Variant report

Variant	rs6593182
Chromosome Location	chr7:50855847-50855848
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	chr7:50855414..50858546-chr7:50859457..50861249,3	MCF-7	breast:
2	chr7:50763398..50765594-chr7:50855405..50857428,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10239980	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10272063	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10273302	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap]
rs10278363	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10486761	0.88[CEU][hapmap]
rs11238326	0.88[CEU][hapmap]
rs11238337	0.88[CEU][hapmap]
rs11238339	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs11983539	0.88[CEU][hapmap]
rs12536500	0.89[JPT][hapmap]
rs12665949	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12718928	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17134002	0.89[JPT][hapmap]
rs1962390	0.88[JPT][hapmap]
rs1978208	0.87[CEU][hapmap]
rs2051893	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2051894	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2051897	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074722	0.83[CEU][hapmap]
rs2074723	1.00[CHB][hapmap]
rs2301925	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329424	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs2329494	0.92[CEU][hapmap];0.93[JPT][hapmap]
rs2715119	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs3779072	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs4947861	0.92[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4947873	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4947888	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593164	0.83[CEU][hapmap]
rs6593174	0.83[CEU][hapmap]
rs6943901	0.88[CEU][hapmap]
rs6963498	0.88[CEU][hapmap]
rs6968827	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs6971834	0.88[CEU][hapmap]
rs6979369	0.81[CEU][hapmap]
rs757773	0.83[CEU][hapmap]
rs757774	0.83[CEU][hapmap]
rs7780348	0.88[JPT][hapmap]
rs7782797	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs7783789	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7786917	0.88[CEU][hapmap]
rs7794164	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794299	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs7805310	1.00[CHB][hapmap]
rs7808929	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7809357	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7809362	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50850800-50858600	Weak transcription	Aorta	Aorta
2	chr7:50851000-50856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:50851000-50859000	Weak transcription	NHLF	lung
4	chr7:50851200-50857000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:50851400-50857800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:50851400-50858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:50851600-50856000	Weak transcription	A549	lung
8	chr7:50851600-50857600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:50851600-50857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:50851600-50857800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:50851600-50858200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:50851600-50858200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:50851600-50859000	Weak transcription	Osteobl	bone
14	chr7:50852000-50858200	Weak transcription	Fetal Lung	lung
15	chr7:50852200-50858200	Weak transcription	HSMMtube	muscle
16	chr7:50852400-50856200	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:50852600-50857600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:50852800-50856200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:50853000-50857800	Weak transcription	NH-A	brain
20	chr7:50853400-50858200	Enhancers	Pancreas	Pancrea
21	chr7:50853400-50859800	Weak transcription	Gastric	stomach
22	chr7:50854400-50856400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:50854400-50856800	Enhancers	Right Atrium	heart
24	chr7:50854600-50856800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:50854600-50857800	Enhancers	HUVEC	blood vessel
26	chr7:50854800-50856600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:50854800-50857800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:50854800-50857800	Enhancers	Left Ventricle	heart
29	chr7:50854800-50858200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:50854800-50858200	Enhancers	Lung	lung
31	chr7:50855000-50857200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:50855200-50856200	Enhancers	Right Ventricle	heart
33	chr7:50855200-50856400	Enhancers	Psoas Muscle	Psoas
34	chr7:50855200-50856600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:50855200-50856800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:50855200-50856800	ZNF genes & repeats	Fetal Stomach	stomach
37	chr7:50855200-50857200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:50855200-50857200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:50855200-50857200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:50855200-50857200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:50855200-50857200	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr7:50855200-50857200	ZNF genes & repeats	Spleen	Spleen
43	chr7:50855200-50857400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:50855200-50857400	ZNF genes & repeats	Hela-S3	cervix
45	chr7:50855200-50858000	Genic enhancers	K562	blood
46	chr7:50855400-50856000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:50855400-50856200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:50855400-50856200	Weak transcription	Liver	Liver
49	chr7:50855400-50857400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:50855600-50856200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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