Variant report

Variant	rs13399663
Chromosome Location	chr2:183638314-183638315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10167605	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892187	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411826	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415935	0.89[EUR][1000 genomes]
rs16823616	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28510622	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288277	0.84[EUR][1000 genomes]
rs288279	0.84[EUR][1000 genomes]
rs288284	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs288286	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs288297	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs288298	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs288333	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs288345	0.84[EUR][1000 genomes]
rs6731059	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738941	1.00[ASN][1000 genomes]
rs6751322	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581455	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7593637	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv10204	chr2:183609768-183639750	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581800-183647600	Weak transcription	Gastric	stomach
2	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
3	chr2:183605600-183646000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:183607200-183638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:183609000-183646600	Weak transcription	Hela-S3	cervix
6	chr2:183610000-183638800	Weak transcription	Lung	lung
7	chr2:183610200-183639000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:183623200-183639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:183623200-183651400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:183625000-183639000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:183625000-183642200	Weak transcription	Psoas Muscle	Psoas
12	chr2:183625000-183645800	Weak transcription	Small Intestine	intestine
13	chr2:183625000-183647000	Weak transcription	Placenta	Placenta
14	chr2:183625000-183648000	Weak transcription	Right Ventricle	heart
15	chr2:183625000-183650600	Weak transcription	Stomach Mucosa	stomach
16	chr2:183625600-183645000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:183626000-183647200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:183626600-183645000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:183627200-183647200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:183627200-183652600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:183627200-183657800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:183627400-183647000	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:183627400-183652400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:183628400-183647000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:183628800-183640200	Weak transcription	Fetal Kidney	kidney
26	chr2:183628800-183644200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:183629000-183643400	Weak transcription	HMEC	breast
28	chr2:183629000-183645000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:183629200-183639000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:183629200-183641800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:183629200-183642000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:183629200-183647800	Weak transcription	K562	blood
33	chr2:183629600-183643000	Weak transcription	NHEK	skin
34	chr2:183629800-183647200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:183630000-183641200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:183630200-183642200	Weak transcription	Fetal Lung	lung
37	chr2:183630200-183647200	Weak transcription	NHDF-Ad	bronchial
38	chr2:183630400-183641200	Weak transcription	HUVEC	blood vessel
39	chr2:183630400-183643600	Weak transcription	Left Ventricle	heart
40	chr2:183630400-183646800	Weak transcription	Fetal Brain Male	brain
41	chr2:183631000-183641000	Weak transcription	Liver	Liver
42	chr2:183631000-183652800	Weak transcription	NHLF	lung
43	chr2:183631200-183639200	Weak transcription	HSMM	muscle
44	chr2:183631200-183639600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:183631600-183641200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:183631600-183645800	Weak transcription	Colonic Mucosa	Colon
47	chr2:183631600-183653400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:183632200-183644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:183632400-183644200	Weak transcription	Esophagus	oesophagus
50	chr2:183632400-183648200	Weak transcription	Fetal Heart	heart

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