Variant report

Variant	rs1420018
Chromosome Location	chr2:63112500-63112501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1022110	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11682530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11688816	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11893131	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12713467	0.88[ASN][1000 genomes]
rs12713468	0.92[CEU][hapmap];0.89[ASN][1000 genomes]
rs12713469	0.85[CHB][hapmap]
rs12989754	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12994674	0.89[ASN][1000 genomes]
rs13013218	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13418889	0.87[EUR][1000 genomes]
rs1468748	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs1553832	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17027429	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs1828398	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs189671	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1906198	0.86[JPT][hapmap]
rs2058566	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2058567	0.91[EUR][1000 genomes]
rs2136737	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2215870	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421816	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2430388	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2539978	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2539980	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2539981	0.85[ASN][1000 genomes]
rs2539985	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2539987	0.95[CEU][hapmap];0.94[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2710637	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs2710638	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2710639	0.92[CEU][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2710640	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2710642	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2710644	0.80[EUR][1000 genomes]
rs2710647	0.90[CHB][hapmap]
rs2969300	0.83[YRI][hapmap]
rs360796	0.83[YRI][hapmap]
rs360797	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs360799	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs360800	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs360801	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs360804	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs360807	0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs360808	0.84[CHB][hapmap]
rs3927201	0.88[ASN][1000 genomes]
rs4461246	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671050	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs4671051	0.84[EUR][1000 genomes]
rs4671448	0.90[CHB][hapmap]
rs4671450	0.85[ASN][1000 genomes]
rs6545971	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545972	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs6545973	0.96[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6705798	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs6739804	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7557501	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs7562149	0.87[CEU][hapmap]
rs7562734	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7567923	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs7571916	0.91[EUR][1000 genomes]
rs7573756	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9678329	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9789661	0.82[EUR][1000 genomes]
rs9973612	0.88[CEU][hapmap]

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:60 , 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	chr2:63100800-63113400	Strong transcription	HepG2	liver
4	chr2:63101000-63115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:63102400-63119000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:63102400-63146200	Weak transcription	Aorta	Aorta
7	chr2:63102600-63149800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:63102800-63130600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:63102800-63150200	Weak transcription	Esophagus	oesophagus
10	chr2:63103400-63115800	Weak transcription	Small Intestine	intestine
11	chr2:63104000-63147800	Weak transcription	Fetal Stomach	stomach
12	chr2:63104200-63114600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:63104200-63126600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:63104400-63125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:63104600-63133200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:63105200-63126400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:63105600-63114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:63105800-63130000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:63105800-63130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:63105800-63134000	Weak transcription	Osteobl	bone
21	chr2:63106000-63121600	Weak transcription	HMEC	breast
22	chr2:63106000-63131600	Weak transcription	Fetal Intestine Large	intestine
23	chr2:63106000-63149600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:63106200-63149400	Weak transcription	Ovary	ovary
25	chr2:63106400-63138000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:63106600-63117000	Weak transcription	NH-A	brain
27	chr2:63107000-63113000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:63107000-63150200	Weak transcription	HSMM	muscle
29	chr2:63107200-63112800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:63107200-63115600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:63107200-63116000	Weak transcription	NHEK	skin
32	chr2:63107200-63122000	Weak transcription	NHLF	lung
33	chr2:63107200-63141600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:63107200-63146000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:63107200-63146000	Weak transcription	Left Ventricle	heart
36	chr2:63107400-63121400	Weak transcription	NHDF-Ad	bronchial
37	chr2:63107600-63125800	Weak transcription	Primary T cells from cord blood	blood
38	chr2:63108000-63114400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:63108000-63116600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:63108000-63122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:63108000-63126200	Weak transcription	Adipose Nuclei	Adipose
42	chr2:63108200-63114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:63108200-63122200	Weak transcription	A549	lung
44	chr2:63108200-63129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:63108200-63130000	Weak transcription	Brain Germinal Matrix	brain
46	chr2:63108200-63149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:63108200-63149600	Weak transcription	Fetal Lung	lung
48	chr2:63108400-63115200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:63108400-63123400	Weak transcription	Fetal Kidney	kidney
50	chr2:63108800-63124400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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