Variant report

Variant	rs8030696
Chromosome Location	chr15:43077136-43077137
allele	C/T
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:22)

rs_ID	r²[population]
rs11070377	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070378	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632809	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11854550	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16957167	0.89[ASN][1000 genomes]
rs1915242	0.87[AFR][1000 genomes]
rs1915243	0.87[AFR][1000 genomes]
rs2139655	0.90[EUR][1000 genomes]
rs28722903	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34302400	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35554267	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6493065	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7181238	0.83[EUR][1000 genomes]
rs73410981	0.90[AFR][1000 genomes]
rs8024266	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8028167	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8042738	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8042980	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9920092	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9920562	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9920624	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9920935	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
3	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases
4	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43030000-43093600	Weak transcription	Colonic Mucosa	Colon
2	chr15:43051800-43083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:43053600-43112200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:43054000-43080200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:43054800-43146000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:43056800-43116800	Weak transcription	HepG2	liver
7	chr15:43057600-43107000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:43060800-43122200	Weak transcription	GM12878-XiMat	blood
9	chr15:43062600-43087800	Weak transcription	K562	blood
10	chr15:43062800-43088600	Weak transcription	NHDF-Ad	bronchial
11	chr15:43063000-43083200	Weak transcription	Fetal Intestine Small	intestine
12	chr15:43063000-43093000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:43063400-43093600	Weak transcription	Esophagus	oesophagus
14	chr15:43063400-43136200	Weak transcription	Psoas Muscle	Psoas
15	chr15:43064000-43114200	Weak transcription	Fetal Kidney	kidney
16	chr15:43064800-43150800	Weak transcription	HSMM	muscle
17	chr15:43066400-43095600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:43066600-43088600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:43066600-43097600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:43067400-43147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:43067600-43078400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:43067600-43092800	Weak transcription	Brain Germinal Matrix	brain
23	chr15:43067800-43093000	Weak transcription	Fetal Brain Female	brain
24	chr15:43067800-43095200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr15:43068000-43077800	Weak transcription	HMEC	breast
26	chr15:43068000-43093000	Weak transcription	Spleen	Spleen
27	chr15:43068400-43089200	Weak transcription	HUVEC	blood vessel
28	chr15:43068400-43093000	Weak transcription	Aorta	Aorta
29	chr15:43068400-43093600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:43068800-43089600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr15:43068800-43092600	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:43069000-43079200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:43069000-43086400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:43069000-43092800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr15:43069000-43093400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:43072600-43078200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:43073400-43078400	Weak transcription	NH-A	brain
38	chr15:43075200-43092600	Weak transcription	Fetal Heart	heart
39	chr15:43075200-43093600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:43075200-43143800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:43075400-43135800	Weak transcription	HSMMtube	muscle
42	chr15:43075600-43079200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:43075600-43080800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:43075600-43084800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:43075600-43084800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:43075600-43085000	Weak transcription	Brain Angular Gyrus	brain
47	chr15:43075600-43086400	Weak transcription	Brain Anterior Caudate	brain
48	chr15:43075600-43086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:43075600-43088600	Weak transcription	NHEK	skin
50	chr15:43075600-43093000	Weak transcription	Brain Cingulate Gyrus	brain

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