Variant report

Variant	rs10234581
Chromosome Location	chr7:137404781-137404782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10215980	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1025085	0.84[EUR][1000 genomes]
rs1025087	0.88[CEU][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs11521066	0.88[CEU][hapmap]
rs11974351	0.92[CEU][hapmap]
rs11976084	0.88[CEU][hapmap]
rs12056089	0.91[CHB][hapmap]
rs12707367	0.86[CHB][hapmap]
rs13234743	1.00[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13235392	0.87[CEU][hapmap]
rs1345918	0.92[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1364396	0.92[CEU][hapmap]
rs1424370	0.86[CHB][hapmap]
rs1424371	0.89[CHB][hapmap]
rs1424372	0.92[CEU][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1834143	0.82[CHB][hapmap]
rs1991084	0.91[CHB][hapmap]
rs2113428	0.91[CHB][hapmap]
rs33916081	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34025316	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3778797	0.82[CHB][hapmap]
rs3778803	0.88[CEU][hapmap]
rs3800636	1.00[CEU][hapmap];0.95[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3800637	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3800644	0.96[CEU][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3800645	0.88[CEU][hapmap]
rs3800649	0.92[CEU][hapmap]
rs3800653	0.87[CEU][hapmap]
rs4728420	0.82[CHB][hapmap]
rs4732263	0.86[CHB][hapmap]
rs4732264	0.86[CHB][hapmap]
rs6944527	0.88[CEU][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs6947142	0.88[CEU][hapmap]
rs6957797	0.92[CEU][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6971978	0.91[CHB][hapmap]
rs6976725	0.82[CHB][hapmap]
rs7795441	0.88[CEU][hapmap]
rs7802342	0.88[CEU][hapmap]
rs7806658	0.91[CHB][hapmap]
rs7806810	0.86[CHB][hapmap]
rs9784934	0.95[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv464731	chr7:137356651-137404781	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv608466	chr7:137356651-137404781	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10234581	ADCK2	cis	cerebellum	SCAN
rs10234581	DGKI	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137400800-137404800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:137400800-137405400	Weak transcription	Right Atrium	heart
3	chr7:137403200-137416200	Weak transcription	HSMMtube	muscle
4	chr7:137403400-137404800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:137403400-137404800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:137403400-137407800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:137403400-137412200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:137403400-137413000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:137403400-137413200	Weak transcription	Aorta	Aorta
10	chr7:137403400-137416000	Weak transcription	HSMM	muscle
11	chr7:137403600-137407800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:137403600-137408000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:137403800-137409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:137403800-137415800	Weak transcription	Osteobl	bone
15	chr7:137404000-137406400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:137404000-137409800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:137404400-137404800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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