Variant report

Variant	rs2305654
Chromosome Location	chr15:42136977-42136978
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42136660-42136999	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42134555..42137354-chr15:42142923..42146121,3	K562	blood:
2	chr15:42136531..42140635-chr15:42140718..42144467,4	MCF-7	breast:
3	chr15:42130359..42132534-chr15:42135770..42138086,2	K562	blood:
4	chr15:42128850..42133555-chr15:42135364..42139036,5	K562	blood:

Variant related genes	Relation type
PLA2G4B	TF binding region
ENSG00000137877	Chromatin interaction
ENSG00000200293	Chromatin interaction
ENSG00000243708	Chromatin interaction
ENSG00000168970	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1105881	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs1107858	0.92[CEU][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap]
rs11632424	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11635067	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11635415	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12440747	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs12441300	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1531140	0.92[CEU][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16952372	0.84[JPT][hapmap]
rs17677199	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs17677991	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs17678138	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs17678552	0.88[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17678767	0.88[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17734856	0.92[CEU][hapmap];0.92[JPT][hapmap]
rs1918310	0.92[CEU][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2241522	0.92[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2277535	0.92[CEU][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2303516	0.92[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303518	0.92[CEU][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2412641	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28373318	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28401754	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28432037	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28451764	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28680296	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28701757	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28754734	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3179542	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3743024	0.92[CEU][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3959569	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4923914	0.91[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4923915	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924570	0.85[JPT][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap]
rs4924575	0.88[CEU][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4924576	0.92[CEU][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924580	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62002090	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62002091	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8025714	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs890498	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs890505	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9920903	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv904115	chr15:42076387-42171483	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1038393	chr15:42083574-42188035	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	esv1827003	chr15:42087505-42199076	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
7	esv1816120	chr15:42093384-42171578	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041645	chr15:42095168-42186482	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1051200	chr15:42095168-42188035	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
10	nsv517631	chr15:42096926-42187492	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1051733	chr15:42098896-42186482	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1036153	chr15:42098896-42188035	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
14	nsv1048606	chr15:42101694-42192760	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
15	nsv904117	chr15:42103822-42184794	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
16	nsv904118	chr15:42103822-42207905	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
17	nsv904119	chr15:42109975-42142912	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv904120	chr15:42109975-42153085	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv904121	chr15:42109975-42162957	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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 miRNA	18 gene(s)	inside rSNPs	diseases
20	nsv904122	chr15:42109975-42166475	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
21	nsv904123	chr15:42109975-42171483	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
22	nsv904124	chr15:42109975-42207905	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
23	nsv9244	chr15:42110712-42208805	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
24	nsv904125	chr15:42119900-42210393	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
25	nsv1050892	chr15:42128855-42186482	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
26	nsv904126	chr15:42132896-42171483	Enhancers Strong transcription Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2305654	C15orf41	cis	cerebellum	SCAN
rs2305654	NDUFAF1	cis	parietal	SCAN
rs2305654	SPTBN5	cis	cerebellum	SCAN
rs2305654	JMJD7-PLA2G4B	cis	parietal	SCAN
rs2305654	JMJD7-PLA2G4B	cis	cerebellum	SCAN
rs2305654	MAPKBP1	cis	cerebellum	SCAN
rs2305654	MGA	Cis_1M	lymphoblastoid	RTeQTL
rs2305654	RPAP1	cis	parietal	SCAN
rs2305654	C15orf23	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42121000-42147400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:42121400-42138200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr15:42121400-42138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42121400-42138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:42121400-42138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:42121400-42138400	Weak transcription	Primary B cells from cord blood	blood
7	chr15:42121400-42147600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:42121400-42147600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:42121600-42137200	Weak transcription	Osteobl	bone
10	chr15:42121600-42137400	Weak transcription	Small Intestine	intestine
11	chr15:42121600-42138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:42121600-42141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:42121600-42141800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:42121800-42140400	Weak transcription	Hela-S3	cervix
15	chr15:42122000-42142400	Strong transcription	Fetal Stomach	stomach
16	chr15:42122000-42142600	Strong transcription	Fetal Intestine Small	intestine
17	chr15:42122200-42145400	Weak transcription	HepG2	liver
18	chr15:42122400-42142600	Weak transcription	Fetal Brain Male	brain
19	chr15:42122800-42137200	Weak transcription	NHLF	lung
20	chr15:42124200-42142400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:42124400-42138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:42124800-42137200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:42125400-42142200	Weak transcription	GM12878-XiMat	blood
24	chr15:42125600-42137000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:42125600-42142400	Weak transcription	Dnd41	blood
26	chr15:42126200-42142000	Strong transcription	Primary T cells from cord blood	blood
27	chr15:42126200-42152400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:42126600-42140400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:42126800-42141600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:42127000-42141600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:42127000-42143600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:42128200-42141600	Strong transcription	Fetal Intestine Large	intestine
33	chr15:42128600-42138800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:42128600-42139800	Weak transcription	HUVEC	blood vessel
35	chr15:42128600-42141200	Strong transcription	Ovary	ovary
36	chr15:42130400-42138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:42131000-42140400	Weak transcription	HMEC	breast
38	chr15:42131000-42162800	Weak transcription	HSMM	muscle
39	chr15:42131200-42137200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:42131200-42138000	Weak transcription	HSMMtube	muscle
41	chr15:42131200-42141000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:42131800-42138600	Weak transcription	Stomach Mucosa	stomach
43	chr15:42131800-42141000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:42131800-42141400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr15:42131800-42142600	Weak transcription	Psoas Muscle	Psoas
46	chr15:42132000-42141200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:42132000-42141800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:42132200-42141400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr15:42132200-42141600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr15:42132200-42141600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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