Variant report

Variant	rs876383
Chromosome Location	chr15:74333413-74333414
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	chr15:74333286-74333564	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:74333385-74333450	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr15:74332529-74333553	U87	brain:	n/a	n/a
4	EP300	chr15:74332676-74333417	ECC-1	luminal epithelium:	n/a	chr15:74333076-74333085
5	POLR2A	chr15:74332479-74333597	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74314012..74317004-chr15:74331925..74334688,2	K562	blood:

Variant related genes	Relation type
PML	TF binding region
ENSG00000140464	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs752004	0.84[MEX][hapmap]
rs9479	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
6	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
7	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
8	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
9	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs876383	CYP11A1	cis	cerebellum	SCAN
rs876383	STOML1	cis	parietal	SCAN
rs876383	PML	cis	parietal	SCAN
rs876383	LMAN1L	cis	inferior olivary nucleus	BrainEAC

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74313000-74338600	Strong transcription	Primary T cells from cord blood	blood
2	chr15:74314200-74338200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:74314600-74338000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:74316400-74340400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:74318400-74340200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:74318400-74340400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:74322800-74336600	Strong transcription	Primary B cells from cord blood	blood
8	chr15:74326200-74338200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:74326600-74340200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:74327800-74346000	Weak transcription	Psoas Muscle	Psoas
11	chr15:74328600-74346200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:74328800-74334800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:74328800-74340000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:74329000-74334000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:74329000-74334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:74329000-74334600	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:74329000-74334800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:74329000-74335000	Weak transcription	Brain Anterior Caudate	brain
19	chr15:74329000-74344000	Weak transcription	Small Intestine	intestine
20	chr15:74329200-74334800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:74329200-74335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:74329200-74339000	Weak transcription	Fetal Thymus	thymus
23	chr15:74329200-74340400	Weak transcription	Liver	Liver
24	chr15:74329200-74340600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:74329200-74343200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:74329400-74334400	Weak transcription	Fetal Intestine Large	intestine
27	chr15:74329400-74340200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:74329600-74334600	Weak transcription	Aorta	Aorta
29	chr15:74329600-74335600	Weak transcription	Fetal Brain Female	brain
30	chr15:74329600-74337800	Genic enhancers	Stomach Smooth Muscle	stomach
31	chr15:74329800-74334200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:74329800-74334800	Weak transcription	Brain Angular Gyrus	brain
33	chr15:74329800-74340400	Weak transcription	Fetal Brain Male	brain
34	chr15:74329800-74340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:74330000-74340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:74330000-74340600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:74330000-74343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:74330200-74338000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:74330400-74334200	Weak transcription	Esophagus	oesophagus
40	chr15:74330400-74334800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:74330400-74334800	Weak transcription	Gastric	stomach
42	chr15:74330400-74335000	Weak transcription	Fetal Intestine Small	intestine
43	chr15:74330400-74335600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:74330400-74340200	Weak transcription	Dnd41	blood
45	chr15:74330400-74340400	Weak transcription	GM12878-XiMat	blood
46	chr15:74330600-74333800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:74330600-74334000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:74330600-74334000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:74330600-74334200	Enhancers	Adipose Nuclei	Adipose
50	chr15:74330600-74334600	Weak transcription	Primary monocytes fromperipheralblood	blood

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