Variant report

Variant	rs56832651
Chromosome Location	chr5:37669030-37669031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37659630..37663695-chr5:37665450..37669812,5	K562	blood:
2	chr5:37619614..37621754-chr5:37668153..37669761,2	MCF-7	breast:
3	chr5:37667989..37670619-chr5:37702239..37705026,2	MCF-7	breast:
4	chr5:37658934..37661849-chr5:37667178..37669216,3	MCF-7	breast:
5	chr5:37662824..37665076-chr5:37668148..37670201,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222743	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10805627	0.96[ASN][1000 genomes]
rs10941358	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10941359	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1126290	0.84[AMR][1000 genomes]
rs11739400	0.99[ASN][1000 genomes]
rs11740897	0.97[ASN][1000 genomes]
rs11742904	0.94[ASN][1000 genomes]
rs11745980	0.99[ASN][1000 genomes]
rs11747548	0.98[ASN][1000 genomes]
rs11747900	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749563	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11750837	0.95[ASN][1000 genomes]
rs11750840	0.95[ASN][1000 genomes]
rs11949124	0.83[AMR][1000 genomes]
rs12189078	0.91[ASN][1000 genomes]
rs12332088	0.98[ASN][1000 genomes]
rs12516955	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12520944	0.99[ASN][1000 genomes]
rs12521063	0.99[ASN][1000 genomes]
rs12655908	0.85[AMR][1000 genomes]
rs1356433	0.95[ASN][1000 genomes]
rs1400854	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1517786	0.99[ASN][1000 genomes]
rs1589116	0.87[AMR][1000 genomes]
rs1589119	0.96[ASN][1000 genomes]
rs1996427	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176478	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2176479	0.96[ASN][1000 genomes]
rs4242251	0.88[ASN][1000 genomes]
rs4257799	0.87[ASN][1000 genomes]
rs4343860	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4371784	0.95[ASN][1000 genomes]
rs4451075	0.91[ASN][1000 genomes]
rs4482927	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4516881	0.94[ASN][1000 genomes]
rs4516882	0.95[ASN][1000 genomes]
rs4541680	0.92[ASN][1000 genomes]
rs4582305	0.85[ASN][1000 genomes]
rs4594879	0.91[ASN][1000 genomes]
rs4608942	0.95[ASN][1000 genomes]
rs4618454	0.94[ASN][1000 genomes]
rs4869440	0.84[AMR][1000 genomes]
rs4869530	0.83[AMR][1000 genomes]
rs4869538	0.86[AMR][1000 genomes]
rs4869541	0.99[ASN][1000 genomes]
rs4869543	0.94[ASN][1000 genomes]
rs55708822	0.95[ASN][1000 genomes]
rs55732996	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55742744	0.96[ASN][1000 genomes]
rs55849485	0.87[ASN][1000 genomes]
rs55960353	0.83[AMR][1000 genomes]
rs56007806	0.99[ASN][1000 genomes]
rs56051431	0.95[ASN][1000 genomes]
rs56051756	0.95[ASN][1000 genomes]
rs56100322	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56288111	0.86[AMR][1000 genomes]
rs56412589	0.97[ASN][1000 genomes]
rs57015453	0.85[AMR][1000 genomes]
rs59378089	0.93[ASN][1000 genomes]
rs59409868	1.00[ASN][1000 genomes]
rs59829323	0.95[ASN][1000 genomes]
rs60589722	0.96[ASN][1000 genomes]
rs61435914	0.85[AMR][1000 genomes]
rs61492379	0.91[ASN][1000 genomes]
rs62359058	0.85[AMR][1000 genomes]
rs62360907	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62360910	0.95[ASN][1000 genomes]
rs6451329	0.95[ASN][1000 genomes]
rs6451330	0.94[ASN][1000 genomes]
rs6451331	0.94[ASN][1000 genomes]
rs6451333	0.99[ASN][1000 genomes]
rs6451337	0.95[ASN][1000 genomes]
rs6451339	0.94[ASN][1000 genomes]
rs6863936	0.98[ASN][1000 genomes]
rs6864924	0.89[ASN][1000 genomes]
rs6868428	0.99[ASN][1000 genomes]
rs6884551	0.93[ASN][1000 genomes]
rs6884569	0.93[ASN][1000 genomes]
rs6885057	0.98[ASN][1000 genomes]
rs6885329	0.97[ASN][1000 genomes]
rs6887215	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6887613	0.99[ASN][1000 genomes]
rs72743184	0.88[ASN][1000 genomes]
rs7702644	0.96[ASN][1000 genomes]
rs7703775	0.87[ASN][1000 genomes]
rs7725465	0.99[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	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37654600-37671800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:37656600-37671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:37662800-37671800	Weak transcription	Small Intestine	intestine
4	chr5:37664000-37671800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:37665400-37669400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:37665400-37669800	Enhancers	NHLF	lung
7	chr5:37665600-37669200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:37665800-37671200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:37665800-37672400	Weak transcription	Primary B cells from cord blood	blood
10	chr5:37666000-37669200	Enhancers	Fetal Intestine Large	intestine
11	chr5:37666200-37671800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:37666200-37672200	Weak transcription	Right Ventricle	heart
13	chr5:37666400-37669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:37666400-37672400	Weak transcription	Left Ventricle	heart
15	chr5:37666600-37669200	Enhancers	Colon Smooth Muscle	Colon
16	chr5:37666600-37671800	Weak transcription	Fetal Heart	heart
17	chr5:37666800-37669600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:37666800-37671400	Weak transcription	Psoas Muscle	Psoas
19	chr5:37666800-37672400	Weak transcription	Adipose Nuclei	Adipose
20	chr5:37667000-37671000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:37667000-37672200	Weak transcription	Lung	lung
22	chr5:37667200-37669600	Weak transcription	Aorta	Aorta
23	chr5:37667400-37669200	Enhancers	Hela-S3	cervix
24	chr5:37667400-37669400	Enhancers	Osteobl	bone
25	chr5:37667400-37669800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:37667400-37671800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:37667600-37669800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:37667600-37669800	Enhancers	HMEC	breast
29	chr5:37667600-37669800	Enhancers	NHDF-Ad	bronchial
30	chr5:37667800-37669200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:37667800-37669200	Enhancers	Fetal Intestine Small	intestine
32	chr5:37667800-37669800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:37668000-37669200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:37668000-37669200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:37668000-37669200	Flanking Active TSS	A549	lung
36	chr5:37668000-37669200	Enhancers	HUVEC	blood vessel
37	chr5:37668000-37669400	Enhancers	HSMM	muscle
38	chr5:37668000-37669600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:37668000-37669800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:37668000-37669800	Enhancers	NH-A	brain
41	chr5:37668200-37669200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:37668200-37669200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr5:37668200-37669200	Enhancers	HSMMtube	muscle
44	chr5:37668200-37669200	Enhancers	K562	blood
45	chr5:37668200-37669400	Enhancers	NHEK	skin
46	chr5:37668200-37670000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:37668400-37669200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr5:37668400-37669200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:37668400-37669200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:37668400-37669200	Enhancers	Stomach Mucosa	stomach

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