Variant report

Variant	rs7564773
Chromosome Location	chr2:98571084-98571085
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10432626	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678591	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11679828	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11680018	0.84[EUR][1000 genomes]
rs11680321	0.82[ASN][1000 genomes]
rs11680883	0.85[EUR][1000 genomes]
rs11681535	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11684749	0.83[ASN][1000 genomes]
rs11688829	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11690687	0.84[EUR][1000 genomes]
rs11690737	0.84[EUR][1000 genomes]
rs11691494	0.83[ASN][1000 genomes]
rs11692010	0.83[ASN][1000 genomes]
rs11692470	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12052222	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12052836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12052846	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104810	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12988571	0.80[EUR][1000 genomes]
rs13008968	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13020776	0.82[ASN][1000 genomes]
rs13023980	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13028954	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13032265	0.83[ASN][1000 genomes]
rs13032883	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13034929	0.80[EUR][1000 genomes]
rs1470483	0.80[EUR][1000 genomes]
rs17489454	0.83[ASN][1000 genomes]
rs17489915	0.83[ASN][1000 genomes]
rs17489984	0.80[EUR][1000 genomes]
rs17490429	0.83[EUR][1000 genomes]
rs1838797	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1875699	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2044458	0.82[ASN][1000 genomes]
rs2044459	0.83[EUR][1000 genomes]
rs2084176	0.83[EUR][1000 genomes]
rs2278700	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305143	0.83[ASN][1000 genomes]
rs2871183	0.83[ASN][1000 genomes]
rs3198055	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34373359	0.83[EUR][1000 genomes]
rs34502870	0.83[ASN][1000 genomes]
rs34503448	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34528940	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34654057	0.80[EUR][1000 genomes]
rs34974566	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35098301	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35218942	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35255677	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35424768	0.83[ASN][1000 genomes]
rs35505530	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35564270	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35783535	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4311104	0.83[ASN][1000 genomes]
rs55776387	0.80[EUR][1000 genomes]
rs55886305	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57681139	0.82[ASN][1000 genomes]
rs58546246	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62156511	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6710088	0.83[AMR][1000 genomes]
rs6711101	0.82[ASN][1000 genomes]
rs6738389	0.80[EUR][1000 genomes]
rs6746768	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748124	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6757357	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7421146	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7583868	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7601898	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953320	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98563600-98589200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:98564600-98580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:98567000-98574400	Weak transcription	Lung	lung
4	chr2:98567200-98574200	Weak transcription	Small Intestine	intestine
5	chr2:98567400-98574000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:98567600-98586600	Weak transcription	Fetal Stomach	stomach
7	chr2:98568000-98571800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:98568000-98574000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:98568000-98574400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:98568000-98574400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:98568000-98574400	Weak transcription	Ovary	ovary
12	chr2:98568000-98574400	Weak transcription	Spleen	Spleen
13	chr2:98568000-98578200	Weak transcription	Brain Anterior Caudate	brain
14	chr2:98568000-98583000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:98568200-98573200	Weak transcription	Left Ventricle	heart
16	chr2:98568200-98573800	Weak transcription	Liver	Liver
17	chr2:98568200-98574200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:98568200-98574400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:98568200-98574400	Weak transcription	Pancreas	Pancrea
20	chr2:98568200-98574400	Weak transcription	Psoas Muscle	Psoas
21	chr2:98568200-98574400	Weak transcription	Right Atrium	heart
22	chr2:98568200-98580800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:98568200-98599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:98568400-98573600	Weak transcription	HMEC	breast
25	chr2:98568400-98574200	Weak transcription	HSMM	muscle
26	chr2:98568400-98574400	Weak transcription	Gastric	stomach
27	chr2:98568400-98586600	Weak transcription	Aorta	Aorta
28	chr2:98568400-98592000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:98569200-98574000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:98569200-98574000	Weak transcription	NHEK	skin
31	chr2:98569200-98574200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:98569200-98574200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:98569200-98574400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:98569200-98579400	Weak transcription	Esophagus	oesophagus
35	chr2:98569200-98579600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:98569200-98580600	Weak transcription	NHDF-Ad	bronchial
37	chr2:98569200-98581400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:98569400-98574200	Weak transcription	Placenta	Placenta
39	chr2:98569800-98571200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:98569800-98572200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:98570600-98572600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:98570600-98574000	Weak transcription	Primary T cells from cord blood	blood
43	chr2:98570800-98571200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:98570800-98574200	Weak transcription	Primary B cells from cord blood	blood
45	chr2:98570800-98574200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:98571000-98571600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:98571000-98571800	Enhancers	GM12878-XiMat	blood
48	chr2:98571000-98573800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:98571000-98574400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:98571000-98579400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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