Variant report

Variant	rs17155335
Chromosome Location	chr7:107889683-107889684
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107874811..107876975-chr7:107889006..107891244,2	K562	blood:
2	chr7:107889555..107891760-chr7:107925759..107927489,2	MCF-7	breast:
3	chr7:107887211..107889896-chr7:108095081..108098683,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10487842	0.90[CEU][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs10487843	0.90[CEU][hapmap];0.81[CHD][hapmap];0.97[TSI][hapmap]
rs10953560	0.90[CEU][hapmap]
rs11980184	0.85[CEU][hapmap]
rs11980771	0.95[CEU][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs11984362	0.89[CEU][hapmap]
rs12531607	0.83[MEX][hapmap]
rs12534073	0.90[CEU][hapmap];0.89[CHD][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap]
rs12536606	0.84[EUR][1000 genomes]
rs12538125	0.89[CEU][hapmap];0.89[CHD][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs12670135	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1269645	0.81[ASN][1000 genomes]
rs1269649	0.80[ASN][1000 genomes]
rs1269658	0.91[JPT][hapmap]
rs12705439	0.90[CEU][hapmap]
rs13237289	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs13242621	0.90[CEU][hapmap];0.94[TSI][hapmap]
rs13245910	0.81[CEU][hapmap]
rs13247108	0.84[EUR][1000 genomes]
rs1548950	0.85[EUR][1000 genomes]
rs17155187	0.89[CEU][hapmap]
rs17155196	0.90[CEU][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap]
rs17331230	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs2111203	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2193254	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs2267876	0.95[CEU][hapmap]
rs2267877	0.82[EUR][1000 genomes]
rs2267878	0.95[CEU][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs2272617	0.90[CEU][hapmap];0.89[CHD][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap]
rs2284284	0.86[CEU][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299992	0.89[CEU][hapmap]
rs2299999	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2300000	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs2300002	0.84[EUR][1000 genomes]
rs34723270	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34754517	0.88[EUR][1000 genomes]
rs3819747	0.81[AMR][1000 genomes]
rs55843101	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6964282	0.88[EUR][1000 genomes]
rs6970096	0.82[AMR][1000 genomes]
rs73199565	0.85[EUR][1000 genomes]
rs7776972	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7784186	0.90[CEU][hapmap]
rs7789291	0.90[CEU][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs7795834	0.95[CEU][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7809003	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs926146	0.80[AMR][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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17155335	THAP5	Cis_1M	lymphoblastoid	RTeQTL
rs17155335	RINT1	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107884800-107890600	Weak transcription	Brain Substantia Nigra	brain
2	chr7:107886000-107891200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:107886800-107890200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:107887200-107890600	Weak transcription	Right Atrium	heart
5	chr7:107887200-107891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:107887400-107889800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:107887400-107890200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:107887400-107892000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:107887400-107892000	Weak transcription	Pancreas	Pancrea
10	chr7:107887400-107893800	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:107887400-107894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:107887400-107925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:107887600-107890600	Weak transcription	Esophagus	oesophagus
14	chr7:107887800-107894000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:107888000-107906800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:107888400-107892000	Weak transcription	HSMMtube	muscle
17	chr7:107888400-107892200	Weak transcription	HSMM	muscle
18	chr7:107888600-107892000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:107888600-107892000	Weak transcription	K562	blood
20	chr7:107888800-107890600	Enhancers	Fetal Kidney	kidney
21	chr7:107889000-107890000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:107889000-107890000	Enhancers	Brain Anterior Caudate	brain
23	chr7:107889000-107890200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:107889000-107890800	Enhancers	HepG2	liver
25	chr7:107889200-107889800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:107889200-107889800	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:107889400-107890600	Enhancers	Fetal Intestine Large	intestine
28	chr7:107889400-107892000	Weak transcription	Brain Angular Gyrus	brain
29	chr7:107889400-107893800	Weak transcription	HMEC	breast
30	chr7:107889400-107894200	Weak transcription	Osteobl	bone
31	chr7:107889600-107889800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:107889600-107889800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr7:107889600-107889800	Enhancers	A549	lung
34	chr7:107889600-107890000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:107889600-107892000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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