Variant report

Variant	rs7115883
Chromosome Location	chr11:102344923-102344924
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	RUNX3	chr11:102344812-102345874	GM12878	blood:	n/a	n/a
2	NFIC	chr11:102344878-102345756	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:102344422-102345794	Raji	blood:	n/a	n/a
4	MTA3	chr11:102344689-102345824	GM12878	blood:	n/a	n/a
5	RCOR1	chr11:102344815-102345671	GM12878	blood:	n/a	n/a
6	CREB1	chr11:102344908-102345786	GM12878	blood:	n/a	n/a
7	CHD2	chr11:102344717-102345763	GM12878	blood:	n/a	n/a
8	CREB1	chr11:102344897-102345775	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr11:102344921-102345767	GM12878	blood:	n/a	n/a
10	SMC3	chr11:102344895-102345683	GM12878	blood:	n/a	n/a
11	RELA	chr11:102344573-102345818	GM12891	blood:	n/a	n/a
12	RUNX3	chr11:102344712-102345879	GM12878	blood:	n/a	n/a
13	NFIC	chr11:102344915-102345796	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102323431..102326231-chr11:102344415..102346737,2	MCF-7	breast:

Variant related genes	Relation type
TMEM123	TF binding region
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11225270	1.00[ASN][1000 genomes]
rs12285267	1.00[ASN][1000 genomes]
rs12290827	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1943785	1.00[ASN][1000 genomes]
rs56189017	1.00[ASN][1000 genomes]
rs567670	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs61895434	1.00[ASN][1000 genomes]
rs61895452	1.00[ASN][1000 genomes]
rs61895454	1.00[ASN][1000 genomes]
rs61895455	1.00[ASN][1000 genomes]
rs61895456	1.00[ASN][1000 genomes]
rs7102547	1.00[CHB][hapmap]
rs72980254	1.00[ASN][1000 genomes]
rs938599	0.86[GIH][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102334800-102345600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr11:102338000-102347000	Weak transcription	Small Intestine	intestine
3	chr11:102339000-102345800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr11:102339000-102347400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:102339200-102345600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:102339800-102347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:102340600-102346800	Weak transcription	A549	lung
8	chr11:102340800-102345600	Weak transcription	Spleen	Spleen
9	chr11:102340800-102347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:102340800-102347200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:102340800-102347600	Weak transcription	Lung	lung
12	chr11:102341000-102346800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:102341000-102347400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:102341000-102359600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:102341200-102345400	Enhancers	Primary T cells from cord blood	blood
16	chr11:102341400-102345600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr11:102341800-102345000	Enhancers	Colon Smooth Muscle	Colon
18	chr11:102341800-102347200	Weak transcription	Dnd41	blood
19	chr11:102342000-102347000	Weak transcription	Thymus	Thymus
20	chr11:102342000-102347200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:102342000-102347400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:102342000-102347400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:102342000-102347400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:102342000-102347400	Weak transcription	Fetal Heart	heart
25	chr11:102342200-102345000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:102342400-102347000	Weak transcription	NHEK	skin
27	chr11:102342400-102347200	Weak transcription	Fetal Thymus	thymus
28	chr11:102342400-102347400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:102342400-102347400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:102342600-102346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:102342800-102345200	Enhancers	Hela-S3	cervix
32	chr11:102342800-102347000	Weak transcription	HMEC	breast
33	chr11:102342800-102347200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:102343000-102346200	Weak transcription	Liver	Liver
35	chr11:102343800-102345000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:102343800-102345000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:102344000-102345000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:102344000-102345000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr11:102344000-102345200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr11:102344000-102345200	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:102344000-102345400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:102344000-102345600	Enhancers	Stomach Mucosa	stomach
43	chr11:102344200-102345200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:102344200-102346000	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:102344400-102345000	Enhancers	Gastric	stomach
46	chr11:102344400-102345600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:102344400-102346200	Enhancers	Primary B cells from cord blood	blood
48	chr11:102344400-102346800	Enhancers	HepG2	liver
49	chr11:102344600-102345000	Enhancers	Colonic Mucosa	Colon
50	chr11:102344600-102345000	Flanking Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links