Variant report

Variant	rs6944527
Chromosome Location	chr7:137434853-137434854
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10215980	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10234581	0.88[CEU][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap]
rs1025085	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1025087	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11521066	0.84[CEU][hapmap]
rs11974351	0.81[CEU][hapmap]
rs11976084	0.84[CEU][hapmap]
rs12056089	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs13234743	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13235392	0.84[CEU][hapmap]
rs1345918	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1364396	0.81[CEU][hapmap]
rs1424371	0.86[YRI][hapmap]
rs1424372	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1834143	0.81[JPT][hapmap]
rs1991084	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2113428	0.80[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap]
rs33916081	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34025316	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3778797	0.81[JPT][hapmap]
rs3778803	0.84[CEU][hapmap]
rs3800636	0.85[ASW][hapmap];0.88[CEU][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3800637	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3800644	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3800645	0.84[CEU][hapmap]
rs3800649	0.81[CEU][hapmap]
rs3800653	0.83[CEU][hapmap]
rs4728420	0.81[JPT][hapmap]
rs6947142	0.84[CEU][hapmap]
rs6957797	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971978	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs6976725	0.81[JPT][hapmap]
rs7795441	0.84[CEU][hapmap]
rs7802342	0.84[CEU][hapmap]
rs7806658	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs9784934	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6944527	DGKI	cis	cerebellum	SCAN
rs6944527	ADCK2	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137416600-137438000	Weak transcription	NH-A	brain
2	chr7:137419400-137438200	Weak transcription	HSMM	muscle
3	chr7:137419600-137437800	Weak transcription	HSMMtube	muscle
4	chr7:137419800-137438000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:137430200-137438600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:137432200-137439000	Weak transcription	Osteobl	bone
7	chr7:137432400-137438200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:137432600-137437800	Weak transcription	Aorta	Aorta
9	chr7:137432600-137438800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:137432800-137438000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:137432800-137438000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:137432800-137438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:137432800-137438000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:137432800-137438200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:137433200-137437600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:137433400-137437600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:137433400-137439200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:137433600-137438200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:137434200-137437600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:137434200-137438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:137434400-137437800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:137434400-137437800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:137434400-137438200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:137434600-137435600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:137434600-137438200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:137434800-137435200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:137434800-137437800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:137434800-137437800	Weak transcription	Muscle Satellite Cultured Cells	--

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