Variant report

Variant	rs3800644
Chromosome Location	chr7:137421386-137421387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137418322..137420614-chr7:137421011..137423413,2	K562	blood:
2	chr7:137419706..137421420-chr7:137423874..137426837,2	K562	blood:
3	chr7:137416056..137418728-chr7:137420434..137423380,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10215980	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10234581	0.96[CEU][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs1025085	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1025087	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11521066	0.92[CEU][hapmap]
rs11974351	0.88[CEU][hapmap]
rs11976084	0.92[CEU][hapmap]
rs12056089	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12707367	0.81[CHB][hapmap]
rs13234743	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13235392	0.92[CEU][hapmap]
rs1345918	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1364396	0.88[CEU][hapmap]
rs1424370	0.81[CHB][hapmap]
rs1424371	0.86[YRI][hapmap]
rs1424372	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1834143	0.81[JPT][hapmap]
rs1991084	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2113428	0.85[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap]
rs33916081	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34025316	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3778797	0.81[JPT][hapmap]
rs3778803	0.92[CEU][hapmap]
rs3800636	0.85[ASW][hapmap];0.96[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3800637	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3800645	0.92[CEU][hapmap]
rs3800649	0.88[CEU][hapmap]
rs3800653	0.91[CEU][hapmap]
rs4728420	0.81[JPT][hapmap]
rs4732263	0.81[CHB][hapmap]
rs4732264	0.81[CHB][hapmap]
rs6944527	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]
rs6947142	0.92[CEU][hapmap]
rs6957797	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971978	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6976725	0.81[JPT][hapmap]
rs7795441	0.92[CEU][hapmap]
rs7802342	0.92[CEU][hapmap]
rs7806658	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7806810	0.81[CHB][hapmap]
rs9784934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs3800644	ADCK2	cis	cerebellum	SCAN
rs3800644	DGKI	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137411000-137424800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:137413400-137432200	Weak transcription	Aorta	Aorta
3	chr7:137416600-137424400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:137416600-137438000	Weak transcription	NH-A	brain
5	chr7:137419200-137431000	Weak transcription	Osteobl	bone
6	chr7:137419400-137424800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:137419400-137438200	Weak transcription	HSMM	muscle
8	chr7:137419600-137429400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:137419600-137437800	Weak transcription	HSMMtube	muscle
10	chr7:137419800-137438000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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