Variant report

Variant	rs17016027
Chromosome Location	chr4:143297732-143297733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10006795	0.81[GIH][hapmap]
rs11938760	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs13133199	0.94[ASN][1000 genomes]
rs1391095	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1391097	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1497386	0.92[JPT][hapmap]
rs1497388	0.89[GIH][hapmap];0.92[JPT][hapmap]
rs1982965	0.81[GIH][hapmap]
rs2029990	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs2130253	0.91[CHB][hapmap];0.96[ASN][1000 genomes]
rs2646095	1.00[CHB][hapmap]
rs3775707	0.83[JPT][hapmap]
rs4626289	0.91[ASN][1000 genomes]
rs6838117	0.92[JPT][hapmap]
rs71608480	0.94[ASN][1000 genomes]
rs7696969	0.81[GIH][hapmap]
rs977619	0.84[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17016027	ZNF827	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
2	chr4:143285200-143298400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:143289000-143300600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:143289200-143300000	Weak transcription	NH-A	brain
5	chr4:143290200-143298400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:143290400-143305800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:143290800-143300000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:143291200-143299000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:143293400-143302800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:143293800-143298000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:143293800-143298400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr4:143294200-143299600	Weak transcription	Right Ventricle	heart
14	chr4:143294200-143300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:143294200-143305400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:143294800-143299000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:143294800-143299400	Weak transcription	Aorta	Aorta
18	chr4:143294800-143299400	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:143295000-143299800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:143295200-143305000	Weak transcription	Small Intestine	intestine
21	chr4:143295400-143298600	Weak transcription	HSMMtube	muscle
22	chr4:143295400-143298600	Weak transcription	NHLF	lung
23	chr4:143295400-143299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:143295400-143300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:143295400-143301400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr4:143295600-143298200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:143295600-143299200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:143295600-143299200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:143295600-143299600	Weak transcription	Stomach Mucosa	stomach
30	chr4:143296000-143301800	Enhancers	Fetal Heart	heart
31	chr4:143296200-143297800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:143296200-143300600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:143296600-143297800	Enhancers	Primary T cells from cord blood	blood
34	chr4:143296600-143299200	Enhancers	Dnd41	blood
35	chr4:143296600-143299600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:143296600-143310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:143296800-143298400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:143296800-143298600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:143296800-143298600	Weak transcription	Osteobl	bone
40	chr4:143296800-143299000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:143296800-143301000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:143297000-143297800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:143297000-143298200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:143297000-143299000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:143297000-143299000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:143297000-143299000	Weak transcription	NHDF-Ad	bronchial
47	chr4:143297000-143299000	Weak transcription	NHEK	skin
48	chr4:143297000-143300400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:143297000-143300400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:143297000-143300400	Weak transcription	Fetal Intestine Small	intestine

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