Variant report

Variant	rs72762695
Chromosome Location	chr1:226462953-226462954
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10915963	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11577454	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11579072	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11587767	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11802954	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17575721	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2169568	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57707220	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58149851	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67440774	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68046363	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72762688	0.88[AMR][1000 genomes]
rs72762699	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72764505	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72764508	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1825303	chr1:226458998-226481551	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:226415800-226495400	Weak transcription	Liver	Liver
5	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
7	chr1:226425000-226474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:226434200-226496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:226436800-226496000	Weak transcription	Esophagus	oesophagus
10	chr1:226438400-226473400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:226448200-226467200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:226448200-226492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:226448200-226495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:226449800-226470600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:226449800-226484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:226450000-226465600	Strong transcription	Dnd41	blood
17	chr1:226450000-226484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:226450600-226463400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:226450800-226495600	Weak transcription	Adipose Nuclei	Adipose
20	chr1:226451000-226483400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:226451200-226474600	Weak transcription	Primary B cells from cord blood	blood
22	chr1:226451200-226481000	Weak transcription	Fetal Brain Female	brain
23	chr1:226451200-226489000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:226451800-226474000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:226451800-226474000	Weak transcription	HUVEC	blood vessel
26	chr1:226451800-226480000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:226452000-226481800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:226452000-226496000	Weak transcription	Fetal Lung	lung
29	chr1:226452400-226471000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:226452600-226466600	Weak transcription	Fetal Stomach	stomach
31	chr1:226452800-226482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:226453400-226464400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:226453400-226470600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:226453400-226478200	Weak transcription	Fetal Intestine Large	intestine
35	chr1:226453400-226484600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr1:226453600-226473800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:226454200-226469600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:226455000-226486000	Weak transcription	Spleen	Spleen
39	chr1:226455200-226470600	Weak transcription	Fetal Intestine Small	intestine
40	chr1:226456000-226472600	Weak transcription	Hela-S3	cervix
41	chr1:226456600-226483800	Weak transcription	Ovary	ovary
42	chr1:226456600-226484000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:226456600-226496000	Weak transcription	Brain Angular Gyrus	brain
44	chr1:226456800-226483200	Weak transcription	Primary T cells from cord blood	blood
45	chr1:226457000-226495600	Weak transcription	Fetal Kidney	kidney
46	chr1:226457200-226464400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:226457200-226474200	Weak transcription	Osteobl	bone
48	chr1:226457200-226483600	Weak transcription	GM12878-XiMat	blood
49	chr1:226457200-226495600	Weak transcription	NHDF-Ad	bronchial
50	chr1:226457200-226495600	Weak transcription	NHLF	lung

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