Variant report

Variant	rs57232122
Chromosome Location	chr2:39632232-39632233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39627754..39629424-chr2:39632198..39633991,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10196253	0.88[ASN][1000 genomes]
rs11124681	0.94[ASN][1000 genomes]
rs11688998	0.88[ASN][1000 genomes]
rs12623945	1.00[AMR][1000 genomes]
rs17023504	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17023656	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17023777	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3755170	1.00[AMR][1000 genomes]
rs3755175	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3770676	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3770677	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3770679	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55748017	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56833014	0.88[ASN][1000 genomes]
rs57103739	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58704884	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59784621	1.00[AMR][1000 genomes]
rs60192971	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61480659	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6544226	0.94[ASN][1000 genomes]
rs7591102	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak 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	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
2	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:39618000-39633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:39620200-39635600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:39622000-39635400	Weak transcription	HSMM	muscle
6	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
7	chr2:39622800-39643200	Weak transcription	Fetal Brain Male	brain
8	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:39625400-39634400	Weak transcription	Fetal Intestine Large	intestine
10	chr2:39626800-39634200	Weak transcription	Fetal Kidney	kidney
11	chr2:39626800-39635800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:39627000-39632400	Weak transcription	HSMMtube	muscle
13	chr2:39627000-39632800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:39627000-39636600	Weak transcription	Osteobl	bone
15	chr2:39627200-39633600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:39627400-39633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:39627400-39634800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:39627400-39635000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:39627400-39636600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:39627400-39639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:39628000-39632800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:39628200-39632600	Weak transcription	Fetal Lung	lung
23	chr2:39628200-39635000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:39628400-39633400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:39628600-39633800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:39628800-39634800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:39629600-39632400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:39629800-39635400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:39630200-39633000	Enhancers	Left Ventricle	heart
30	chr2:39630200-39633000	Enhancers	K562	blood
31	chr2:39630200-39635000	Weak transcription	Thymus	Thymus
32	chr2:39630400-39633000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:39630400-39633000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:39630400-39633000	Enhancers	Aorta	Aorta
35	chr2:39630400-39633000	Enhancers	Gastric	stomach
36	chr2:39630400-39633000	Enhancers	Pancreas	Pancrea
37	chr2:39630400-39633000	Enhancers	Psoas Muscle	Psoas
38	chr2:39630400-39633000	Enhancers	Right Atrium	heart
39	chr2:39630400-39633000	Enhancers	HMEC	breast
40	chr2:39630400-39633400	Enhancers	NHEK	skin
41	chr2:39630400-39634000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:39630400-39637400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:39630600-39632400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:39630600-39632400	Strong transcription	Fetal Intestine Small	intestine
45	chr2:39630600-39633000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:39630600-39633000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:39630600-39633000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:39630600-39633000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:39630600-39635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:39630600-39635800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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