Variant report

Variant	rs13029215
Chromosome Location	chr2:62700692-62700693
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	chr2:62695278..62697363-chr2:62699071..62703066,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34088150	1.00[ASN][1000 genomes]
rs34950625	1.00[ASN][1000 genomes]
rs62178011	1.00[ASN][1000 genomes]
rs62178013	1.00[ASN][1000 genomes]
rs62178014	1.00[ASN][1000 genomes]
rs62178019	1.00[ASN][1000 genomes]
rs72805586	1.00[ASN][1000 genomes]
rs7425836	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv2751	chr2:62691264-62737131	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62684800-62700800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:62693400-62702200	Enhancers	Adipose Nuclei	Adipose
3	chr2:62694800-62702200	Weak transcription	Right Ventricle	heart
4	chr2:62695400-62701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:62695400-62701200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:62695400-62701600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:62695400-62702200	Weak transcription	Lung	lung
8	chr2:62695600-62701600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:62695800-62702200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:62695800-62702200	Weak transcription	NHEK	skin
11	chr2:62696000-62701400	Weak transcription	HMEC	breast
12	chr2:62696000-62702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:62696200-62701200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:62696200-62701600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:62696600-62701000	Enhancers	Fetal Thymus	thymus
16	chr2:62696600-62701200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:62696600-62702200	Enhancers	Fetal Muscle Leg	muscle
18	chr2:62696600-62705800	Enhancers	Fetal Stomach	stomach
19	chr2:62696800-62701200	Enhancers	Ovary	ovary
20	chr2:62696800-62701600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:62697000-62701800	Weak transcription	Psoas Muscle	Psoas
22	chr2:62697800-62701400	Weak transcription	Fetal Heart	heart
23	chr2:62697800-62701800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:62697800-62702400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:62698200-62702200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:62698800-62701200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:62698800-62701400	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:62698800-62702200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:62698800-62702200	Enhancers	NHDF-Ad	bronchial
30	chr2:62698800-62702400	Enhancers	Brain Angular Gyrus	brain
31	chr2:62699000-62701000	Enhancers	HSMMtube	muscle
32	chr2:62699000-62701200	Enhancers	Fetal Lung	lung
33	chr2:62699000-62702000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:62699000-62702200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:62699200-62705400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:62699400-62701800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:62699400-62702000	Enhancers	Brain Hippocampus Middle	brain
38	chr2:62699400-62702000	Enhancers	Colon Smooth Muscle	Colon
39	chr2:62699400-62705800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:62699600-62702200	Weak transcription	Left Ventricle	heart
41	chr2:62699600-62702600	Enhancers	HepG2	liver
42	chr2:62699600-62705800	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:62699800-62700800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:62699800-62701200	Enhancers	Right Atrium	heart
45	chr2:62699800-62701400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:62699800-62701800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:62699800-62702200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:62699800-62705200	Weak transcription	NHLF	lung
49	chr2:62700000-62700800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:62700000-62700800	Weak transcription	Fetal Intestine Small	intestine

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