Variant report

Variant	rs11636016
Chromosome Location	chr15:74291976-74291977
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74276152..74278081-chr15:74290806..74293651,2	K562	blood:
2	chr15:74288636..74290848-chr15:74291772..74294059,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140464	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10162627	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052242	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs1052246	0.83[CEU][hapmap]
rs10851866	0.80[AMR][1000 genomes]
rs10851867	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10851868	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs11072458	0.81[CEU][hapmap]
rs11072461	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11072462	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11072463	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11072464	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11072465	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11072466	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11072467	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11072469	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11633520	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11633735	0.84[AMR][1000 genomes]
rs11635930	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11636065	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs11854321	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11857498	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12442211	0.83[MEX][hapmap]
rs12592370	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12593528	0.81[AMR][1000 genomes]
rs12901603	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902857	0.81[CEU][hapmap];0.83[MEX][hapmap]
rs12902945	0.82[AMR][1000 genomes]
rs12904213	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12908748	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12911807	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12911984	0.84[AMR][1000 genomes]
rs12912395	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12917179	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2165242	0.84[AMR][1000 genomes]
rs2277599	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs2304715	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2304716	1.00[CEU][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes]
rs2304717	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2304718	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3784562	0.84[CEU][hapmap];0.83[MEX][hapmap]
rs4287518	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs4886844	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56194867	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs734854	0.96[CEU][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes]
rs743581	0.80[ASN][1000 genomes]
rs8027327	0.81[CEU][hapmap]
rs8027774	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028557	0.80[AMR][1000 genomes]
rs8038991	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8039276	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039404	0.83[AMR][1000 genomes]
rs8043489	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv518316	chr15:74290993-74331083	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11636016	STOML1	cis	cerebellum	SCAN
rs11636016	STOML1	cis	Esophagus Mucosa	GTEx
rs11636016	BBS4	cis	parietal	SCAN
rs11636016	KIAA1462	trans	parietal	SCAN
rs11636016	LARP6	cis	parietal	SCAN
rs11636016	CYP11A1	cis	cerebellum	SCAN
rs11636016	ADPGK	cis	parietal	SCAN
rs11636016	STOML1	cis	parietal	SCAN
rs11636016	DMBX1	trans	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74288200-74301800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:74288200-74303000	Weak transcription	A549	lung
3	chr15:74288200-74303800	Weak transcription	Brain Angular Gyrus	brain
4	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
5	chr15:74289600-74302400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:74289800-74292000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:74289800-74292000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
8	chr15:74289800-74293000	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr15:74289800-74296000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr15:74289800-74303200	Weak transcription	Brain Substantia Nigra	brain
11	chr15:74289800-74331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:74290000-74292000	Genic enhancers	Primary T cells from cord blood	blood
13	chr15:74290000-74292000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:74290000-74295200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:74290000-74299000	Weak transcription	Stomach Mucosa	stomach
16	chr15:74290000-74303400	Weak transcription	Fetal Kidney	kidney
17	chr15:74290000-74314800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:74290200-74292000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:74290200-74292000	Genic enhancers	Primary B cells from cord blood	blood
20	chr15:74290200-74292000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:74290200-74292000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:74290200-74292000	Strong transcription	Fetal Brain Female	brain
23	chr15:74290200-74292000	Strong transcription	HSMMtube	muscle
24	chr15:74290200-74292000	Strong transcription	NH-A	brain
25	chr15:74290200-74292400	Genic enhancers	Primary hematopoietic stem cells	blood
26	chr15:74290200-74292800	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr15:74290200-74293000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:74290200-74293400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:74290200-74298200	Weak transcription	HepG2	liver
30	chr15:74290400-74292000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr15:74290400-74292000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:74290400-74292000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:74290400-74292000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:74290400-74292000	Genic enhancers	Liver	Liver
35	chr15:74290400-74292000	Strong transcription	Fetal Intestine Large	intestine
36	chr15:74290400-74292000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr15:74290400-74292000	Genic enhancers	HUVEC	blood vessel
38	chr15:74290400-74292000	Genic enhancers	NHDF-Ad	bronchial
39	chr15:74290400-74292000	Genic enhancers	Osteobl	bone
40	chr15:74290400-74292400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr15:74290400-74293400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:74290400-74293600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:74290400-74299000	Strong transcription	Fetal Thymus	thymus
44	chr15:74290600-74292000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:74290600-74292000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:74290600-74292000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:74290600-74292000	Strong transcription	Brain Hippocampus Middle	brain
48	chr15:74290600-74292000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:74290600-74292200	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr15:74290600-74296800	Strong transcription	Fetal Lung	lung

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