Variant report

Variant	rs2250466
Chromosome Location	chr11:35137914-35137915
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35137747..35140053-chr11:35157394..35160229,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255521	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1425802	0.90[CHB][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2039619	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2042679	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553810	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2553812	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553813	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553817	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2732568	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2732572	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2732573	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2732578	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2732579	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2785174	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2785175	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2785176	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2785178	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2785180	0.89[EUR][1000 genomes]
rs353561	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353563	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353565	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353566	0.91[CEU][hapmap]
rs353571	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs353573	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs353574	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs353577	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353579	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353580	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs398734	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs4756191	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs497335	0.81[EUR][1000 genomes]
rs56299057	0.84[EUR][1000 genomes]
rs61881594	0.84[EUR][1000 genomes]
rs626524	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs866292	0.88[AMR][1000 genomes];0.89[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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35131000-35139400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:35132600-35139600	Enhancers	Fetal Stomach	stomach
3	chr11:35133000-35138200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:35133200-35138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:35133200-35138400	Weak transcription	Small Intestine	intestine
6	chr11:35133400-35138200	Weak transcription	Right Ventricle	heart
7	chr11:35133400-35138400	Weak transcription	Colonic Mucosa	Colon
8	chr11:35133400-35144000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:35133600-35138000	Weak transcription	Right Atrium	heart
10	chr11:35133600-35138200	Weak transcription	Adipose Nuclei	Adipose
11	chr11:35133600-35142200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:35133800-35138200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:35133800-35138200	Weak transcription	NHDF-Ad	bronchial
14	chr11:35133800-35142600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:35134000-35138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:35134000-35138400	Weak transcription	Spleen	Spleen
17	chr11:35134000-35142400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:35134000-35142600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:35134000-35142600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:35134600-35138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:35134600-35138400	Weak transcription	Lung	lung
22	chr11:35134800-35139000	Enhancers	HMEC	breast
23	chr11:35135600-35138200	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:35135600-35141400	Enhancers	Primary B cells from cord blood	blood
25	chr11:35135800-35138000	Enhancers	Stomach Smooth Muscle	stomach
26	chr11:35136200-35138800	Enhancers	Dnd41	blood
27	chr11:35136400-35138600	Enhancers	Esophagus	oesophagus
28	chr11:35136400-35140200	Enhancers	Fetal Muscle Leg	muscle
29	chr11:35136600-35138000	Flanking Active TSS	NHEK	skin
30	chr11:35136600-35139400	Enhancers	HSMM	muscle
31	chr11:35136600-35139600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:35136800-35139400	Enhancers	Fetal Thymus	thymus
33	chr11:35136800-35140200	Enhancers	GM12878-XiMat	blood
34	chr11:35137000-35138400	Enhancers	A549	lung
35	chr11:35137000-35139200	Enhancers	HSMMtube	muscle
36	chr11:35137000-35139400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr11:35137200-35138600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:35137200-35138600	Enhancers	NHLF	lung
39	chr11:35137200-35138800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr11:35137200-35138800	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:35137200-35138800	Enhancers	Placenta	Placenta
42	chr11:35137200-35139200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:35137200-35139400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:35137400-35138800	Enhancers	Osteobl	bone
45	chr11:35137400-35139600	Enhancers	Rectal Smooth Muscle	rectum
46	chr11:35137600-35138800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:35137600-35139200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:35137800-35138400	Enhancers	Stomach Mucosa	stomach
49	chr11:35137800-35138400	Enhancers	NH-A	brain
50	chr11:35137800-35138600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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