Variant report

Variant	rs9956612
Chromosome Location	chr18:8999233-8999234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8997453..9000421-chr18:9008613..9011435,4	K562	blood:
2	chr18:8998101..9000276-chr18:9132895..9136120,3	K562	blood:
3	chr18:8998776..9001025-chr18:9134004..9135703,2	K562	blood:
4	chr18:8998136..9000342-chr18:9000567..9002261,2	K562	blood:

Variant related genes	Relation type
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11663875	0.98[ASN][1000 genomes]
rs12605735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12605754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607230	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1893146	0.89[ASN][1000 genomes]
rs2032165	0.90[ASN][1000 genomes]
rs28449557	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28667793	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4798746	0.90[ASN][1000 genomes]
rs60539038	0.98[ASN][1000 genomes]
rs62087094	0.98[ASN][1000 genomes]
rs66469248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66781209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67217398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67743220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7236251	0.95[ASN][1000 genomes]
rs72942761	0.98[ASN][1000 genomes]
rs72942780	0.90[EUR][1000 genomes]
rs9947345	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9954967	0.89[ASN][1000 genomes]
rs9967281	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8997200-9001600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:8997800-8999400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:8998400-9001000	Enhancers	NHDF-Ad	bronchial
4	chr18:8998400-9002000	Enhancers	Colon Smooth Muscle	Colon
5	chr18:8998600-8999400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:8998600-8999400	Enhancers	Stomach Mucosa	stomach
7	chr18:8998600-8999400	Flanking Active TSS	K562	blood
8	chr18:8998600-8999400	Enhancers	NH-A	brain
9	chr18:8998600-8999400	Enhancers	NHLF	lung
10	chr18:8998600-8999600	Enhancers	Liver	Liver
11	chr18:8998600-8999800	Enhancers	Hela-S3	cervix
12	chr18:8998600-9000200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr18:8998600-9001600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:8998600-9001600	Enhancers	Osteobl	bone
15	chr18:8998600-9001800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:8998600-9002000	Enhancers	Rectal Smooth Muscle	rectum
17	chr18:8998800-8999400	Enhancers	A549	lung
18	chr18:8998800-8999600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:8999000-8999400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:8999000-8999400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr18:8999000-8999400	Enhancers	HSMMtube	muscle
22	chr18:8999000-8999600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr18:8999000-9000000	Weak transcription	Adipose Nuclei	Adipose
24	chr18:8999000-9000400	Weak transcription	Aorta	Aorta
25	chr18:8999200-8999400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr18:8999200-8999400	Bivalent Enhancer	Fetal Lung	lung
27	chr18:8999200-9000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:8999200-9000400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:8999200-9000600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr18:8999200-9000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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