Variant report

Variant	rs6956423
Chromosome Location	chr7:28032942-28032943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11761628	1.00[ASN][1000 genomes]
rs2391492	0.89[ASN][1000 genomes]
rs34079332	0.82[AFR][1000 genomes]
rs34714526	0.82[AFR][1000 genomes]
rs38509	0.95[ASN][1000 genomes]
rs3857729	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7384844	0.82[AFR][1000 genomes]
rs763896	1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs9648343	1.00[JPT][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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
rs6956423	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28002800-28034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:28013400-28034200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:28017600-28042400	Weak transcription	Aorta	Aorta
4	chr7:28022400-28036200	Weak transcription	Lung	lung
5	chr7:28027200-28045800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:28027800-28039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:28028600-28033000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:28029400-28034400	Weak transcription	Osteobl	bone
9	chr7:28030400-28033000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:28030600-28033400	Enhancers	Colon Smooth Muscle	Colon
11	chr7:28030600-28038600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:28030800-28033600	Enhancers	Brain Anterior Caudate	brain
13	chr7:28031000-28033000	Enhancers	Liver	Liver
14	chr7:28031000-28034200	Weak transcription	NH-A	brain
15	chr7:28031000-28044800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:28031000-28044800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr7:28031200-28034600	Enhancers	Brain Substantia Nigra	brain
18	chr7:28031200-28035000	Enhancers	Brain Hippocampus Middle	brain
19	chr7:28031200-28040200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:28031200-28054000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:28031400-28033000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:28031400-28033600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:28031600-28033200	Enhancers	Rectal Smooth Muscle	rectum
24	chr7:28031600-28033600	Enhancers	Adipose Nuclei	Adipose
25	chr7:28031600-28035600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:28031600-28039400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:28031800-28033400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr7:28031800-28035600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:28031800-28035800	Enhancers	NHDF-Ad	bronchial
30	chr7:28032000-28045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:28032200-28033400	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:28032400-28033000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:28032400-28033000	Enhancers	Fetal Brain Female	brain
34	chr7:28032400-28033000	Enhancers	Left Ventricle	heart
35	chr7:28032400-28033000	Enhancers	Pancreas	Pancrea
36	chr7:28032400-28033000	Enhancers	Dnd41	blood
37	chr7:28032400-28033200	Strong transcription	Primary B cells from cord blood	blood
38	chr7:28032400-28033200	Enhancers	Fetal Brain Male	brain
39	chr7:28032400-28033200	Enhancers	Ovary	ovary
40	chr7:28032400-28033400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr7:28032400-28033400	Enhancers	Psoas Muscle	Psoas
42	chr7:28032400-28033600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:28032400-28034200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:28032400-28036400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:28032600-28033000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:28032600-28033400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:28032600-28035600	Weak transcription	Fetal Stomach	stomach
48	chr7:28032600-28041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:28032800-28033000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:28032800-28033200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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