Variant report

Variant	rs6751322
Chromosome Location	chr2:183641419-183641420
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:21)

rs_ID	r²[population]
rs10167605	1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892187	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411826	1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415935	0.93[EUR][1000 genomes]
rs16823616	1.00[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2164919	0.81[AFR][1000 genomes]
rs28510622	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288277	0.87[EUR][1000 genomes]
rs288279	0.87[EUR][1000 genomes]
rs288284	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs288286	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs288297	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs288298	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs288333	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs288345	0.87[EUR][1000 genomes]
rs6731059	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738941	1.00[ASN][1000 genomes]
rs7581455	1.00[CHB][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7593637	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:121 , 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	chr2:183609000-183646600	Weak transcription	Hela-S3	cervix
5	chr2:183623200-183651400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:183625000-183642200	Weak transcription	Psoas Muscle	Psoas
7	chr2:183625000-183645800	Weak transcription	Small Intestine	intestine
8	chr2:183625000-183647000	Weak transcription	Placenta	Placenta
9	chr2:183625000-183648000	Weak transcription	Right Ventricle	heart
10	chr2:183625000-183650600	Weak transcription	Stomach Mucosa	stomach
11	chr2:183625600-183645000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:183626000-183647200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:183626600-183645000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:183627200-183647200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:183627200-183652600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:183627200-183657800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:183627400-183647000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:183627400-183652400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:183628400-183647000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:183628800-183644200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:183629000-183643400	Weak transcription	HMEC	breast
22	chr2:183629000-183645000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:183629200-183641800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:183629200-183642000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:183629200-183647800	Weak transcription	K562	blood
26	chr2:183629600-183643000	Weak transcription	NHEK	skin
27	chr2:183629800-183647200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:183630200-183642200	Weak transcription	Fetal Lung	lung
29	chr2:183630200-183647200	Weak transcription	NHDF-Ad	bronchial
30	chr2:183630400-183643600	Weak transcription	Left Ventricle	heart
31	chr2:183630400-183646800	Weak transcription	Fetal Brain Male	brain
32	chr2:183631000-183652800	Weak transcription	NHLF	lung
33	chr2:183631600-183645800	Weak transcription	Colonic Mucosa	Colon
34	chr2:183631600-183653400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:183632200-183644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:183632400-183644200	Weak transcription	Esophagus	oesophagus
37	chr2:183632400-183648200	Weak transcription	Fetal Heart	heart
38	chr2:183632800-183647200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:183633400-183643800	Weak transcription	Thymus	Thymus
40	chr2:183633400-183647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:183633600-183641800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:183633600-183642000	Weak transcription	NH-A	brain
43	chr2:183633600-183643600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:183633600-183647000	Weak transcription	HSMMtube	muscle
45	chr2:183633600-183647200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:183633800-183642000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:183633800-183643600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:183633800-183645600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:183633800-183652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:183633800-183657800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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