Variant report

Variant	rs270895
Chromosome Location	chr7:137366798-137366799
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	chr7:137358034..137360973-chr7:137366222..137368060,2	K562	blood:
2	chr7:137364114..137367092-chr7:137379026..137381477,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1019583	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12707367	0.81[CHB][hapmap]
rs1424370	0.81[CHB][hapmap]
rs1424371	0.83[CHB][hapmap]
rs1723069	0.81[EUR][1000 genomes]
rs1834143	0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs270891	0.87[MEX][hapmap]
rs270893	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs270894	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs270896	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[GIH][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs270897	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs270898	0.91[CEU][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs270899	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs270900	0.87[CEU][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs270901	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs270902	0.90[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs270904	0.87[CEU][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3778797	0.87[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs3778798	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800624	0.91[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3800626	0.91[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4728420	0.87[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4732263	0.81[CHB][hapmap]
rs4732264	0.81[CHB][hapmap]
rs6948537	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6976725	0.87[CEU][hapmap];0.85[CHB][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7457119	0.91[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7806810	0.81[CHB][hapmap]

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
rs270895	SLC13A4	cis	cerebellum	SCAN
rs270895	ADCK2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137355800-137370600	Weak transcription	Aorta	Aorta
2	chr7:137357000-137367600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:137364800-137370000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:137365000-137366800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:137365600-137368200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:137365600-137368200	Enhancers	HSMMtube	muscle
7	chr7:137365800-137368400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:137365800-137368400	Enhancers	HSMM	muscle
9	chr7:137366000-137367000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:137366000-137367200	Enhancers	NH-A	brain
11	chr7:137366000-137368000	Enhancers	HMEC	breast
12	chr7:137366200-137366800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:137366400-137366800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:137366400-137366800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:137366400-137366800	Enhancers	NHDF-Ad	bronchial
16	chr7:137366400-137367000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:137366400-137367200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:137366400-137367400	Enhancers	Hela-S3	cervix
19	chr7:137366400-137367600	Flanking Active TSS	Osteobl	bone
20	chr7:137366400-137367800	Enhancers	NHLF	lung
21	chr7:137366400-137368400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:137366400-137368400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:137366600-137366800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:137366600-137366800	Enhancers	Right Atrium	heart
25	chr7:137366600-137367000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:137366600-137367000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:137366600-137367000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:137366600-137367000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr7:137366600-137367000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:137366600-137367400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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