Variant report

Variant	rs353620
Chromosome Location	chr11:35174136-35174137
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	chr11:35172301..35174738-chr11:35189496..35192114,2	MCF-7	breast:
2	chr11:35163163..35167316-chr11:35171190..35174236,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs187115	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353615	0.86[GIH][hapmap];0.83[MKK][hapmap]
rs353618	0.94[ASW][hapmap];0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs353621	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353622	0.87[EUR][1000 genomes]
rs353623	0.94[ASW][hapmap];0.87[EUR][1000 genomes]
rs353624	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs353620	WT1	cis	parietal	SCAN
rs353620	TCP11L1	cis	cerebellum	SCAN
rs353620	RAG1	cis	cerebellum	SCAN

Chromatin state (count:98 , 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	chr11:35163400-35178400	Weak transcription	Psoas Muscle	Psoas
3	chr11:35163800-35183400	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr11:35166000-35175000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:35166600-35179000	Weak transcription	HUVEC	blood vessel
6	chr11:35167000-35174800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:35167200-35179400	Weak transcription	Right Ventricle	heart
8	chr11:35167200-35179800	Weak transcription	Fetal Lung	lung
9	chr11:35167400-35179200	Weak transcription	Colonic Mucosa	Colon
10	chr11:35167400-35179200	Weak transcription	Gastric	stomach
11	chr11:35167400-35185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:35167600-35179200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:35167600-35184200	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr11:35167600-35186200	Genic enhancers	NHDF-Ad	bronchial
15	chr11:35167600-35186400	Genic enhancers	HMEC	breast
16	chr11:35167800-35178800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:35167800-35185800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:35168000-35175400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:35168000-35176400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:35168200-35179200	Genic enhancers	NHEK	skin
21	chr11:35168800-35179000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr11:35169000-35179200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:35169000-35179400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:35169200-35175200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr11:35169200-35175600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:35169200-35179600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:35169800-35179200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:35170600-35174600	Genic enhancers	A549	lung
29	chr11:35170600-35177200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:35170800-35174200	Genic enhancers	Stomach Smooth Muscle	stomach
31	chr11:35170800-35176800	Genic enhancers	NHLF	lung
32	chr11:35171000-35176600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:35171200-35174600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:35171200-35179400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:35171400-35175400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:35171800-35176600	Strong transcription	Primary B cells from cord blood	blood
37	chr11:35172000-35177000	Genic enhancers	Hela-S3	cervix
38	chr11:35172200-35174400	Enhancers	Small Intestine	intestine
39	chr11:35172200-35174600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:35172200-35174600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:35172200-35176000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:35172200-35176600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:35172200-35179000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:35172200-35196000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:35172400-35174200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:35172400-35174200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:35172400-35174400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr11:35172400-35179400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:35172600-35174400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:35172600-35174800	Enhancers	Placenta	Placenta

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