Variant report

Variant	rs1391095
Chromosome Location	chr4:143294023-143294024
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11938760	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13133199	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1391097	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1497386	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs1497388	0.86[CEU][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap]
rs17016027	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]
rs2029990	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2130253	0.86[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2646095	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs3775707	0.95[CEU][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4626289	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6838117	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs71608480	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1391095	ZNF827	cis	cerebellum	SCAN
rs1391095	ZNF827	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
2	chr4:143278400-143294200	Weak transcription	Stomach Mucosa	stomach
3	chr4:143285000-143294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr4:143285200-143298400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:143288800-143296200	Weak transcription	A549	lung
6	chr4:143289000-143295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:143289000-143300600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:143289200-143300000	Weak transcription	NH-A	brain
9	chr4:143290200-143296400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:143290200-143298400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:143290400-143305800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:143290600-143296400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:143290600-143296600	Weak transcription	Primary T cells from cord blood	blood
15	chr4:143290600-143296600	Weak transcription	Dnd41	blood
16	chr4:143290800-143300000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:143291000-143295600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:143291200-143299000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:143292200-143296200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:143292400-143294200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr4:143293200-143294200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:143293400-143294800	Enhancers	Fetal Heart	heart
23	chr4:143293400-143295400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr4:143293400-143295400	Enhancers	HSMMtube	muscle
25	chr4:143293400-143297000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:143293400-143302800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr4:143293600-143294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:143293600-143295400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:143293600-143296600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:143293600-143297000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:143293800-143294200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr4:143293800-143294200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:143293800-143294200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:143293800-143294200	Enhancers	Psoas Muscle	Psoas
35	chr4:143293800-143294200	Enhancers	Small Intestine	intestine
36	chr4:143293800-143294400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:143293800-143294800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:143293800-143294800	Enhancers	Aorta	Aorta
39	chr4:143293800-143295400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:143293800-143295400	Enhancers	NHDF-Ad	bronchial
41	chr4:143293800-143295400	Enhancers	NHLF	lung
42	chr4:143293800-143295600	Enhancers	HMEC	breast
43	chr4:143293800-143295600	Enhancers	HSMM	muscle
44	chr4:143293800-143295600	Enhancers	Osteobl	bone
45	chr4:143293800-143297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:143293800-143297000	Enhancers	NHEK	skin
47	chr4:143293800-143298000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:143293800-143298400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr4:143294000-143294200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:143294000-143294200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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