Variant report

Variant	rs353640
Chromosome Location	chr11:35183577-35183578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35183121..35185456-chr11:35188061..35190243,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2180974	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs353612	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs353613	0.92[AFR][1000 genomes]
rs353629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs353630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs353637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[ASN][1000 genomes]
rs353646	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]
rs353648	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]
rs3794105	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6484769	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	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:105 , 50 per page) page: 1 2 3

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	chr11:35167400-35185800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr11:35167600-35184200	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr11:35167600-35186200	Genic enhancers	NHDF-Ad	bronchial
5	chr11:35167600-35186400	Genic enhancers	HMEC	breast
6	chr11:35167800-35185800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:35172200-35196000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:35174400-35184000	Weak transcription	GM12878-XiMat	blood
9	chr11:35176600-35184000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:35177600-35191000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:35177800-35186600	Genic enhancers	Osteobl	bone
12	chr11:35179000-35186200	Genic enhancers	Hela-S3	cervix
13	chr11:35179000-35186400	Genic enhancers	NHLF	lung
14	chr11:35179200-35184400	Enhancers	Small Intestine	intestine
15	chr11:35179200-35185800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:35179400-35187200	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr11:35179600-35188000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:35179800-35184600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:35180400-35183800	Weak transcription	Brain Anterior Caudate	brain
20	chr11:35180600-35183600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:35180600-35183600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:35180600-35183600	Weak transcription	Esophagus	oesophagus
23	chr11:35180600-35184200	Weak transcription	Gastric	stomach
24	chr11:35180600-35184400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:35180600-35184800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:35180600-35186600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:35180600-35187800	Weak transcription	Lung	lung
28	chr11:35180600-35188000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:35180800-35183800	Weak transcription	Psoas Muscle	Psoas
30	chr11:35180800-35184000	Weak transcription	HUVEC	blood vessel
31	chr11:35180800-35184600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:35180800-35184800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:35180800-35185000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:35180800-35185000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:35180800-35185000	Weak transcription	Colonic Mucosa	Colon
36	chr11:35180800-35186200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:35180800-35186400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:35180800-35187800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:35180800-35189400	Weak transcription	Fetal Intestine Small	intestine
40	chr11:35181000-35184000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:35181000-35184800	Genic enhancers	NHEK	skin
42	chr11:35181000-35185000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:35181000-35186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:35181000-35187200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:35181000-35187600	Weak transcription	HSMMtube	muscle
46	chr11:35181200-35183600	Strong transcription	HSMM	muscle
47	chr11:35181200-35183800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:35181200-35184000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:35181200-35186200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:35181200-35186800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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