Variant report

Variant	rs353646
Chromosome Location	chr11:35192114-35192115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35184295..35186190-chr11:35191742..35193747,2	MCF-7	breast:
2	chr11:35172301..35174738-chr11:35189496..35192114,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2180974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353612	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs353613	0.83[ASN][1000 genomes]
rs353629	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs353630	0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs353637	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs353640	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs353643	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs353648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794105	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[MEX][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6484769	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	esv3693078	chr11:35179651-35217745	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35161200-35197400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr11:35172200-35196000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:35185600-35194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:35186600-35194600	Weak transcription	Gastric	stomach
5	chr11:35186800-35193000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:35187400-35192800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr11:35187800-35200800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:35188200-35194600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:35188200-35196600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:35188400-35194600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:35188400-35197000	Enhancers	Fetal Thymus	thymus
12	chr11:35188600-35192200	Genic enhancers	HMEC	breast
13	chr11:35188600-35192600	Enhancers	Adipose Nuclei	Adipose
14	chr11:35188600-35192600	Enhancers	Colon Smooth Muscle	Colon
15	chr11:35188600-35194600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:35188600-35195200	Weak transcription	Colonic Mucosa	Colon
17	chr11:35188600-35197000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:35188800-35196800	Genic enhancers	NHEK	skin
19	chr11:35189000-35196200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:35189000-35197200	Genic enhancers	NHDF-Ad	bronchial
21	chr11:35189200-35192400	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr11:35189200-35193000	Genic enhancers	A549	lung
23	chr11:35189200-35194600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:35189400-35192600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:35189400-35194000	Genic enhancers	NHLF	lung
26	chr11:35189400-35196000	Genic enhancers	Osteobl	bone
27	chr11:35189400-35197200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:35189400-35213800	Weak transcription	Right Ventricle	heart
29	chr11:35189400-35218800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:35189600-35193000	Genic enhancers	Hela-S3	cervix
31	chr11:35189600-35194600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:35189600-35194600	Weak transcription	HUVEC	blood vessel
33	chr11:35189600-35195600	Weak transcription	Pancreas	Pancrea
34	chr11:35189600-35198200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:35189600-35204800	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:35189800-35193000	Enhancers	Aorta	Aorta
37	chr11:35189800-35193400	Genic enhancers	Monocytes-CD14+_RO01746	blood
38	chr11:35190200-35192600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:35190200-35193000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:35190200-35193200	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr11:35190200-35193600	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:35190200-35196400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:35190200-35200000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:35190200-35204400	Weak transcription	Brain Substantia Nigra	brain
45	chr11:35190400-35192600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:35190400-35192800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:35190400-35194000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:35190400-35195800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:35190400-35196400	Weak transcription	HSMMtube	muscle
50	chr11:35190400-35198200	Weak transcription	Left Ventricle	heart

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