Variant report

Variant	rs2539982
Chromosome Location	chr2:63111004-63111005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11893131	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13410889	0.98[ASN][1000 genomes]
rs13418889	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1468748	0.81[AFR][1000 genomes]
rs17027429	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2058567	0.87[ASN][1000 genomes]
rs2080227	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2421816	0.84[ASN][1000 genomes]
rs2430386	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2430388	0.83[AFR][1000 genomes]
rs2539981	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2539990	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2710639	0.82[ASN][1000 genomes]
rs2710640	0.80[AFR][1000 genomes]
rs2710647	0.81[EUR][1000 genomes]
rs2710651	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545971	0.86[AFR][1000 genomes]
rs6545972	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6545973	0.86[ASN][1000 genomes]
rs6714241	0.83[ASN][1000 genomes]
rs7557501	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7567923	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7591708	0.83[ASN][1000 genomes]
rs9789661	0.81[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	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63061200-63115200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:63098400-63114400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:63099600-63112200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:63100800-63113400	Strong transcription	HepG2	liver
5	chr2:63101000-63111200	Weak transcription	HUVEC	blood vessel
6	chr2:63101000-63111400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:63101000-63115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:63102400-63111200	Weak transcription	Hela-S3	cervix
9	chr2:63102400-63119000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:63102400-63146200	Weak transcription	Aorta	Aorta
11	chr2:63102600-63149800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:63102800-63111600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:63102800-63130600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:63102800-63150200	Weak transcription	Esophagus	oesophagus
15	chr2:63103200-63112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:63103400-63112200	Weak transcription	Placenta	Placenta
17	chr2:63103400-63115800	Weak transcription	Small Intestine	intestine
18	chr2:63104000-63147800	Weak transcription	Fetal Stomach	stomach
19	chr2:63104200-63114600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:63104200-63126600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:63104400-63125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:63104600-63112000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:63104600-63112200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:63104600-63133200	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:63105200-63111200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:63105200-63126400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:63105600-63114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:63105800-63130000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:63105800-63130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:63105800-63134000	Weak transcription	Osteobl	bone
31	chr2:63106000-63121600	Weak transcription	HMEC	breast
32	chr2:63106000-63131600	Weak transcription	Fetal Intestine Large	intestine
33	chr2:63106000-63149600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:63106200-63149400	Weak transcription	Ovary	ovary
35	chr2:63106400-63138000	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:63106600-63111400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:63106600-63117000	Weak transcription	NH-A	brain
38	chr2:63107000-63113000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:63107000-63150200	Weak transcription	HSMM	muscle
40	chr2:63107200-63112800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:63107200-63115600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:63107200-63116000	Weak transcription	NHEK	skin
43	chr2:63107200-63122000	Weak transcription	NHLF	lung
44	chr2:63107200-63141600	Weak transcription	Primary B cells from cord blood	blood
45	chr2:63107200-63146000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:63107200-63146000	Weak transcription	Left Ventricle	heart
47	chr2:63107400-63121400	Weak transcription	NHDF-Ad	bronchial
48	chr2:63107600-63125800	Weak transcription	Primary T cells from cord blood	blood
49	chr2:63108000-63114400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:63108000-63116600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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