Variant report

Variant	rs2785180
Chromosome Location	chr11:35135908-35135909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35135157..35136854-chr11:35159646..35161211,2	MCF-7	breast:
2	chr11:35135735..35137455-chr11:35149991..35152217,2	K562	blood:

Variant related genes	Relation type
ENSG00000026508	Chromatin interaction
ENSG00000269766	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2250466	0.89[EUR][1000 genomes]
rs2553810	0.81[EUR][1000 genomes]
rs2553812	0.89[EUR][1000 genomes]
rs2553813	0.89[EUR][1000 genomes]
rs2553817	0.86[EUR][1000 genomes]
rs2732568	0.85[EUR][1000 genomes]
rs2732578	0.86[EUR][1000 genomes]
rs2732579	0.86[EUR][1000 genomes]
rs2785174	0.81[EUR][1000 genomes]
rs2785175	0.81[EUR][1000 genomes]
rs2785176	0.89[EUR][1000 genomes]
rs353577	0.80[EUR][1000 genomes]
rs3736812	1.00[LWK][hapmap]
rs4756191	0.89[EUR][1000 genomes]
rs56299057	0.94[EUR][1000 genomes]
rs61881594	0.94[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:53 , 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	chr11:35133200-35136200	Weak transcription	Dnd41	blood
5	chr11:35133200-35138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:35133200-35138400	Weak transcription	Small Intestine	intestine
7	chr11:35133400-35137000	Weak transcription	A549	lung
8	chr11:35133400-35137200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:35133400-35137800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:35133400-35137800	Weak transcription	Left Ventricle	heart
11	chr11:35133400-35138200	Weak transcription	Right Ventricle	heart
12	chr11:35133400-35138400	Weak transcription	Colonic Mucosa	Colon
13	chr11:35133400-35144000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:35133600-35137200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:35133600-35137200	Weak transcription	Placenta	Placenta
16	chr11:35133600-35137200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:35133600-35137200	Weak transcription	NHLF	lung
18	chr11:35133600-35138000	Weak transcription	Right Atrium	heart
19	chr11:35133600-35138200	Weak transcription	Adipose Nuclei	Adipose
20	chr11:35133600-35142200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:35133800-35136400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:35133800-35138200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:35133800-35138200	Weak transcription	NHDF-Ad	bronchial
24	chr11:35133800-35142600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:35134000-35136400	Weak transcription	Esophagus	oesophagus
26	chr11:35134000-35136800	Weak transcription	Fetal Thymus	thymus
27	chr11:35134000-35137000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:35134000-35137000	Weak transcription	HSMMtube	muscle
29	chr11:35134000-35137200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:35134000-35137800	Weak transcription	Pancreas	Pancrea
31	chr11:35134000-35137800	Weak transcription	NH-A	brain
32	chr11:35134000-35138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:35134000-35138400	Weak transcription	Spleen	Spleen
34	chr11:35134000-35142400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:35134000-35142600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:35134000-35142600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:35134200-35136600	Weak transcription	Gastric	stomach
38	chr11:35134200-35136600	Weak transcription	HSMM	muscle
39	chr11:35134200-35137400	Weak transcription	Osteobl	bone
40	chr11:35134600-35137800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:35134600-35138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:35134600-35138400	Weak transcription	Lung	lung
43	chr11:35134800-35136200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:35134800-35139000	Enhancers	HMEC	breast
45	chr11:35135000-35136600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:35135200-35136200	Weak transcription	NHEK	skin
47	chr11:35135600-35137000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:35135600-35138200	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:35135600-35141400	Enhancers	Primary B cells from cord blood	blood
50	chr11:35135800-35136000	Enhancers	Colon Smooth Muscle	Colon

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