Variant report

Variant	rs4896469
Chromosome Location	chr6:139843787-139843788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:139842023..139844325-chr6:139853923..139855853,2	K562	blood:
2	chr6:139694016..139698110-chr6:139843661..139847617,3	K562	blood:
3	chr6:139693301..139695661-chr6:139842764..139846349,4	K562	blood:
4	chr6:139843608..139846109-chr6:139850939..139853021,2	MCF-7	breast:
5	chr6:139841309..139844130-chr6:140279796..140281485,2	K562	blood:
6	chr6:139839378..139842332-chr6:139842713..139845287,3	K562	blood:
7	chr6:139836503..139839268-chr6:139841620..139844665,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3861397	0.91[EUR][1000 genomes]
rs4896468	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs590856	0.89[CHB][hapmap];0.87[ASN][1000 genomes]
rs632057	0.85[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap]
rs636202	0.89[CHB][hapmap];0.87[ASN][1000 genomes]
rs6899949	0.92[YRI][hapmap]
rs9800462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4896469	NMBR	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139832000-139855200	Weak transcription	Right Atrium	heart
2	chr6:139838000-139844000	Weak transcription	Hela-S3	cervix
3	chr6:139840400-139844400	Enhancers	NHEK	skin
4	chr6:139840400-139844800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:139840800-139855200	Weak transcription	Pancreas	Pancrea
6	chr6:139841000-139844800	Enhancers	HMEC	breast
7	chr6:139841000-139854600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:139841400-139843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:139841600-139849400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:139841600-139853000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:139842000-139846200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:139842600-139854800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:139842600-139861200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:139843400-139843800	Enhancers	Placenta	Placenta
15	chr6:139843400-139844400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:139843400-139844400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:139843600-139843800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:139843600-139843800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:139843600-139843800	Enhancers	Adipose Nuclei	Adipose
20	chr6:139843600-139843800	Enhancers	Esophagus	oesophagus
21	chr6:139843600-139843800	Enhancers	Fetal Muscle Leg	muscle
22	chr6:139843600-139843800	Enhancers	Lung	lung
23	chr6:139843600-139844000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:139843600-139844000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:139843600-139844000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:139843600-139844000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:139843600-139844000	Enhancers	NHLF	lung
28	chr6:139843600-139844000	Enhancers	Osteobl	bone
29	chr6:139843600-139844200	Enhancers	Fetal Heart	heart
30	chr6:139843600-139844400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:139843600-139844400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:139843600-139844400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:139843600-139844400	Enhancers	NHDF-Ad	bronchial

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