Variant report

Variant	rs1178344
Chromosome Location	chr7:18218278-18218279
allele	G/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:18218078..18219602-chr7:18220654..18223400,2	K562	blood:
2	chr7:18217240..18219162-chr7:18248697..18251214,2	MCF-7	breast:
3	chr7:18217795..18220211-chr7:18222403..18225204,2	MCF-7	breast:
4	chr7:18216226..18218726-chr7:18250746..18252267,2	K562	blood:
5	chr7:18205313..18207419-chr7:18215960..18218809,2	K562	blood:
6	chr7:18218172..18221072-chr7:18227014..18228909,2	K562	blood:
7	chr7:16693294..16695137-chr7:18216866..18219137,2	K562	blood:
8	chr7:17977338..17980907-chr7:18216760..18220938,4	K562	blood:
9	chr7:18215768..18218304-chr7:18231797..18235243,4	K562	blood:
10	chr7:18216175..18219315-chr7:18243152..18247014,4	K562	blood:
11	chr7:16685782..16688238-chr7:18215892..18218697,2	K562	blood:
12	chr7:17977337..17980448-chr7:18216760..18219646,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000071189	Chromatin interaction
ENSG00000136261	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1019067	0.87[EUR][1000 genomes]
rs1178340	0.92[AFR][1000 genomes]
rs1178348	0.96[CEU][hapmap]
rs1178350	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1178355	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1178358	0.84[EUR][1000 genomes]
rs1178359	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1178360	0.83[EUR][1000 genomes]
rs1178370	0.87[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap]
rs1182746	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1950040	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6969726	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs768957	0.93[AFR][1000 genomes]
rs7790308	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs877250	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9638750	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022746	chr7:17978103-18233458	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv830914	chr7:18196730-18376047	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18215600-18219200	Enhancers	Hela-S3	cervix
2	chr7:18215800-18219200	Enhancers	Stomach Mucosa	stomach
3	chr7:18216000-18221000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:18216400-18219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:18216600-18218600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:18216800-18219200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:18216800-18220800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:18217000-18219000	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:18217000-18219200	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:18217200-18218400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:18217200-18218800	Enhancers	Primary B cells from cord blood	blood
12	chr7:18217600-18219400	Enhancers	A549	lung
13	chr7:18217800-18218800	Flanking Active TSS	GM12878-XiMat	blood
14	chr7:18217800-18219000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:18218000-18219000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr7:18218000-18225400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:18218200-18218600	Active TSS	K562	blood
18	chr7:18218200-18219000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:18218200-18219400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:18218200-18220200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:18218200-18221000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:18218200-18221800	Weak transcription	Fetal Heart	heart

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