Variant report

Variant	rs62119429
Chromosome Location	chr2:9743585-9743586
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9729206..9731620-chr2:9742153..9744799,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10495571	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10495572	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10495573	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11676903	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11692112	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11694314	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16867083	0.90[EUR][1000 genomes]
rs17362734	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17362839	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362902	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453675	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453724	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17453752	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55883249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56372340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57234614	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57407838	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60319753	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs60726087	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119391	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62119392	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119393	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119422	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62119423	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62119428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119431	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119432	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119433	0.96[AFR][1000 genomes];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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9719200-9747800	Weak transcription	Lung	lung
3	chr2:9732400-9747600	Weak transcription	Placenta	Placenta
4	chr2:9734000-9748000	Weak transcription	Pancreas	Pancrea
5	chr2:9734600-9748000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:9735200-9748400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:9735400-9748000	Weak transcription	Aorta	Aorta
8	chr2:9735400-9748000	Weak transcription	Spleen	Spleen
9	chr2:9735600-9748400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:9735800-9747600	Weak transcription	Stomach Mucosa	stomach
11	chr2:9735800-9748200	Weak transcription	Ovary	ovary
12	chr2:9737000-9747800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:9737000-9748000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:9737200-9747400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:9737200-9748000	Weak transcription	Small Intestine	intestine
16	chr2:9737400-9747600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:9737400-9747600	Weak transcription	Hela-S3	cervix
18	chr2:9737400-9747800	Weak transcription	Fetal Heart	heart
19	chr2:9738200-9744400	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr2:9738400-9744800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:9739200-9747800	Weak transcription	Left Ventricle	heart
22	chr2:9739600-9747800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:9739800-9747600	Weak transcription	Right Ventricle	heart
24	chr2:9739800-9747800	Weak transcription	Psoas Muscle	Psoas
25	chr2:9740000-9747800	Weak transcription	Colonic Mucosa	Colon
26	chr2:9740200-9747600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:9740200-9748000	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:9740200-9748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:9740400-9743600	ZNF genes & repeats	Fetal Stomach	stomach
30	chr2:9740400-9747600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:9740400-9747600	Weak transcription	Brain Substantia Nigra	brain
32	chr2:9740400-9747800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:9740400-9747800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:9740400-9748000	Weak transcription	Brain Anterior Caudate	brain
35	chr2:9740400-9748000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:9740400-9748400	Weak transcription	HSMMtube	muscle
37	chr2:9740600-9747600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:9740600-9747600	Weak transcription	Adipose Nuclei	Adipose
39	chr2:9740600-9747600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:9740600-9747600	Weak transcription	HUVEC	blood vessel
41	chr2:9740600-9747600	Weak transcription	NHLF	lung
42	chr2:9740600-9747800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:9740600-9748000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:9740600-9748000	Weak transcription	Fetal Brain Male	brain
45	chr2:9741000-9747600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:9741000-9747800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:9741000-9748000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:9741200-9743600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:9741200-9744000	Strong transcription	A549	lung
50	chr2:9741200-9747000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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