Variant report

Variant	rs17178978
Chromosome Location	chr7:139551562-139551563
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139551163..139553403-chr7:139554388..139556915,3	K562	blood:
2	chr7:139550950..139553853-chr7:139674232..139676549,2	K562	blood:
3	chr7:139544883..139546567-chr7:139551008..139554000,2	K562	blood:
4	chr7:139538171..139540494-chr7:139550630..139553046,2	K562	blood:
5	chr7:139550951..139553349-chr7:139614686..139616321,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10487662	1.00[ASW][hapmap]
rs12532529	0.82[CEU][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs12536965	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12540398	0.93[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17178522	1.00[ASW][hapmap]
rs1859569	0.81[EUR][1000 genomes]
rs2214757	0.81[EUR][1000 genomes]
rs727359	0.81[EUR][1000 genomes]
rs8192805	0.95[MKK][hapmap]
rs8192810	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong 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	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17178978	KEL	cis	parietal	SCAN
rs17178978	CLEC5A	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531400-139553800	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:139541000-139555200	Weak transcription	Thymus	Thymus
4	chr7:139542400-139551600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:139542800-139551600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:139543000-139551800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:139543200-139554000	Weak transcription	Fetal Thymus	thymus
8	chr7:139545000-139551600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr7:139545200-139553000	Weak transcription	Lung	lung
10	chr7:139545200-139559800	Weak transcription	Spleen	Spleen
11	chr7:139545400-139551600	Weak transcription	Gastric	stomach
12	chr7:139546400-139551600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:139546800-139553200	Weak transcription	Pancreas	Pancrea
14	chr7:139548800-139553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:139549200-139553400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:139551000-139551600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:139551000-139552400	Enhancers	Small Intestine	intestine
18	chr7:139551000-139552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:139551200-139551800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:139551200-139552600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:139551400-139551800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:139551400-139552200	Enhancers	Fetal Heart	heart
23	chr7:139551400-139553400	Enhancers	Stomach Mucosa	stomach
24	chr7:139551400-139555600	Enhancers	HepG2	liver

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