Variant report

Variant	rs2539981
Chromosome Location	chr2:63104904-63104905
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	chr2:63075968..63078397-chr2:63103396..63106295,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11682530	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11688816	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12713469	0.92[ASN][1000 genomes]
rs13418889	0.86[AFR][1000 genomes]
rs1420018	0.85[ASN][1000 genomes]
rs17027429	0.87[AFR][1000 genomes]
rs2058567	0.87[AFR][1000 genomes]
rs2080227	0.91[AFR][1000 genomes]
rs2215870	0.81[ASN][1000 genomes]
rs2430386	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2430388	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2539982	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2539985	0.81[ASN][1000 genomes]
rs2539990	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2710638	0.80[ASN][1000 genomes]
rs2710640	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2710641	0.95[ASN][1000 genomes]
rs2710642	0.81[ASN][1000 genomes]
rs2710647	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2710651	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs360808	0.81[ASN][1000 genomes]
rs4671448	0.87[ASN][1000 genomes]
rs6545971	0.86[AFR][1000 genomes]
rs6545972	0.81[AFR][1000 genomes]
rs7557501	0.85[AFR][1000 genomes]
rs7567923	0.86[AFR][1000 genomes]
rs9789661	0.84[AFR][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	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
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63061200-63115200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:63098200-63108200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:63098400-63114400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:63099600-63112200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:63099800-63106600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:63099800-63106600	Strong transcription	NH-A	brain
7	chr2:63099800-63107400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:63100200-63107000	Strong transcription	HSMM	muscle
9	chr2:63100200-63108000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:63100400-63105800	Weak transcription	Colonic Mucosa	Colon
11	chr2:63100400-63106200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:63100800-63113400	Strong transcription	HepG2	liver
13	chr2:63101000-63106600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:63101000-63107400	Strong transcription	NHDF-Ad	bronchial
15	chr2:63101000-63107600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:63101000-63110800	Strong transcription	Liver	Liver
17	chr2:63101000-63111200	Weak transcription	HUVEC	blood vessel
18	chr2:63101000-63111400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:63101000-63115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:63101200-63105800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:63101200-63110200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:63101400-63105800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:63101400-63105800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr2:63101400-63106000	Strong transcription	HMEC	breast
25	chr2:63101400-63108000	Strong transcription	Adipose Nuclei	Adipose
26	chr2:63101400-63110800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:63101600-63105000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:63101600-63105200	Strong transcription	Fetal Heart	heart
29	chr2:63101600-63105400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:63101600-63106000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:63101600-63107200	Strong transcription	NHLF	lung
32	chr2:63101800-63105600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:63101800-63105800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:63101800-63105800	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr2:63102000-63105600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:63102000-63105600	ZNF genes & repeats	Fetal Brain Female	brain
37	chr2:63102000-63106600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:63102200-63105200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:63102200-63107200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr2:63102400-63105000	Weak transcription	HSMMtube	muscle
41	chr2:63102400-63105200	Strong transcription	Rectal Smooth Muscle	rectum
42	chr2:63102400-63105600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:63102400-63105600	Weak transcription	Fetal Thymus	thymus
44	chr2:63102400-63108200	Strong transcription	A549	lung
45	chr2:63102400-63111200	Weak transcription	Hela-S3	cervix
46	chr2:63102400-63119000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:63102400-63146200	Weak transcription	Aorta	Aorta
48	chr2:63102600-63105200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:63102600-63105200	Weak transcription	Right Ventricle	heart
50	chr2:63102600-63105400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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