Variant report

Variant	rs2402934
Chromosome Location	chr7:128376037-128376038
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	MAFF	chr7:128375958-128376125	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:128374951-128379140	K562	blood:	n/a	n/a
3	FOS	chr7:128375967-128376167	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr7:128375426-128376066	PFSK-1	brain:	n/a	n/a
5	FOS	chr7:128376033-128376173	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr7:128375880-128376090	HEEpiC	esophagus:	n/a	n/a
7	FOS	chr7:128375928-128376279	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr7:128375928-128376230	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128354778..128357384-chr7:128375264..128377980,2	MCF-7	breast:
2	chr7:128335112..128337902-chr7:128374655..128377601,2	K562	blood:
3	chr7:128372524..128376128-chr7:128376580..128381119,6	MCF-7	breast:

Variant related genes	Relation type
CALU	TF binding region
ENSG00000252866	Chromatin interaction
ENSG00000135248	Chromatin interaction
ENSG00000128595	Chromatin interaction
ENSG00000201041	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17164371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2402933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339057	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs339059	0.81[CHB][hapmap]
rs339061	0.81[CHB][hapmap]
rs7780294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:128361600-128378600	Weak transcription	Right Atrium	heart
5	chr7:128369200-128377800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:128369400-128377800	Weak transcription	HMEC	breast
7	chr7:128370400-128378200	Weak transcription	Spleen	Spleen
8	chr7:128370600-128377600	Weak transcription	HSMMtube	muscle
9	chr7:128371000-128378200	Enhancers	K562	blood
10	chr7:128373200-128377400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:128373200-128378800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:128374000-128377800	Weak transcription	HUVEC	blood vessel
13	chr7:128374000-128378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:128374400-128377000	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:128374600-128376200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:128374600-128376600	Enhancers	Primary B cells from cord blood	blood
17	chr7:128374800-128376200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:128375000-128376200	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:128375000-128376200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:128375200-128376400	Enhancers	Fetal Muscle Leg	muscle
21	chr7:128375400-128378600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:128375800-128376200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:128375800-128376200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr7:128375800-128376200	Enhancers	NHEK	skin
25	chr7:128375800-128376400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:128375800-128378600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:128376000-128376200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:128376000-128376200	Enhancers	Fetal Kidney	kidney
29	chr7:128376000-128377400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:128376000-128377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:128376000-128378600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links