Variant report

Variant	rs11632519
Chromosome Location	chr15:42123267-42123268
allele	A/G
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	chr15:42122765-42123321	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42122872..42126047-chr15:42126791..42131021,4	K562	blood:
2	chr15:42119169..42123691-chr15:42124459..42130624,7	MCF-7	breast:
3	chr15:42121774..42125537-chr15:42128092..42132193,4	MCF-7	breast:
4	chr15:42119641..42122495-chr15:42123255..42125312,3	K562	blood:

Variant related genes	Relation type
JMJD7-PLA2G4B	TF binding region
JMJD7	TF binding region
ENSG00000250379	TF binding region
ENSG00000250379	Chromatin interaction
ENSG00000168970	Chromatin interaction
ENSG00000243789	Chromatin interaction
ENSG00000243708	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1122884	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630972	1.00[JPT][hapmap]
rs11631051	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633160	1.00[ASN][1000 genomes]
rs11634083	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634804	1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11636523	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1197667	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197669	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197671	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1197672	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197702	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197703	1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs1197705	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1197706	1.00[ASN][1000 genomes]
rs12906666	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12917387	1.00[JPT][hapmap]
rs17677098	1.00[JPT][hapmap]
rs17677757	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17678310	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2178003	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2925339	1.00[JPT][hapmap]
rs34621600	1.00[ASN][1000 genomes]
rs35476790	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167078	1.00[JPT][hapmap]
rs8042809	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9646193	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11632519	SPTBN5	cis	Esophagus Muscularis	GTEx
rs11632519	SPTBN5	cis	Artery Aorta	GTEx
rs11632519	SPTBN5	cis	Thyroid	GTEx
rs11632519	SPTBN5	cis	lung	GTEx
rs11632519	SPTBN5	cis	Artery Tibial	GTEx

Chromatin state (count:118 , 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	chr15:42121200-42123800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:42121200-42124000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr15:42121200-42124200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:42121200-42124200	Enhancers	Fetal Thymus	thymus
6	chr15:42121200-42124400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:42121200-42124400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:42121200-42124400	Weak transcription	Right Atrium	heart
9	chr15:42121200-42126000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:42121200-42126600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:42121200-42130400	Weak transcription	Stomach Mucosa	stomach
12	chr15:42121400-42123600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:42121400-42123800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:42121400-42123800	Weak transcription	Fetal Lung	lung
15	chr15:42121400-42123800	Weak transcription	HSMM	muscle
16	chr15:42121400-42124000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:42121400-42124200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:42121400-42124200	Weak transcription	Aorta	Aorta
19	chr15:42121400-42124200	Enhancers	Dnd41	blood
20	chr15:42121400-42124600	Weak transcription	HSMMtube	muscle
21	chr15:42121400-42124800	Weak transcription	K562	blood
22	chr15:42121400-42125200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:42121400-42125400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:42121400-42125400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr15:42121400-42126200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:42121400-42126200	Weak transcription	Ovary	ovary
27	chr15:42121400-42129400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:42121400-42130400	Weak transcription	Psoas Muscle	Psoas
29	chr15:42121400-42133800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:42121400-42138200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:42121400-42138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:42121400-42138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:42121400-42138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:42121400-42138400	Weak transcription	Primary B cells from cord blood	blood
35	chr15:42121400-42147600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:42121400-42147600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:42121600-42123400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr15:42121600-42123400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:42121600-42123400	Weak transcription	Liver	Liver
40	chr15:42121600-42123400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:42121600-42123800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:42121600-42123800	Weak transcription	Brain Germinal Matrix	brain
43	chr15:42121600-42124000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr15:42121600-42124000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr15:42121600-42124400	Weak transcription	Placenta	Placenta
46	chr15:42121600-42125400	Weak transcription	Fetal Kidney	kidney
47	chr15:42121600-42130200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:42121600-42134000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:42121600-42137200	Weak transcription	Osteobl	bone
50	chr15:42121600-42137400	Weak transcription	Small Intestine	intestine

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