Variant report

Variant	rs62147726
Chromosome Location	chr2:73232630-73232631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73227713..73230641-chr2:73231443..73233674,2	K562	blood:
2	chr2:73227183..73229213-chr2:73231275..73232943,2	K562	blood:
3	chr2:73232496..73234923-chr2:73234961..73237623,2	K562	blood:
4	chr2:73231481..73233996-chr2:73235137..73237623,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1046183	0.88[AFR][1000 genomes]
rs10496188	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13404068	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17008541	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17008565	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17008579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008608	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421099	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs3849393	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58469852	0.81[AFR][1000 genomes]
rs58731407	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59108557	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61164794	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61652727	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62147718	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62147722	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62147727	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147728	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147731	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62147733	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62147735	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62147756	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62148129	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62148130	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66570372	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6710911	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6753054	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6753133	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6753301	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67673165	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73190600-73234400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:73194200-73248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:73207800-73263200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:73208000-73247600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:73211000-73258400	Weak transcription	Colonic Mucosa	Colon
6	chr2:73211600-73235800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:73212200-73247400	Weak transcription	HSMMtube	muscle
8	chr2:73212400-73236000	Weak transcription	Esophagus	oesophagus
9	chr2:73212800-73238800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:73213800-73236200	Weak transcription	Pancreas	Pancrea
11	chr2:73214000-73238400	Weak transcription	Fetal Lung	lung
12	chr2:73214200-73247800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
14	chr2:73215400-73236000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:73215800-73235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:73215800-73247400	Weak transcription	Thymus	Thymus
17	chr2:73215800-73263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:73216000-73236000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:73216200-73248800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:73216800-73234400	Weak transcription	Primary T cells from cord blood	blood
21	chr2:73217400-73236200	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:73217400-73249000	Weak transcription	Ovary	ovary
23	chr2:73217800-73237400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:73220600-73249000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:73220600-73263200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:73221200-73263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:73223200-73274600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:73223400-73232800	Weak transcription	Brain Germinal Matrix	brain
29	chr2:73223600-73235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:73224600-73261200	Weak transcription	Brain Substantia Nigra	brain
31	chr2:73226200-73236200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:73226200-73248800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:73226400-73236400	Weak transcription	Brain Anterior Caudate	brain
34	chr2:73226600-73236000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:73227600-73249000	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:73227800-73233800	Weak transcription	HUVEC	blood vessel
37	chr2:73227800-73234000	Weak transcription	K562	blood
38	chr2:73227800-73235000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:73227800-73236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:73227800-73240800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:73227800-73240800	Weak transcription	HSMM	muscle
42	chr2:73227800-73241000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:73227800-73241000	Weak transcription	NHLF	lung
44	chr2:73227800-73241400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:73227800-73248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:73228000-73232800	Weak transcription	Osteobl	bone
47	chr2:73228000-73233000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:73228000-73236000	Weak transcription	A549	lung
49	chr2:73228000-73245800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:73228000-73248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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