Variant report

Variant	rs6968969
Chromosome Location	chr7:47692440-47692441
allele	A/G
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	STAT3	chr7:47692308-47692476	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr7:47692342-47694097	A549	lung:	n/a	chr7:47693338-47693347
3	POLR2A	chr7:47692305-47692809	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:47674185..47676514-chr7:47691065..47692861,2	MCF-7	breast:
2	chr7:47691927..47694720-chr7:47708904..47710828,2	MCF-7	breast:
3	chr7:47690491..47692702-chr7:47700621..47703207,2	MCF-7	breast:
4	chr7:47679338..47681929-chr7:47689941..47692555,2	MCF-7	breast:

Variant related genes	Relation type
C7orf65	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10951916	0.81[CHB][hapmap]
rs11761007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2347990	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34658417	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4720604	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4724605	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4724608	0.81[CHB][hapmap]
rs4724609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs921576	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47687200-47693200	Weak transcription	Left Ventricle	heart
2	chr7:47687200-47693600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:47687200-47695000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:47687400-47692600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:47687400-47693600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:47687600-47693200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:47688000-47693200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:47688000-47693200	Weak transcription	Right Atrium	heart
9	chr7:47688000-47693200	Weak transcription	Spleen	Spleen
10	chr7:47688200-47693400	Weak transcription	Fetal Kidney	kidney
11	chr7:47688800-47693400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:47688800-47694000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:47689000-47693200	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:47689000-47694000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:47689800-47694800	Enhancers	NH-A	brain
16	chr7:47690000-47695000	Enhancers	NHDF-Ad	bronchial
17	chr7:47690200-47693000	Enhancers	HSMM	muscle
18	chr7:47690400-47692600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:47690400-47692600	Enhancers	Aorta	Aorta
20	chr7:47690400-47693200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:47690400-47694800	Enhancers	NHLF	lung
22	chr7:47690600-47693400	Enhancers	Osteobl	bone
23	chr7:47690600-47695600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:47690800-47693400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:47691000-47693200	Enhancers	A549	lung
26	chr7:47691000-47693400	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:47691000-47693600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:47691200-47693200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:47691200-47693200	Weak transcription	Placenta	Placenta
30	chr7:47691600-47693200	Weak transcription	HUVEC	blood vessel
31	chr7:47691600-47693400	Weak transcription	HepG2	liver
32	chr7:47691600-47693400	Weak transcription	HMEC	breast
33	chr7:47691600-47694400	Weak transcription	Adipose Nuclei	Adipose
34	chr7:47691800-47693000	Weak transcription	Hela-S3	cervix
35	chr7:47691800-47693200	Weak transcription	Lung	lung
36	chr7:47691800-47693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:47691800-47693600	Weak transcription	NHEK	skin
38	chr7:47692000-47693000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:47692000-47693200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:47692200-47693200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:47692200-47693400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:47692200-47694600	Enhancers	HSMMtube	muscle
43	chr7:47692400-47693000	Weak transcription	Primary hematopoietic stem cells	blood

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