Variant report

Variant	rs72941192
Chromosome Location	chr4:143299225-143299226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10519644	0.96[ASN][1000 genomes]
rs11930321	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11944462	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11944503	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499785	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12500699	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12502921	0.94[ASN][1000 genomes]
rs12505845	0.94[ASN][1000 genomes]
rs17016123	0.81[EUR][1000 genomes]
rs2130251	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2130252	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2171756	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28555074	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28588752	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3775704	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4435818	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4476678	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4551010	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4566727	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59780536	0.91[ASN][1000 genomes]
rs60479909	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60684776	0.94[ASN][1000 genomes]
rs61515079	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66459818	0.91[ASN][1000 genomes]
rs66511868	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66537547	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66941440	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67001118	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67013221	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67111439	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67440355	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67710427	0.96[ASN][1000 genomes]
rs67760986	0.96[ASN][1000 genomes]
rs67947007	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67981369	0.86[ASN][1000 genomes]
rs68057722	0.94[ASN][1000 genomes]
rs6820234	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6829034	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6839769	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6851331	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6854342	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72724524	0.96[ASN][1000 genomes]
rs72724531	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724534	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72944948	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs931421	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143289000-143300600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:143289200-143300000	Weak transcription	NH-A	brain
3	chr4:143290400-143305800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:143290800-143300000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:143293400-143302800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr4:143294200-143299600	Weak transcription	Right Ventricle	heart
8	chr4:143294200-143300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:143294200-143305400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:143294800-143299400	Weak transcription	Aorta	Aorta
11	chr4:143294800-143299400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:143295000-143299800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr4:143295200-143305000	Weak transcription	Small Intestine	intestine
14	chr4:143295400-143299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:143295400-143300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:143295400-143301400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr4:143295600-143299600	Weak transcription	Stomach Mucosa	stomach
18	chr4:143296000-143301800	Enhancers	Fetal Heart	heart
19	chr4:143296200-143300600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:143296600-143299600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:143296600-143310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:143296800-143301000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:143297000-143300400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:143297000-143300400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:143297000-143300400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:143297000-143300800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:143297000-143300800	Weak transcription	A549	lung
28	chr4:143297000-143301000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:143297200-143300400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:143297600-143300400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:143297800-143301000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:143297800-143301000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:143298400-143299600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr4:143298400-143299800	Genic enhancers	HMEC	breast
35	chr4:143298400-143300000	Genic enhancers	HSMM	muscle
36	chr4:143298400-143302400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:143298600-143300400	Enhancers	Primary T cells from cord blood	blood
38	chr4:143298600-143300400	Enhancers	HSMMtube	muscle
39	chr4:143298600-143300400	Enhancers	Osteobl	bone
40	chr4:143298600-143301800	Enhancers	NHLF	lung
41	chr4:143298800-143299400	Weak transcription	Psoas Muscle	Psoas
42	chr4:143299000-143299400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:143299000-143299600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr4:143299000-143299600	Enhancers	Left Ventricle	heart
45	chr4:143299000-143299600	Enhancers	Ovary	ovary
46	chr4:143299000-143299600	Strong transcription	NHEK	skin
47	chr4:143299000-143299800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:143299000-143299800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:143299000-143299800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:143299000-143300000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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