Variant report

Variant	rs17155971
Chromosome Location	chr7:27914104-27914105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10225163	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs10267854	0.86[CEU][hapmap]
rs10452749	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs10951184	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs16874393	0.95[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16874395	0.95[CEU][hapmap];0.85[AMR][1000 genomes]
rs17150570	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17150572	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs17155950	0.82[CEU][hapmap]
rs17155969	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4719908	0.83[CEU][hapmap]
rs57246973	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58721791	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58753113	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59454110	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6944251	0.87[CEU][hapmap]
rs6972821	0.82[CEU][hapmap]
rs7784038	0.86[CEU][hapmap]
rs7803227	0.83[CEU][hapmap]
rs7809735	0.82[CEU][hapmap]

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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17155971	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27897200-27915200	Weak transcription	Gastric	stomach
2	chr7:27904000-27916400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:27906200-27933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:27906600-27925400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:27907000-27930800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:27907600-27926000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:27908000-27935000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:27908200-27932600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:27908600-27917400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:27909400-27916600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:27909400-27923600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:27909400-27923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:27909400-27937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:27910200-27915200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:27911000-27923600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:27911400-27914200	Enhancers	Brain Angular Gyrus	brain
17	chr7:27911400-27914400	Enhancers	Fetal Lung	lung
18	chr7:27911400-27914600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:27911400-27914800	Enhancers	Adipose Nuclei	Adipose
20	chr7:27911400-27915200	Enhancers	Fetal Muscle Leg	muscle
21	chr7:27911600-27914200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:27911600-27914600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:27911600-27915000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:27911600-27915800	Enhancers	Colon Smooth Muscle	Colon
25	chr7:27911800-27915000	Enhancers	Brain Substantia Nigra	brain
26	chr7:27911800-27915400	Enhancers	Brain Hippocampus Middle	brain
27	chr7:27911800-27915400	Enhancers	NHDF-Ad	bronchial
28	chr7:27912000-27914400	Enhancers	Brain Anterior Caudate	brain
29	chr7:27912000-27914600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:27912000-27915000	Enhancers	Liver	Liver
31	chr7:27912000-27915000	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:27912400-27915000	Enhancers	Ovary	ovary
33	chr7:27912600-27914600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:27912600-27915400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:27912800-27915800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:27912800-27916600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:27912800-27916800	Enhancers	Pancreas	Pancrea
38	chr7:27913000-27914400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr7:27913000-27914400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:27913000-27914600	Enhancers	Colonic Mucosa	Colon
41	chr7:27913000-27914600	Enhancers	Left Ventricle	heart
42	chr7:27913000-27914600	Enhancers	Right Atrium	heart
43	chr7:27913000-27914800	Enhancers	Fetal Heart	heart
44	chr7:27913000-27914800	Enhancers	Small Intestine	intestine
45	chr7:27913000-27915400	Enhancers	Spleen	Spleen
46	chr7:27913200-27914400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:27913200-27914400	Enhancers	Duodenum Mucosa	Duodenum
48	chr7:27913200-27915000	Enhancers	Lung	lung
49	chr7:27913200-27915200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr7:27913400-27914400	Enhancers	Muscle Satellite Cultured Cells	--

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