Variant report

Variant	rs13227391
Chromosome Location	chr7:105441309-105441310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105434847..105438476-chr7:105439556..105442590,4	K562	blood:
2	chr7:105436100..105438476-chr7:105440003..105442392,2	K562	blood:
3	chr7:105438802..105440632-chr7:105441148..105443801,2	MCF-7	breast:
4	chr7:105440893..105443380-chr7:105445817..105448313,3	K562	blood:
5	chr7:105408610..105410382-chr7:105440974..105443928,2	MCF-7	breast:
6	chr7:105440792..105442461-chr7:105443964..105445643,2	K562	blood:
7	chr7:105427683..105429213-chr7:105441124..105443053,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1209199	0.93[CHB][hapmap];0.96[CHD][hapmap];0.83[JPT][hapmap]
rs13229009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13231470	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17152148	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1981603	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2010406	0.93[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs2010419	0.93[CHB][hapmap];0.96[CHD][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs35022646	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4730107	0.90[ASN][1000 genomes]
rs71564737	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs917274	1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[JPT][hapmap];0.88[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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13227391	THAP5	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105414800-105443600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:105417200-105441800	Weak transcription	HepG2	liver
3	chr7:105418400-105446400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:105422000-105452000	Weak transcription	Colonic Mucosa	Colon
5	chr7:105429200-105446000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:105430000-105447000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:105430200-105479200	Weak transcription	Aorta	Aorta
8	chr7:105433000-105444200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:105434200-105446000	Weak transcription	Brain Angular Gyrus	brain
10	chr7:105435800-105445400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:105435800-105446600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr7:105435800-105447200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:105436200-105446600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:105436800-105447200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:105437400-105442200	Weak transcription	Liver	Liver
16	chr7:105437600-105445800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:105438000-105446400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:105438400-105443600	Weak transcription	Small Intestine	intestine
19	chr7:105439000-105442800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:105439000-105443400	Weak transcription	Fetal Intestine Large	intestine
21	chr7:105439000-105443600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:105439000-105443600	Weak transcription	Gastric	stomach
23	chr7:105439000-105445400	Weak transcription	Pancreas	Pancrea
24	chr7:105439000-105446800	Weak transcription	Spleen	Spleen
25	chr7:105439400-105441800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr7:105439600-105441400	Enhancers	HSMMtube	muscle
27	chr7:105439600-105443200	Weak transcription	Stomach Mucosa	stomach
28	chr7:105439600-105444200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:105439800-105441400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:105439800-105441600	Enhancers	Osteobl	bone
31	chr7:105439800-105443800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:105439800-105445200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:105439800-105447600	Enhancers	Colon Smooth Muscle	Colon
34	chr7:105440000-105441400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:105440000-105441400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:105440000-105441400	Enhancers	Fetal Heart	heart
37	chr7:105440000-105441400	Enhancers	NH-A	brain
38	chr7:105440000-105441400	Enhancers	NHDF-Ad	bronchial
39	chr7:105440000-105441600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:105440000-105441800	Enhancers	NHLF	lung
41	chr7:105440000-105442600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:105440000-105446000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:105440200-105441400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr7:105440200-105441600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:105440200-105441600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:105440200-105442800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:105440200-105442800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:105440200-105444600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:105440200-105445800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:105440200-105446000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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