Variant report

Variant	rs684949
Chromosome Location	chr18:9695769-9695770
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9695089..9696834-chr18:9708038..9709786,2	MCF-7	breast:
2	chr18:9686215..9688324-chr18:9694336..9696864,2	K562	blood:
3	chr18:9695617..9697273-chr18:9702210..9704109,2	K562	blood:
4	chr18:9694417..9696619-chr18:9698346..9700345,3	K562	blood:
5	chr18:9612295..9614829-chr18:9694024..9696400,2	K562	blood:
6	chr18:9694556..9698075-chr18:9707259..9709265,3	K562	blood:
7	chr18:9679087..9682137-chr18:9694280..9697577,3	K562	blood:
8	chr18:9690985..9692984-chr18:9695409..9697746,2	MCF-7	breast:
9	chr18:9686824..9689922-chr18:9694336..9698483,3	K562	blood:
10	chr18:9695119..9697370-chr18:9698845..9701098,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264644	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12605605	0.85[ASN][1000 genomes]
rs12955382	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2096820	0.86[ASN][1000 genomes]
rs2105648	0.90[ASN][1000 genomes]
rs2105649	0.90[ASN][1000 genomes]
rs4447487	0.87[ASN][1000 genomes]
rs57545071	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587351	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs587857	0.90[ASN][1000 genomes]
rs589214	0.90[ASN][1000 genomes]
rs591067	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs603659	0.92[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs626922	0.90[ASN][1000 genomes]
rs634056	0.91[ASN][1000 genomes]
rs649999	0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs650984	0.91[ASN][1000 genomes]
rs660974	0.90[ASN][1000 genomes]
rs683639	0.80[ASN][1000 genomes]
rs695129	0.94[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9685600-9695800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr18:9685600-9696800	Weak transcription	Right Atrium	heart
3	chr18:9691000-9700000	Weak transcription	Fetal Lung	lung
4	chr18:9691400-9696200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:9693600-9695800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr18:9694800-9697000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr18:9695000-9695800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:9695200-9696200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:9695200-9696200	Enhancers	Fetal Muscle Trunk	muscle
10	chr18:9695200-9696400	Enhancers	Primary B cells from cord blood	blood
11	chr18:9695200-9696600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr18:9695200-9697400	Enhancers	Placenta	Placenta
13	chr18:9695200-9697800	Enhancers	Ovary	ovary
14	chr18:9695400-9696400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr18:9695400-9696400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:9695400-9696600	Enhancers	Primary hematopoietic stem cells	blood
17	chr18:9695400-9696600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr18:9695400-9697000	Enhancers	Fetal Muscle Leg	muscle
19	chr18:9695400-9706600	Weak transcription	Lung	lung
20	chr18:9695600-9696000	Enhancers	Fetal Stomach	stomach
21	chr18:9695600-9696600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:9695600-9697400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:9695600-9700000	Weak transcription	K562	blood

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