Variant report

Variant	rs34088150
Chromosome Location	chr2:62701750-62701751
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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13029215	1.00[ASN][1000 genomes]
rs34950625	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62177986	1.00[AFR][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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62693400-62702200	Enhancers	Adipose Nuclei	Adipose
2	chr2:62694800-62702200	Weak transcription	Right Ventricle	heart
3	chr2:62695400-62702200	Weak transcription	Lung	lung
4	chr2:62695800-62702200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:62695800-62702200	Weak transcription	NHEK	skin
6	chr2:62696000-62702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:62696600-62702200	Enhancers	Fetal Muscle Leg	muscle
8	chr2:62696600-62705800	Enhancers	Fetal Stomach	stomach
9	chr2:62697000-62701800	Weak transcription	Psoas Muscle	Psoas
10	chr2:62697800-62701800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:62697800-62702400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:62698200-62702200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:62698800-62702200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:62698800-62702200	Enhancers	NHDF-Ad	bronchial
15	chr2:62698800-62702400	Enhancers	Brain Angular Gyrus	brain
16	chr2:62699000-62702000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:62699000-62702200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:62699200-62705400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:62699400-62701800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:62699400-62702000	Enhancers	Brain Hippocampus Middle	brain
21	chr2:62699400-62702000	Enhancers	Colon Smooth Muscle	Colon
22	chr2:62699400-62705800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:62699600-62702200	Weak transcription	Left Ventricle	heart
24	chr2:62699600-62702600	Enhancers	HepG2	liver
25	chr2:62699600-62705800	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:62699800-62701800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:62699800-62702200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:62699800-62705200	Weak transcription	NHLF	lung
29	chr2:62700000-62702000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:62700000-62702200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:62700200-62701800	Enhancers	HSMM	muscle
32	chr2:62700400-62702400	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:62700400-62703600	Enhancers	Liver	Liver
34	chr2:62700400-62705600	Enhancers	Placenta	Placenta
35	chr2:62700600-62702400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:62700600-62703600	Enhancers	Spleen	Spleen
37	chr2:62700800-62702200	Enhancers	Brain Anterior Caudate	brain
38	chr2:62700800-62702200	Weak transcription	Pancreas	Pancrea
39	chr2:62700800-62702600	Enhancers	Fetal Intestine Small	intestine
40	chr2:62700800-62703600	Enhancers	Fetal Brain Male	brain
41	chr2:62700800-62705600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:62700800-62705800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:62701000-62702000	Weak transcription	Fetal Thymus	thymus
44	chr2:62701000-62702600	Weak transcription	Fetal Intestine Large	intestine
45	chr2:62701000-62703600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:62701200-62701800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:62701200-62701800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:62701200-62702000	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:62701200-62702000	Enhancers	Brain Substantia Nigra	brain
50	chr2:62701200-62702000	Enhancers	Osteobl	bone

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