	Hela-S3	cervix
13	chr7:102512200-102517600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:102512200-102517600	Enhancers	HMEC	breast
15	chr7:102512200-102517600	Enhancers	NHDF-Ad	bronchial
16	chr7:102512400-102516600	Enhancers	HSMMtube	muscle
17	chr7:102512400-102517200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:102512400-102517200	Enhancers	NHLF	lung
19	chr7:102512400-102517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:102512400-102517400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:102512600-102517400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:102512600-102517600	Enhancers	NHEK	skin
23	chr7:102512800-102517400	Enhancers	Osteobl	bone
24	chr7:102512800-102517600	Enhancers	NH-A	brain
25	chr7:102513000-102516800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:102513000-102517800	Enhancers	HUVEC	blood vessel
27	chr7:102513400-102517000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:102513400-102517000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:102513800-102516000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:102513800-102516800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:102513800-102517200	Enhancers	Stomach Mucosa	stomach
32	chr7:102513800-102531600	Weak transcription	Fetal Brain Male	brain
33	chr7:102514000-102515400	Enhancers	Fetal Muscle Leg	muscle
34	chr7:102514000-102515600	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:102514000-102515600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr7:102514000-102516400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:102514000-102516800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:102514000-102516800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:102514200-102515600	Flanking Active TSS	A549	lung
40	chr7:102514200-102515800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:102514400-102515800	Enhancers	HSMM	muscle
42	chr7:102514400-102517000	Enhancers	HepG2	liver
43	chr7:102514600-102515400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:102514600-102515800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:102514800-102516000	Weak transcription	K562	blood
46	chr7:102514800-102516800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:102515000-102515400	Enhancers	Fetal Muscle Trunk	muscle
48	chr7:102515000-102515600	Enhancers	Fetal Thymus	thymus
49	chr7:102515000-102515800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:102515000-102518400	Weak transcription	Primary T cells from cord blood	blood

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