Variant report

Variant	rs6963343
Chromosome Location	chr7:112089060-112089061
allele	G/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	SMARCC2	chr7:112088921-112091774	Hela-S3	cervix:	n/a	chr7:112089546-112089555 chr7:112090912-112090921 chr7:112089565-112089574 chr7:112090975-112090984 chr7:112089547-112089556
2	FOS	chr7:112088931-112089826	MCF10A-Er-Src	breast:	n/a	chr7:112089564-112089575 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089545-112089556
3	SMARCC1	chr7:112088983-112091606	Hela-S3	cervix:	n/a	chr7:112089546-112089555 chr7:112090912-112090921 chr7:112089565-112089574 chr7:112090975-112090984 chr7:112089547-112089556
4	FOS	chr7:112088968-112089801	MCF10A-Er-Src	breast:	n/a	chr7:112089564-112089575 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089545-112089556

No.	Distal block	Cell Line	Cell type
1	chr7:112088993..112091963-chr7:112126130..112127853,2	K562	blood:
2	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
3	chr7:112088811..112094041-chr7:112100770..112110657,18	MCF-7	breast:
4	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
5	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
6	chr7:111988628..111990958-chr7:112088614..112090854,2	MCF-7	breast:
7	chr7:111844189..111846735-chr7:112088922..112092289,7	K562	blood:
8	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
9	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
10	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
11	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
12	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000180019	TF binding region
ENSG00000128512	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000198839	Chromatin interaction
ENSG00000181016	Chromatin interaction
ENSG00000146802	Chromatin interaction
ENSG00000226851	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1005659	0.86[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]
rs1005661	0.86[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]
rs1024568	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs1024570	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1024572	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1029631	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs10500007	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953713	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs11764489	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12531101	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12531636	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12539263	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs1468458	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs17159684	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17159686	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2396541	0.81[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2396542	0.89[EUR][1000 genomes]
rs3095035	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3807210	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3807213	0.86[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]
rs4275157	0.86[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs4727771	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4730548	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4730549	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55954386	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56020731	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6944364	0.86[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs6945176	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6967593	0.86[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs6967894	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6968084	0.81[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73201469	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7455170	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7777925	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7817	0.86[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
2	chr7:112075800-112089800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:112083600-112089600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:112083800-112090000	Weak transcription	Gastric	stomach
5	chr7:112084600-112089400	Weak transcription	GM12878-XiMat	blood
6	chr7:112086200-112089600	Enhancers	Primary B cells from cord blood	blood
7	chr7:112086400-112089600	Enhancers	Fetal Intestine Small	intestine
8	chr7:112087000-112089400	Weak transcription	K562	blood
9	chr7:112087000-112089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:112087000-112089800	Weak transcription	Small Intestine	intestine
11	chr7:112087000-112090000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:112087200-112089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:112087600-112089200	Enhancers	Pancreas	Pancrea
14	chr7:112088000-112089200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:112088000-112089600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:112088000-112089800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:112088200-112089400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:112088200-112089600	Enhancers	HMEC	breast
19	chr7:112088400-112089200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:112088400-112089400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:112088400-112089800	Enhancers	Fetal Thymus	thymus
22	chr7:112088400-112089800	Enhancers	HSMMtube	muscle
23	chr7:112088400-112090200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr7:112088600-112089200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:112088600-112089200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr7:112088600-112089400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:112088600-112089400	Enhancers	Brain Angular Gyrus	brain
28	chr7:112088600-112089600	Enhancers	Fetal Intestine Large	intestine
29	chr7:112088600-112089800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:112088600-112089800	Enhancers	Colonic Mucosa	Colon
31	chr7:112088600-112090000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr7:112088800-112089200	Enhancers	Esophagus	oesophagus
33	chr7:112088800-112089400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:112088800-112089400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:112088800-112089400	Enhancers	Fetal Kidney	kidney
36	chr7:112088800-112089400	Enhancers	Hela-S3	cervix
37	chr7:112088800-112089600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:112088800-112089600	Enhancers	Stomach Mucosa	stomach
39	chr7:112088800-112089600	Enhancers	HepG2	liver
40	chr7:112088800-112089800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:112089000-112089200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:112089000-112089400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr7:112089000-112089400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:112089000-112089400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:112089000-112089400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:112089000-112089400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr7:112089000-112089400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:112089000-112089400	Enhancers	A549	lung
49	chr7:112089000-112089600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:112089000-112089600	Enhancers	Muscle Satellite Cultured Cells	--

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