Variant report

Variant	rs60912389
Chromosome Location	chr2:36765837-36765838
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36763939..36768189-chr2:36769601..36773260,6	K562	blood:
2	chr2:36743424..36745842-chr2:36763620..36766499,2	K562	blood:
3	chr2:36763869..36766719-chr2:36767106..36769218,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12617489	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623936	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770813	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770817	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55711866	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57714519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59154738	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
3	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
4	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
6	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
7	chr2:36747800-36774200	Weak transcription	Liver	Liver
8	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
11	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:36752800-36766400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:36756400-36767400	Weak transcription	Primary T cells from cord blood	blood
15	chr2:36756400-36769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:36757600-36769200	Strong transcription	Placenta	Placenta
17	chr2:36758000-36778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:36758200-36766200	Weak transcription	Right Atrium	heart
19	chr2:36758200-36768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:36758200-36771000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:36758400-36766400	Strong transcription	HSMM	muscle
22	chr2:36758400-36774200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:36758400-36779200	Weak transcription	Brain Angular Gyrus	brain
24	chr2:36758600-36766200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr2:36758600-36770600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:36760000-36782000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:36760600-36769400	Weak transcription	Fetal Kidney	kidney
28	chr2:36762000-36769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:36762400-36766200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:36762400-36783200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:36762800-36766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:36762800-36783800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:36763000-36766000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:36763000-36766200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:36763000-36766400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:36763000-36768600	Strong transcription	Adipose Nuclei	Adipose
37	chr2:36763000-36778600	Genic enhancers	HUVEC	blood vessel
38	chr2:36763200-36766200	Strong transcription	NHEK	skin
39	chr2:36763200-36766600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:36763200-36766600	Enhancers	K562	blood
41	chr2:36763200-36768600	Strong transcription	Fetal Intestine Small	intestine
42	chr2:36763200-36769600	Strong transcription	Fetal Muscle Leg	muscle
43	chr2:36763200-36770200	Strong transcription	Fetal Stomach	stomach
44	chr2:36763200-36773000	Strong transcription	HSMMtube	muscle
45	chr2:36763200-36784200	Strong transcription	HepG2	liver
46	chr2:36763200-36785200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:36763600-36768800	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr2:36763600-36769000	Strong transcription	Fetal Lung	lung
49	chr2:36763600-36779200	Strong transcription	Primary B cells from cord blood	blood
50	chr2:36763600-36779800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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