Variant report

Variant	rs62328284
Chromosome Location	chr4:143241936-143241937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10013303	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10024947	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10025044	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10034842	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10519642	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945996	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998530	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015920	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1872296	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34991177	0.85[ASN][1000 genomes]
rs35157240	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35298298	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3756121	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328283	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62328285	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62328295	0.89[ASN][1000 genomes]
rs6811427	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6812034	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816219	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6817826	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6847957	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6850050	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858661	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960680	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9654253	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	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	nsv830099	chr4:143138257-143285055	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143217600-143260800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:143233800-143257200	Weak transcription	Left Ventricle	heart
3	chr4:143234000-143242000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:143234800-143271800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:143235000-143243200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:143235000-143244200	Weak transcription	NHDF-Ad	bronchial
7	chr4:143235600-143266400	Weak transcription	NHEK	skin
8	chr4:143236000-143252000	Weak transcription	HSMM	muscle
9	chr4:143236200-143243400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:143236200-143245600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:143236200-143257000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:143236200-143257200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:143236200-143257600	Weak transcription	HMEC	breast
14	chr4:143236400-143244000	Weak transcription	Dnd41	blood
15	chr4:143236400-143247400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:143237200-143251200	Weak transcription	Stomach Mucosa	stomach
17	chr4:143237400-143244000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:143237400-143252000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:143237600-143251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:143238200-143244200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:143240200-143243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:143240200-143245400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:143240200-143246600	Weak transcription	HSMMtube	muscle
24	chr4:143240400-143257000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:143240800-143242000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:143241000-143242000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr4:143241000-143244200	Weak transcription	Primary T cells from cord blood	blood
28	chr4:143241000-143244800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:143241000-143245200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:143241000-143245400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:143241400-143243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:143241400-143245600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:143241600-143245200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:143241600-143245600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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