Variant report

Variant	rs530335098
Chromosome Location	chr11:67331422-67331423
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	chr11:67330448..67332592-chr11:67370331..67373088,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255119	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv3470896	chr11:67329714-67332724	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3470907	chr11:67329918-67332593	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3470918	chr11:67329918-67332593	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv12338	chr11:67330357-67332003	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv555262	chr11:67330496-67331526	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv555263	chr11:67330496-67331635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv555264	chr11:67330496-67331740	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv555266	chr11:67330778-67331846	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv555267	chr11:67330882-67331916	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67325600-67331600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:67326400-67332200	Enhancers	Fetal Intestine Large	intestine
3	chr11:67326600-67332200	Enhancers	Fetal Intestine Small	intestine
4	chr11:67328600-67333800	Enhancers	Placenta	Placenta
5	chr11:67329000-67332200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:67329400-67332000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:67329400-67332000	Enhancers	Fetal Heart	heart
8	chr11:67329800-67332000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:67329800-67332000	Enhancers	K562	blood
10	chr11:67329800-67332200	Enhancers	NHEK	skin
11	chr11:67330000-67331600	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:67330000-67332000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr11:67330200-67332200	Enhancers	HUVEC	blood vessel
14	chr11:67330200-67332600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:67330400-67331800	Enhancers	Psoas Muscle	Psoas
16	chr11:67330400-67332000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:67330400-67332000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:67330400-67332000	Enhancers	HSMM	muscle
19	chr11:67330400-67332000	Enhancers	HSMMtube	muscle
20	chr11:67330400-67332200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:67330400-67332200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:67330400-67332200	Enhancers	Osteobl	bone
23	chr11:67330600-67331600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:67330600-67331800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:67330600-67332000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:67330600-67332000	Enhancers	Fetal Muscle Leg	muscle
27	chr11:67330600-67332000	Enhancers	Stomach Mucosa	stomach
28	chr11:67330600-67332200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:67330600-67332200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:67330800-67331800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:67330800-67331800	Enhancers	Colon Smooth Muscle	Colon
32	chr11:67330800-67331800	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:67330800-67331800	Enhancers	Ovary	ovary
34	chr11:67330800-67331800	Enhancers	Right Atrium	heart
35	chr11:67330800-67332000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:67330800-67332000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:67330800-67332000	Flanking Active TSS	Hela-S3	cervix
38	chr11:67330800-67332000	Enhancers	HMEC	breast
39	chr11:67330800-67332200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:67330800-67332200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:67331000-67331600	Enhancers	Pancreas	Pancrea
42	chr11:67331000-67331800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:67331000-67331800	Enhancers	Adipose Nuclei	Adipose
44	chr11:67331200-67331600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:67331200-67331600	Weak transcription	Right Ventricle	heart
46	chr11:67331200-67331600	Enhancers	NH-A	brain
47	chr11:67331200-67332000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:67331200-67332000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:67331400-67331600	Enhancers	A549	lung
50	chr11:67331400-67332000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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