Variant report

Variant	rs2108731
Chromosome Location	chr7:108240578-108240579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108227640..108230200-chr7:108238851..108241841,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1029707	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1029708	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11767037	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11767071	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11773524	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11773875	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17341955	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17426638	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2215141	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34505662	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4298438	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55760662	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58954269	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466244	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67940245	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6945788	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6949766	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6951751	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs726608	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7790890	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs975124	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9768342	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9918599	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][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	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	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2108731	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108234800-108244000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:108239800-108240800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:108239800-108244200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:108239800-108244200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:108240000-108240800	Enhancers	Pancreas	Pancrea
6	chr7:108240000-108244200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:108240000-108244200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:108240200-108243000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:108240200-108244000	Weak transcription	Fetal Brain Female	brain
10	chr7:108240400-108242000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:108240400-108244400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:108240400-108245600	Weak transcription	Fetal Brain Male	brain

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