Variant report

Variant	rs571298384
Chromosome Location	chr2:87064288-87064289
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	chr2:87053953..87055906-chr2:87062095..87066104,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv532319	chr2:87024867-88005418	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
14	esv1800069	chr2:87056027-87885905	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
15	nsv961428	chr2:87063936-87093055	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87053400-87066600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:87055400-87072600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:87056000-87066600	Enhancers	Fetal Thymus	thymus
4	chr2:87058600-87065800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:87059200-87066600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:87060400-87066800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:87060600-87069400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:87061000-87066600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:87063200-87064400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:87063800-87064400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:87063800-87064400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:87063800-87064400	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:87063800-87064400	Enhancers	Stomach Mucosa	stomach
14	chr2:87063800-87064400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:87063800-87064600	Enhancers	Primary T cells from cord blood	blood
16	chr2:87063800-87064600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:87063800-87065200	Flanking Active TSS	Dnd41	blood
18	chr2:87063800-87065800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:87063800-87066000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:87064000-87064400	Enhancers	Adipose Nuclei	Adipose
21	chr2:87064000-87064400	Enhancers	Fetal Intestine Large	intestine
22	chr2:87064000-87064600	Enhancers	NHEK	skin
23	chr2:87064000-87064800	Active TSS	Stomach Smooth Muscle	stomach
24	chr2:87064000-87065200	Enhancers	Placenta	Placenta
25	chr2:87064000-87065200	Enhancers	HMEC	breast
26	chr2:87064000-87065400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:87064200-87064400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:87064200-87064400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:87064200-87064400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:87064200-87064400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:87064200-87064400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:87064200-87064400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:87064200-87064400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:87064200-87064400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:87064200-87064400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:87064200-87064400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:87064200-87064400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:87064200-87064400	Flanking Active TSS	A549	lung
39	chr2:87064200-87064400	Flanking Active TSS	Hela-S3	cervix
40	chr2:87064200-87064400	Flanking Active TSS	NH-A	brain
41	chr2:87064200-87064600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:87064200-87064600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:87064200-87064600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr2:87064200-87064600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:87064200-87064600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:87064200-87064600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:87064200-87064600	Active TSS	Thymus	Thymus
48	chr2:87064200-87064600	Enhancers	HUVEC	blood vessel
49	chr2:87064200-87064600	Active TSS	NHDF-Ad	bronchial
50	chr2:87064200-87064600	Active TSS	Osteobl	bone

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