Variant report

Variant	rs6467142
Chromosome Location	chr7:127370847-127370848
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	chr7:127364711..127367506-chr7:127369720..127371248,2	MCF-7	breast:
2	chr7:127363157..127364758-chr7:127370490..127372919,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1019578	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10228031	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10229187	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1025075	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1073155	0.83[ASN][1000 genomes]
rs1440973	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.85[ASN][1000 genomes]
rs1468702	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap]
rs17133046	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17151515	0.94[ASN][1000 genomes]
rs1833146	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1966517	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2582716	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325438	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325439	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325443	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325448	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325449	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325450	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs327509	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs327514	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs327515	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs327517	1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs4728078	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4731379	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4731382	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4731383	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4731384	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs537972	0.83[AMR][1000 genomes]
rs6467146	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467147	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467149	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467150	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467151	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6950211	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6952123	0.83[ASN][1000 genomes]
rs6953530	0.83[ASN][1000 genomes]
rs6964714	0.94[ASN][1000 genomes]
rs6972398	0.94[ASN][1000 genomes]
rs6976145	0.83[ASN][1000 genomes]
rs6979918	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698407	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs698409	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712706	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712708	1.00[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs712709	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712710	1.00[ASW][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[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712711	0.84[ASW][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];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712713	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712717	1.00[ASW][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[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73721253	0.83[ASN][1000 genomes]
rs73721258	0.83[ASN][1000 genomes]
rs73721264	0.83[ASN][1000 genomes]
rs7458839	0.89[ASN][1000 genomes]
rs7794303	0.94[ASN][1000 genomes]
rs7794328	0.94[ASN][1000 genomes]
rs7809182	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs806126	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806161	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806164	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806165	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806167	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806170	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806171	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs809333	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
4	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
2	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr7:127326800-127371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
5	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
6	chr7:127339400-127371000	Weak transcription	Right Atrium	heart
7	chr7:127344600-127371200	Weak transcription	Brain Germinal Matrix	brain
8	chr7:127347800-127383000	Strong transcription	NHEK	skin
9	chr7:127349600-127371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:127351400-127375600	Strong transcription	Liver	Liver
11	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr7:127351600-127382200	Strong transcription	K562	blood
13	chr7:127351800-127371000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:127352200-127372400	Strong transcription	HepG2	liver
15	chr7:127352600-127375600	Strong transcription	Primary T cells from cord blood	blood
16	chr7:127354200-127374000	Weak transcription	Fetal Brain Female	brain
17	chr7:127354200-127376600	Weak transcription	Psoas Muscle	Psoas
18	chr7:127355200-127380000	Strong transcription	GM12878-XiMat	blood
19	chr7:127356600-127375600	Strong transcription	Primary B cells from cord blood	blood
20	chr7:127357200-127375200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:127357400-127375000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr7:127357400-127375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:127357400-127380800	Strong transcription	Fetal Intestine Large	intestine
25	chr7:127357600-127375200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:127357600-127375400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:127357800-127378200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:127358000-127373000	Strong transcription	NH-A	brain
30	chr7:127358200-127374800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:127358800-127371000	Weak transcription	Esophagus	oesophagus
32	chr7:127358800-127371000	Weak transcription	Spleen	Spleen
33	chr7:127359800-127375400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:127360000-127377800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr7:127360000-127379200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:127360400-127374800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:127360600-127371200	Weak transcription	Brain Anterior Caudate	brain
38	chr7:127360600-127372800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:127360600-127382000	Strong transcription	Hela-S3	cervix
40	chr7:127360800-127377600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:127361200-127375400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:127361800-127371000	Weak transcription	Ovary	ovary
44	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
45	chr7:127363200-127371000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:127363800-127372000	Weak transcription	HUVEC	blood vessel
49	chr7:127363800-127372800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:127364400-127372600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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