Variant report

Variant	rs270896
Chromosome Location	chr7:137366467-137366468
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: 32 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1019583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056089	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1723069	0.83[EUR][1000 genomes]
rs1834143	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1991084	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2113428	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs270891	0.91[MEX][hapmap]
rs270893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs270894	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];1.00[ASN][1000 genomes]
rs270895	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	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs270898	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs270899	0.87[CEU][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs270900	0.87[CEU][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs270901	0.87[CEU][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs270902	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs270904	0.87[CEU][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3778797	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3778798	0.90[EUR][1000 genomes]
rs3800624	0.91[CEU][hapmap];0.85[CHB][hapmap];0.84[MEX][hapmap];0.90[EUR][1000 genomes]
rs3800626	0.91[CEU][hapmap];0.85[CHB][hapmap];0.84[MEX][hapmap];0.88[EUR][1000 genomes]
rs3800637	0.81[CHB][hapmap]
rs4728420	0.95[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6948537	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6971978	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs6976725	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7457119	0.91[CEU][hapmap];0.85[CHB][hapmap];0.84[MEX][hapmap];0.87[EUR][1000 genomes]
rs7806658	0.80[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1812888	chr7:137283212-137366467	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs270896	ADCK2	cis	cerebellum	SCAN
rs270896	SLC13A4	cis	cerebellum	SCAN
rs270896	KIAA1549	cis	cerebellum	SCAN

Chromatin state (count:26 , 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	chr7:137365000-137366600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:137365000-137366800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:137365400-137366600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:137365600-137366600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:137365600-137368200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:137365600-137368200	Enhancers	HSMMtube	muscle
10	chr7:137365800-137366600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:137365800-137368400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:137365800-137368400	Enhancers	HSMM	muscle
13	chr7:137366000-137367000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:137366000-137367200	Enhancers	NH-A	brain
15	chr7:137366000-137368000	Enhancers	HMEC	breast
16	chr7:137366200-137366800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:137366400-137366800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:137366400-137366800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:137366400-137366800	Enhancers	NHDF-Ad	bronchial
20	chr7:137366400-137367000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:137366400-137367200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:137366400-137367400	Enhancers	Hela-S3	cervix
23	chr7:137366400-137367600	Flanking Active TSS	Osteobl	bone
24	chr7:137366400-137367800	Enhancers	NHLF	lung
25	chr7:137366400-137368400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:137366400-137368400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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