Variant report

Variant	rs62147601
Chromosome Location	chr2:72463898-72463899
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72461728..72464691-chr2:72483813..72486415,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1002415	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171231	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490039	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490040	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339845	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007906	1.00[ASN][1000 genomes]
rs17007927	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007929	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007933	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007934	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007937	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192012	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813510	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994075	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152907	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57013742	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58032693	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58173605	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58339219	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59269913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61391258	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61450122	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147574	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147580	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147581	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147586	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147587	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147588	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147590	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147598	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147623	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147625	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147630	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147631	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147637	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149279	0.84[EUR][1000 genomes]
rs62149280	0.84[EUR][1000 genomes]
rs62150087	1.00[ASN][1000 genomes]
rs62150096	1.00[ASN][1000 genomes]
rs62150097	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150118	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150119	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150120	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150123	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705261	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705347	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707549	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748698	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910329	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910330	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910350	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583202	1.00[ASN][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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72433200-72466000	Weak transcription	Right Ventricle	heart
2	chr2:72433200-72468600	Weak transcription	Right Atrium	heart
3	chr2:72462600-72465800	Enhancers	HMEC	breast
4	chr2:72462800-72464000	Enhancers	Brain Hippocampus Middle	brain
5	chr2:72462800-72464000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:72462800-72464000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr2:72462800-72464400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:72462800-72464400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr2:72462800-72464400	Enhancers	Hela-S3	cervix
10	chr2:72462800-72464400	Enhancers	HSMM	muscle
11	chr2:72462800-72464400	Enhancers	HSMMtube	muscle
12	chr2:72462800-72465400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:72462800-72465400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:72462800-72465600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:72462800-72465800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:72462800-72465800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:72462800-72466200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:72463000-72465800	Enhancers	Osteobl	bone
19	chr2:72463000-72466000	Enhancers	NHDF-Ad	bronchial
20	chr2:72463200-72464000	Enhancers	Aorta	Aorta
21	chr2:72463200-72464000	Enhancers	Fetal Muscle Leg	muscle
22	chr2:72463200-72464200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:72463200-72464200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:72463200-72464200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:72463200-72464200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:72463200-72464200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:72463200-72464200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:72463200-72464200	Enhancers	HUVEC	blood vessel
29	chr2:72463200-72464200	Enhancers	NH-A	brain
30	chr2:72463200-72464400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:72463200-72464400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:72463200-72464400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:72463200-72464400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:72463200-72464400	Enhancers	NHLF	lung
35	chr2:72463200-72464600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:72463200-72465000	Enhancers	Colon Smooth Muscle	Colon
37	chr2:72463200-72465200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:72463400-72464000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:72463400-72464200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:72463400-72464200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:72463400-72464200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:72463400-72464200	Flanking Active TSS	NHEK	skin
43	chr2:72463600-72464000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:72463600-72464000	Enhancers	Brain Angular Gyrus	brain
45	chr2:72463600-72464000	Flanking Active TSS	A549	lung
46	chr2:72463600-72464200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:72463600-72464400	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:72463800-72464200	Enhancers	Adipose Nuclei	Adipose

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