Variant report

Variant	rs7752930
Chromosome Location	chr6:33586748-33586749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:33586720-33586870	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33557568..33558267-chr6:33586070..33586956,2	MCF-7	breast:
2	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
3	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:

Variant related genes	Relation type
ITPR3	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000204188	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10947416	0.82[AFR][1000 genomes]
rs11754015	0.95[AFR][1000 genomes]
rs12529825	1.00[JPT][hapmap]
rs1536042	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1536043	0.82[AFR][1000 genomes]
rs16869178	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1755041	1.00[ASN][1000 genomes]
rs1755042	1.00[ASN][1000 genomes]
rs1755054	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1794686	1.00[ASN][1000 genomes]
rs1794688	1.00[ASN][1000 genomes]
rs2068236	1.00[ASN][1000 genomes]
rs2147655	1.00[ASN][1000 genomes]
rs2395451	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711333	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4711334	1.00[ASN][1000 genomes]
rs4713641	0.82[AFR][1000 genomes]
rs4713642	0.82[AFR][1000 genomes]
rs4713647	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713652	1.00[ASN][1000 genomes]
rs472990	1.00[ASN][1000 genomes]
rs480568	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs485623	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs494654	0.81[AFR][1000 genomes]
rs535584	1.00[ASN][1000 genomes]
rs542056	1.00[ASN][1000 genomes]
rs542725	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs549719	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55700437	1.00[ASN][1000 genomes]
rs557559	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs560218	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs561276	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs572824	1.00[ASN][1000 genomes]
rs580247	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6906810	1.00[ASN][1000 genomes]
rs71536195	1.00[ASN][1000 genomes]
rs7750812	0.85[AFR][1000 genomes]
rs7757391	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757722	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759154	1.00[ASN][1000 genomes]
rs7762843	1.00[JPT][hapmap]
rs7768401	0.82[AFR][1000 genomes]
rs7769019	0.85[AFR][1000 genomes]
rs7775313	1.00[ASN][1000 genomes]
rs806604	1.00[ASN][1000 genomes]
rs9368770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394157	0.91[YRI][hapmap]
rs9689326	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
6	esv3471778	chr6:33581874-33587572	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3502814	chr6:33581974-33586972	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3502822	chr6:33582379-33587443	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3502820	chr6:33582474-33586872	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv2575696	chr6:33582877-33586760	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3471783	chr6:33582999-33586847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv1814733	chr6:33584788-33587443	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv1822053	chr6:33584788-33587443	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv1822157	chr6:33584788-33587443	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33578000-33587000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:33578800-33588000	Weak transcription	Gastric	stomach
3	chr6:33579200-33587000	Weak transcription	Pancreas	Pancrea
4	chr6:33579400-33587000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:33579400-33587000	Weak transcription	Right Atrium	heart
6	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:33580000-33586800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:33580000-33587600	Weak transcription	Brain Substantia Nigra	brain
9	chr6:33581600-33588000	Weak transcription	Brain Anterior Caudate	brain
10	chr6:33581800-33586800	Weak transcription	A549	lung
11	chr6:33582000-33586800	Weak transcription	Colonic Mucosa	Colon
12	chr6:33582000-33587000	Weak transcription	Left Ventricle	heart
13	chr6:33582000-33587400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:33582000-33587400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:33582000-33587400	Weak transcription	NHLF	lung
16	chr6:33582200-33586800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:33582200-33587200	Enhancers	Hela-S3	cervix
18	chr6:33582200-33587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:33582400-33586800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:33582400-33586800	Weak transcription	Stomach Mucosa	stomach
21	chr6:33582400-33587000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:33582400-33587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:33582400-33587200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:33582400-33587200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:33582600-33586800	Weak transcription	Lung	lung
26	chr6:33583000-33587000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:33583000-33587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:33583000-33587000	Weak transcription	HSMMtube	muscle
29	chr6:33583200-33587000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:33583800-33587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:33584000-33587800	Enhancers	Fetal Intestine Small	intestine
32	chr6:33584400-33586800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:33585000-33587200	Weak transcription	K562	blood
34	chr6:33585200-33586800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:33585200-33587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr6:33585200-33587600	Weak transcription	Osteobl	bone
37	chr6:33585400-33587000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:33585400-33587200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:33585400-33587400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:33586000-33587200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:33586000-33587400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:33586000-33587600	Enhancers	HSMM	muscle
43	chr6:33586000-33588000	Enhancers	Spleen	Spleen
44	chr6:33586200-33587000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr6:33586200-33587000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:33586400-33587800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr6:33586600-33586800	Bivalent Enhancer	HepG2	liver
48	chr6:33586600-33587200	Enhancers	HUVEC	blood vessel
49	chr6:33586600-33587200	Enhancers	NHDF-Ad	bronchial
50	chr6:33586600-33587400	Enhancers	Dnd41	blood

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