Variant report

Variant	rs10851869
Chromosome Location	chr15:74331083-74331084
allele	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	chr15:74329919-74331926	K562	blood:	n/a	n/a
2	POLR2A	chr15:74330568-74331141	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:74330357-74331686	K562	blood:	n/a	n/a
4	POLR2A	chr15:74331050-74331255	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:74331057-74331126	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74328869..74331984-chr15:74335288..74339582,4	MCF-7	breast:
2	chr15:74330729..74333109-chr15:74334617..74337154,3	K562	blood:

Variant related genes	Relation type
PML	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1052242	0.90[MKK][hapmap]
rs1078555	0.82[MEX][hapmap]
rs11072463	0.95[MKK][hapmap];0.83[YRI][hapmap]
rs11636065	0.90[MKK][hapmap]
rs11636934	0.89[ASN][1000 genomes]
rs12101466	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs12102015	0.88[JPT][hapmap]
rs12902857	0.90[MKK][hapmap]
rs12902945	0.84[AFR][1000 genomes]
rs12904518	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs12909197	0.83[ASN][1000 genomes]
rs12911984	0.85[AFR][1000 genomes]
rs1550434	0.82[MEX][hapmap]
rs1550435	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304716	0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2507	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4287518	0.80[YRI][hapmap]
rs4993000	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7174985	0.88[ASN][1000 genomes]
rs7183908	0.92[AFR][1000 genomes]
rs743580	0.91[AFR][1000 genomes]
rs752004	0.93[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs8039184	0.88[ASN][1000 genomes]
rs9479	0.97[MKK][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	nsv457203	chr15:74308940-74347723	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv569971	chr15:74308940-74347723	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv510666	chr15:74310738-74394745	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10851869	CYP11A1	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74303600-74331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:74313000-74338600	Strong transcription	Primary T cells from cord blood	blood
3	chr15:74314200-74338200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:74314600-74338000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:74316400-74340400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:74318400-74340200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:74318400-74340400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:74322800-74336600	Strong transcription	Primary B cells from cord blood	blood
9	chr15:74323400-74332400	Strong transcription	Thymus	Thymus
10	chr15:74325200-74331400	Strong transcription	Brain Germinal Matrix	brain
11	chr15:74325200-74331600	Strong transcription	Pancreas	Pancrea
12	chr15:74325800-74331200	Weak transcription	Right Atrium	heart
13	chr15:74326000-74332200	Strong transcription	Spleen	Spleen
14	chr15:74326200-74338200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:74326400-74331400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:74326600-74340200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:74327200-74331800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:74327200-74331800	Weak transcription	HepG2	liver
19	chr15:74327200-74332200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:74327200-74332200	Weak transcription	Fetal Kidney	kidney
21	chr15:74327800-74346000	Weak transcription	Psoas Muscle	Psoas
22	chr15:74328000-74331600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:74328600-74346200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:74328800-74332000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr15:74328800-74332200	Genic enhancers	Fetal Stomach	stomach
26	chr15:74328800-74332600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:74328800-74334800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr15:74328800-74340000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr15:74329000-74331200	Weak transcription	HSMMtube	muscle
30	chr15:74329000-74331600	Weak transcription	Stomach Mucosa	stomach
31	chr15:74329000-74334000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:74329000-74334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:74329000-74334600	Weak transcription	Brain Hippocampus Middle	brain
34	chr15:74329000-74334800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:74329000-74335000	Weak transcription	Brain Anterior Caudate	brain
36	chr15:74329000-74344000	Weak transcription	Small Intestine	intestine
37	chr15:74329200-74334800	Weak transcription	Brain Substantia Nigra	brain
38	chr15:74329200-74335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:74329200-74339000	Weak transcription	Fetal Thymus	thymus
40	chr15:74329200-74340400	Weak transcription	Liver	Liver
41	chr15:74329200-74340600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr15:74329200-74343200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:74329400-74334400	Weak transcription	Fetal Intestine Large	intestine
44	chr15:74329400-74340200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:74329600-74334600	Weak transcription	Aorta	Aorta
46	chr15:74329600-74335600	Weak transcription	Fetal Brain Female	brain
47	chr15:74329600-74337800	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr15:74329800-74331200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:74329800-74331400	Weak transcription	Ovary	ovary
50	chr15:74329800-74332200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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