Variant report

Variant	rs12700664
Chromosome Location	chr7:25875151-25875152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25874523..25877275-chr7:25878833..25881768,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10232819	0.81[ASN][1000 genomes]
rs11976790	0.81[ASN][1000 genomes]
rs12700666	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700668	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13231733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376527	0.81[ASN][1000 genomes]
rs1812673	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs286701	0.87[EUR][1000 genomes]
rs4722531	0.81[ASN][1000 genomes]
rs6461887	0.81[ASN][1000 genomes]
rs6958350	0.81[ASN][1000 genomes]
rs6961848	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793216	0.81[ASN][1000 genomes]
rs979165	0.81[ASN][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	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830928	chr7:25820147-25965014	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12700664	IL6	cis	cerebellum	SCAN
rs12700664	SKAP2	cis	cerebellum	SCAN
rs12700664	NPVF	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25869600-25881800	Weak transcription	Right Atrium	heart
2	chr7:25871200-25885400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:25871800-25879400	Weak transcription	Psoas Muscle	Psoas
4	chr7:25872000-25876000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:25872000-25881600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:25872200-25881400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:25872200-25886200	Weak transcription	NHLF	lung
8	chr7:25872400-25885200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:25873200-25876000	Weak transcription	Fetal Kidney	kidney
10	chr7:25873400-25876200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:25873600-25876600	Weak transcription	Aorta	Aorta
12	chr7:25873800-25875200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:25873800-25875400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:25874000-25879200	Weak transcription	Fetal Heart	heart
15	chr7:25874200-25875200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:25874400-25875200	Enhancers	NHEK	skin
17	chr7:25874400-25875400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:25874400-25875400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:25874400-25875400	Enhancers	HSMM	muscle
20	chr7:25874600-25875200	Enhancers	HMEC	breast
21	chr7:25874600-25875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:25874600-25875400	Enhancers	Osteobl	bone
23	chr7:25874800-25875800	Weak transcription	Fetal Stomach	stomach
24	chr7:25875000-25878800	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:25875000-25881200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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