Variant report

Variant	rs4436747
Chromosome Location	chr15:78714008-78714009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78705837..78708183-chr15:78712525..78714255,2	K562	blood:
2	chr15:78714000..78716972-chr15:78729600..78732275,2	K562	blood:

Variant related genes	Relation type
ENSG00000136381	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10519198	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11072762	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072763	0.87[ASN][1000 genomes]
rs11072765	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11639224	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12899131	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12909921	0.86[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12910090	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1847529	0.89[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2036532	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2568498	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2568500	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2656058	0.85[EUR][1000 genomes]
rs2869030	0.95[JPT][hapmap]
rs2869046	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4390557	0.90[EUR][1000 genomes]
rs8041628	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs954144	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
3	nsv833063	chr15:78605215-78754945	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1627	chr15:78683761-78728604	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4436747	RP11-650L12.2	cis	Nerve Tibial	GTEx
rs4436747	RP11-650L12.2	cis	Muscle Skeletal	GTEx
rs4436747	RP11-650L12.2	cis	Adipose Subcutaneous	GTEx
rs4436747	RP11-650L12.2	cis	lung	GTEx
rs4436747	CHRNA5	cis	Adipose Subcutaneous	GTEx
rs4436747	CHRNA5	cis	Nerve Tibial	GTEx
rs4436747	CHRNA5	cis	Muscle Skeletal	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78698200-78729800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:78700800-78722000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:78709800-78715000	Enhancers	HepG2	liver
4	chr15:78710800-78714200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:78710800-78714600	Weak transcription	Colonic Mucosa	Colon
6	chr15:78710800-78715000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:78711600-78715000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:78711800-78714600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:78711800-78715000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:78712600-78714400	Enhancers	Fetal Muscle Leg	muscle
11	chr15:78712600-78718000	Weak transcription	Hela-S3	cervix
12	chr15:78713000-78714200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:78713000-78715600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:78713000-78718000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr15:78713200-78715200	Enhancers	NHDF-Ad	bronchial
16	chr15:78713400-78714200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:78713400-78714200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:78713400-78714800	Weak transcription	Ovary	ovary
19	chr15:78713400-78715200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:78713400-78717400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr15:78713400-78717600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:78713600-78715200	Enhancers	Fetal Intestine Small	intestine
23	chr15:78713600-78716000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr15:78713800-78714200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:78713800-78715200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:78714000-78714200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:78714000-78715800	Enhancers	Fetal Intestine Large	intestine

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