Variant report

Variant	rs7937101
Chromosome Location	chr11:47226488-47226489
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	MYC	chr11:47226145-47226492	MCF10A-Er-Src	breast:	n/a	chr11:47226313-47226322
2	STAT3	chr11:47226226-47226493	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:47226063-47226525	MCF10A-Er-Src	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
4	NFIC	chr11:47225939-47226633	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr11:47225721-47226649	MCF-7	breast:	n/a	chr11:47226059-47226076 chr11:47226068-47226077
6	FOS	chr11:47226122-47226525	MCF10A-Er-Src	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
7	USF1	chr11:47226143-47226510	SK-N-SH	brain:	n/a	n/a
8	MYC	chr11:47226140-47226500	MCF10A-Er-Src	breast:	n/a	chr11:47226313-47226322
9	TEAD4	chr11:47225823-47226525	K562	blood:	n/a	n/a
10	FOS	chr11:47226063-47226548	MCF10A-Er-Src	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
11	FOSL2	chr11:47226166-47226628	MCF-7	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
12	FOSL2	chr11:47226007-47226638	SK-N-SH	brain:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
13	JUND	chr11:47226060-47226688	SK-N-SH	brain:	n/a	chr11:47226314-47226323 chr11:47226313-47226322 chr11:47226312-47226323
14	GATA3	chr11:47225852-47226674	SK-N-SH	brain:	n/a	chr11:47226059-47226076 chr11:47226068-47226077
15	FOS	chr11:47226073-47226506	MCF10A-Er-Src	breast:	n/a	chr11:47226314-47226323 chr11:47226313-47226322
16	CEBPB	chr11:47226237-47226568	IMR90	lung:	n/a	n/a
17	GATA3	chr11:47225687-47226588	MCF-7	breast:	n/a	chr11:47226059-47226076 chr11:47226068-47226077
18	GATA1	chr11:47225770-47226697	K562	blood:	n/a	chr11:47226059-47226076 chr11:47226068-47226077

No.	Distal block	Cell Line	Cell type
1	chr11:47223065..47227984-chr11:47233675..47238356,6	MCF-7	breast:
2	chr11:47205640..47208812-chr11:47225906..47229370,3	MCF-7	breast:
3	chr11:47211780..47213676-chr11:47225698..47227391,2	MCF-7	breast:
4	chr11:47203683..47208496-chr11:47223862..47228000,5	MCF-7	breast:
5	chr11:47219819..47221860-chr11:47224771..47227015,2	MCF-7	breast:
6	chr11:47226100..47227743-chr11:47235838..47237503,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL772P	TF binding region
ENSG00000243802	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000134574	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10466478	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10501319	0.84[GIH][hapmap]
rs1055447	0.80[CHD][hapmap];0.84[GIH][hapmap];0.84[ASN][1000 genomes]
rs1060573	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10742797	0.83[CHB][hapmap]
rs10769233	0.80[ASN][1000 genomes]
rs10769234	0.94[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs10769239	0.84[ASN][1000 genomes]
rs10838644	0.81[GIH][hapmap]
rs10838652	0.81[GIH][hapmap]
rs10838654	0.83[ASN][1000 genomes]
rs10838659	0.88[ASN][1000 genomes]
rs10838660	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10838662	0.84[GIH][hapmap]
rs10838664	0.80[CHD][hapmap];0.89[GIH][hapmap]
rs10838681	0.86[CHD][hapmap]
rs11039074	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs11039086	0.84[ASN][1000 genomes]
rs11039097	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.85[ASN][1000 genomes]
rs11039105	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039107	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039112	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11039119	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039124	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039134	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11600668	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11601798	0.80[CHB][hapmap]
rs12224096	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12291341	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417519	0.81[GIH][hapmap]
rs12574410	0.81[CHB][hapmap]
rs12796744	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12807887	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1872896	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1965952	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1976142	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1976143	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2018527	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2029298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2087215	0.84[GIH][hapmap]
rs2279439	0.89[GIH][hapmap]
rs4237547	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319472	0.95[CEU][hapmap];0.85[ASN][1000 genomes]
rs4567413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579897	0.81[ASN][1000 genomes]
rs4587689	0.81[GIH][hapmap]
rs4752952	0.81[ASN][1000 genomes]
rs4752957	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.85[ASN][1000 genomes]
rs4752962	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs4752963	0.86[ASN][1000 genomes]
rs4752967	0.95[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752969	0.84[GIH][hapmap]
rs4752971	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57323109	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6485726	0.81[GIH][hapmap]
rs6485739	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.86[ASN][1000 genomes]
rs7103581	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.80[ASN][1000 genomes]
rs7108902	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.80[ASN][1000 genomes]
rs7111764	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112854	0.81[GIH][hapmap]
rs7119952	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7121418	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7124648	0.81[GIH][hapmap]
rs7125807	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs7126005	0.81[GIH][hapmap]
rs7128650	0.81[GIH][hapmap]
rs7130006	0.80[CHD][hapmap];0.86[GIH][hapmap]
rs747650	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7479189	0.95[CEU][hapmap];0.81[ASN][1000 genomes]
rs7931260	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap]
rs7937410	0.80[CHD][hapmap];0.89[GIH][hapmap]
rs7937950	0.83[ASN][1000 genomes]
rs7940240	0.80[CHD][hapmap];0.89[GIH][hapmap]
rs7942473	0.85[ASN][1000 genomes]
rs7945315	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.85[ASN][1000 genomes]
rs7946709	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.83[ASN][1000 genomes]
rs7950753	0.81[GIH][hapmap]
rs9633886	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7937101	DDB2	cis	Skin Sun Exposed Lower leg	GTEx
rs7937101	NUP160	cis	cerebellum	SCAN
rs7937101	ACP2	cis	lymphoblastoid	seeQTL
rs7937101	C11orf49	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47224400-47230200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:47225600-47226800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:47225600-47227200	Enhancers	HMEC	breast
4	chr11:47225600-47227200	Enhancers	Osteobl	bone
5	chr11:47225800-47226600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:47225800-47226600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:47225800-47226600	Enhancers	Stomach Smooth Muscle	stomach
8	chr11:47225800-47226600	Enhancers	A549	lung
9	chr11:47225800-47226600	Enhancers	NHDF-Ad	bronchial
10	chr11:47225800-47226800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:47225800-47226800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:47225800-47226800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:47225800-47226800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:47225800-47227000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:47225800-47227000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:47225800-47227200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:47225800-47227200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:47225800-47227200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:47226000-47226600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:47226000-47226600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr11:47226000-47226600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:47226000-47226600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:47226000-47226600	Enhancers	Adipose Nuclei	Adipose
24	chr11:47226000-47226600	Enhancers	HepG2	liver
25	chr11:47226000-47226600	Enhancers	NH-A	brain
26	chr11:47226000-47226600	Enhancers	NHLF	lung
27	chr11:47226000-47227000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:47226000-47227000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:47226200-47226600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:47226200-47226600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:47226200-47226600	Flanking Active TSS	NHEK	skin
32	chr11:47226200-47226800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:47226200-47226800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:47226400-47226600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:47226400-47226600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:47226400-47226600	Enhancers	Placenta	Placenta
37	chr11:47226400-47226600	Flanking Active TSS	Hela-S3	cervix
38	chr11:47226400-47227000	Enhancers	Esophagus	oesophagus
39	chr11:47226400-47235800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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