Variant report

Variant	rs72951478
Chromosome Location	chr3:51607424-51607425
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1480366	1.00[AMR][1000 genomes]
rs17051685	1.00[AMR][1000 genomes]
rs17051802	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4280628	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57019473	1.00[AMR][1000 genomes]
rs58075772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58807639	1.00[AMR][1000 genomes]
rs59307262	1.00[AMR][1000 genomes]
rs60497133	1.00[AMR][1000 genomes]
rs61452834	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943888	1.00[AMR][1000 genomes]
rs72945711	1.00[AMR][1000 genomes]
rs72945738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945741	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951454	1.00[AMR][1000 genomes]
rs72951466	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951489	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953404	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953419	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953421	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs753452	0.80[AFR][1000 genomes]
rs880477	1.00[AMR][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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv997264	chr3:51584056-51689648	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv536570	chr3:51584056-51689648	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv999553	chr3:51584056-51696052	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51574000-51615400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:51574000-51624800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:51574200-51616400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:51574400-51613800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:51574600-51624600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:51574800-51624800	Weak transcription	NH-A	brain
7	chr3:51575200-51615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:51578800-51624400	Weak transcription	Esophagus	oesophagus
9	chr3:51584200-51614200	Weak transcription	Aorta	Aorta
10	chr3:51585000-51615600	Weak transcription	NHEK	skin
11	chr3:51585200-51624400	Weak transcription	Brain Germinal Matrix	brain
12	chr3:51585800-51612400	Weak transcription	Fetal Thymus	thymus
13	chr3:51585800-51625000	Weak transcription	Colonic Mucosa	Colon
14	chr3:51587800-51624400	Weak transcription	Hela-S3	cervix
15	chr3:51588000-51612600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:51588000-51640000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:51588200-51612600	Weak transcription	Lung	lung
18	chr3:51589000-51612400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:51589200-51612400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:51590000-51611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:51591200-51612600	Weak transcription	Thymus	Thymus
22	chr3:51591400-51612200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:51593600-51615600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:51594000-51615600	Weak transcription	Osteobl	bone
25	chr3:51594200-51612200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:51594200-51612600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:51594200-51622800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:51594200-51622800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:51594400-51612600	Weak transcription	Ovary	ovary
30	chr3:51597200-51622800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:51598400-51612400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:51598400-51613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr3:51598400-51622800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:51598600-51614200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:51600800-51654600	Weak transcription	Stomach Mucosa	stomach
36	chr3:51601000-51615400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:51601000-51624600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr3:51601200-51640000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:51602200-51615600	Weak transcription	NHDF-Ad	bronchial
40	chr3:51602400-51612400	Weak transcription	Gastric	stomach
41	chr3:51602400-51615600	Weak transcription	K562	blood
42	chr3:51602400-51622800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:51602800-51612400	Weak transcription	Brain Substantia Nigra	brain
44	chr3:51602800-51612600	Weak transcription	Pancreas	Pancrea
45	chr3:51602800-51612600	Weak transcription	Spleen	Spleen
46	chr3:51602800-51615600	Weak transcription	Brain Angular Gyrus	brain
47	chr3:51602800-51615600	Weak transcription	Left Ventricle	heart
48	chr3:51602800-51615600	Weak transcription	HSMMtube	muscle
49	chr3:51602800-51619200	Weak transcription	Brain Anterior Caudate	brain
50	chr3:51602800-51619200	Weak transcription	Brain Cingulate Gyrus	brain

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