Variant report

Variant	rs62147756
Chromosome Location	chr2:73282503-73282504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73282143..73284248-chr2:73287345..73289978,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1046183	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10496188	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13404068	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17008541	0.81[EUR][1000 genomes]
rs17008565	0.82[EUR][1000 genomes]
rs17008579	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17008608	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421099	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56931614	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56992198	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57875548	0.82[AMR][1000 genomes]
rs58469852	0.89[AMR][1000 genomes]
rs58617186	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58659495	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58731407	0.82[EUR][1000 genomes]
rs59108557	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59802755	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60341789	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61061024	0.84[EUR][1000 genomes]
rs61164794	0.81[EUR][1000 genomes]
rs61652727	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62147718	0.81[EUR][1000 genomes]
rs62147722	0.82[EUR][1000 genomes]
rs62147726	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62147727	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62147728	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62147731	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62147733	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62147735	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66570372	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67421457	0.82[AMR][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73246600-73283800	Weak transcription	Hela-S3	cervix
3	chr2:73247400-73283800	Weak transcription	Dnd41	blood
4	chr2:73249400-73284200	Weak transcription	Aorta	Aorta
5	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
6	chr2:73249600-73290000	Weak transcription	NHLF	lung
7	chr2:73250200-73284200	Weak transcription	Ovary	ovary
8	chr2:73256800-73290000	Weak transcription	HSMM	muscle
9	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
10	chr2:73260200-73284200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:73260600-73284400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:73260800-73283800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:73261400-73284200	Weak transcription	Gastric	stomach
14	chr2:73262800-73290600	Weak transcription	NHEK	skin
15	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:73264600-73284400	Weak transcription	Esophagus	oesophagus
17	chr2:73265600-73283800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:73267800-73289400	Weak transcription	K562	blood
19	chr2:73268000-73284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:73268200-73284200	Weak transcription	Lung	lung
21	chr2:73268400-73283800	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:73268600-73289400	Weak transcription	Right Ventricle	heart
23	chr2:73269000-73283000	Weak transcription	Primary B cells from cord blood	blood
24	chr2:73272000-73283600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:73272200-73283600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:73272400-73283200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:73272400-73283400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:73272400-73283400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
30	chr2:73272800-73283400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:73275000-73283200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
33	chr2:73276600-73284000	Strong transcription	Liver	Liver
34	chr2:73277400-73283600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:73277600-73284000	Weak transcription	Placenta	Placenta
36	chr2:73277800-73283600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:73277800-73283800	Weak transcription	Primary T cells from cord blood	blood
38	chr2:73277800-73284200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:73277800-73284200	Weak transcription	Thymus	Thymus
40	chr2:73277800-73284400	Weak transcription	Spleen	Spleen
41	chr2:73277800-73285800	Weak transcription	Fetal Brain Male	brain
42	chr2:73277800-73290400	Weak transcription	HMEC	breast
43	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:73278000-73283600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:73278000-73283600	Weak transcription	Fetal Brain Female	brain
47	chr2:73278000-73283800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:73278000-73283800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:73278000-73283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:73278000-73284000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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