Variant report

Variant	rs4703805
Chromosome Location	chr5:79503351-79503352
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79501965..79503806-chr5:79509308..79510896,2	K562	blood:
2	chr5:79496645..79499185-chr5:79500961..79504091,3	MCF-7	breast:
3	chr5:79494988..79497177-chr5:79500013..79503838,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10036776	0.87[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10039470	0.86[EUR][1000 genomes]
rs10055268	0.92[ASN][1000 genomes]
rs10061215	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12519047	0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs13178249	0.80[EUR][1000 genomes]
rs13354808	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs13355674	0.85[EUR][1000 genomes]
rs13356941	0.83[EUR][1000 genomes]
rs16877612	0.87[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs4235717	0.92[ASN][1000 genomes]
rs4704633	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4704634	0.82[CHB][hapmap]
rs60316437	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60823172	0.85[EUR][1000 genomes]
rs66738727	0.83[ASN][1000 genomes]
rs6879270	0.87[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4703805	TMEM167A	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79490800-79513800	Weak transcription	Fetal Kidney	kidney
2	chr5:79492000-79504200	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:79492200-79506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:79495200-79507800	Weak transcription	Right Ventricle	heart
5	chr5:79495600-79503600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:79497000-79506800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr5:79497000-79508800	Enhancers	Brain Substantia Nigra	brain
8	chr5:79497200-79505400	Enhancers	Brain Angular Gyrus	brain
9	chr5:79497400-79515000	Weak transcription	Esophagus	oesophagus
10	chr5:79497800-79503600	Weak transcription	Fetal Brain Female	brain
11	chr5:79497800-79508400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:79498600-79520800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:79498600-79521200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:79498800-79504000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:79498800-79509800	Enhancers	Brain Hippocampus Middle	brain
16	chr5:79498800-79514000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:79499000-79503800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:79499000-79506600	Weak transcription	Lung	lung
19	chr5:79499000-79507800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:79499000-79509200	Weak transcription	Spleen	Spleen
21	chr5:79499000-79513200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:79499000-79517800	Weak transcription	Aorta	Aorta
23	chr5:79499400-79507000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:79499600-79503600	Enhancers	Osteobl	bone
25	chr5:79499800-79505600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:79500000-79505600	Weak transcription	Fetal Stomach	stomach
27	chr5:79500000-79509200	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:79500000-79509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:79500000-79537600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:79500200-79506200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:79500200-79512000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:79500400-79503800	Weak transcription	Ovary	ovary
33	chr5:79500400-79504600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:79500400-79506800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:79500400-79508200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:79500400-79510400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:79500600-79505200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:79501000-79503400	Enhancers	Liver	Liver
39	chr5:79501000-79505200	Weak transcription	Left Ventricle	heart
40	chr5:79501000-79506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:79501000-79506800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:79501000-79508000	Enhancers	Brain Anterior Caudate	brain
43	chr5:79501000-79509200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:79501000-79510600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr5:79501000-79512000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr5:79501000-79513200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:79501200-79503800	Enhancers	Primary T cells from cord blood	blood
48	chr5:79501200-79504400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:79501200-79506400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:79501200-79506600	Weak transcription	Gastric	stomach

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