Variant report

Variant	rs4723273
Chromosome Location	chr7:33224021-33224022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1009355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10257361	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11763098	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12666022	0.85[ASN][1000 genomes]
rs1420148	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1548880	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2006387	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723265	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4723272	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6960483	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6968400	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs759396	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776834	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7781187	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7793759	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33190200-33230400	Weak transcription	Gastric	stomach
2	chr7:33206200-33225400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:33206400-33230400	Weak transcription	Right Ventricle	heart
4	chr7:33206600-33230400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:33206600-33232600	Weak transcription	Pancreas	Pancrea
6	chr7:33206600-33234800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:33206800-33230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:33210800-33230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:33213400-33230600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:33214000-33230400	Weak transcription	Liver	Liver
11	chr7:33214200-33226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:33215400-33225600	Weak transcription	Osteobl	bone
13	chr7:33216200-33225600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:33216400-33225600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:33217000-33239200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:33217800-33231000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:33217800-33252400	Weak transcription	Aorta	Aorta
18	chr7:33218200-33226600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:33218200-33230200	Weak transcription	Adipose Nuclei	Adipose
20	chr7:33218200-33235000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:33218200-33252200	Weak transcription	Left Ventricle	heart
22	chr7:33219000-33225600	Weak transcription	Fetal Lung	lung
23	chr7:33219000-33230000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:33219200-33230200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:33219800-33230000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:33220600-33230400	Weak transcription	Fetal Intestine Large	intestine
27	chr7:33220600-33237000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:33220800-33225600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:33220800-33225800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:33220800-33225800	Weak transcription	HSMM	muscle
31	chr7:33220800-33225800	Weak transcription	HSMMtube	muscle
32	chr7:33220800-33228200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:33220800-33230000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:33220800-33230200	Weak transcription	Primary T cells from cord blood	blood
35	chr7:33220800-33230400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:33220800-33230600	Weak transcription	Fetal Intestine Small	intestine
37	chr7:33220800-33230600	Weak transcription	Spleen	Spleen
38	chr7:33221000-33225600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:33221000-33230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:33221000-33230400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:33221000-33231000	Weak transcription	Esophagus	oesophagus
42	chr7:33221000-33236200	Weak transcription	Brain Anterior Caudate	brain
43	chr7:33221000-33236400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:33223800-33224600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:33223800-33231000	Weak transcription	Ovary	ovary

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