Variant report

Variant	rs57227316
Chromosome Location	chr2:150984326-150984327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:150978906..150980943-chr2:150982892..150984626,2	K562	blood:
2	chr2:150984090..150985971-chr2:150989879..150991996,2	MCF-7	breast:
3	chr2:150981948..150984533-chr2:150988728..150991598,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12619142	0.89[EUR][1000 genomes]
rs12624103	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16827807	0.89[EUR][1000 genomes]
rs34339453	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv875285	chr2:150904671-150985765	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:150977800-150990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:150979200-150985000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:150979200-150985000	Enhancers	NH-A	brain
4	chr2:150981200-150984600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:150981200-150984600	Enhancers	HMEC	breast
6	chr2:150981200-150984800	Enhancers	NHDF-Ad	bronchial
7	chr2:150981200-150984800	Enhancers	NHLF	lung
8	chr2:150981400-150984600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:150981400-150984800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:150982200-150984600	Enhancers	Fetal Intestine Large	intestine
11	chr2:150982200-150984800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:150982200-150984800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:150982200-150984800	Enhancers	Fetal Muscle Leg	muscle
14	chr2:150982200-150985200	Enhancers	Fetal Lung	lung
15	chr2:150982200-150985200	Enhancers	HUVEC	blood vessel
16	chr2:150982600-150985000	Enhancers	Osteobl	bone
17	chr2:150982800-150984400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:150982800-150984600	Enhancers	A549	lung
19	chr2:150982800-150984800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:150983200-150984600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:150983200-150984800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:150983400-150984400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:150983400-150984600	Enhancers	Fetal Intestine Small	intestine
24	chr2:150983400-150985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:150983600-150984400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:150983600-150984800	Enhancers	NHEK	skin
27	chr2:150983600-150990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:150983600-150990400	Weak transcription	Fetal Kidney	kidney
29	chr2:150983800-150984600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:150984000-150984600	Enhancers	Fetal Muscle Trunk	muscle
31	chr2:150984000-150985000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:150984200-150990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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