Variant report

Variant	rs902482
Chromosome Location	chr15:75487844-75487845
allele	C/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	RAD21	chr15:75487809-75488049	H1-hESC	embryonic stem cell:	n/a	chr15:75487969-75487982 chr15:75488011-75488025
2	NFIC	chr15:75487609-75488774	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr15:75487611-75488509	ECC-1	luminal epithelium:	n/a	n/a
4	ZBTB7A	chr15:75487730-75488176	ECC-1	luminal epithelium:	n/a	chr15:75488142-75488156 chr15:75488143-75488157
5	REST	chr15:75487477-75488382	H1-neurons	neurons:	n/a	chr15:75487891-75487904 chr15:75487580-75487593 chr15:75488299-75488319
6	EBF1	chr15:75487741-75488093	GM12878	blood:	n/a	n/a
7	TBP	chr15:75487832-75488028	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr15:75487800-75488052	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:75487658-75488192	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr15:75487715-75488247	H1-neurons	neurons:	n/a	n/a
11	MXI1	chr15:75487445-75488668	SK-N-SH	brain:	n/a	chr15:75488004-75488013 chr15:75488059-75488068
12	ZNF143	chr15:75487826-75487987	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF12	chr15:75487811-75488093	H1-hESC	embryonic stem cell:	n/a	chr15:75487990-75488000
14	SIN3AK20	chr15:75487744-75488091	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3A	chr15:75487660-75488663	H1-hESC	embryonic stem cell:	n/a	chr15:75487891-75487904
16	CTCF	chr15:75487820-75487970	SK-N-SH_RA	brain:	n/a	n/a
17	POLR2A	chr15:75487809-75487867	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZBTB7A	chr15:75487580-75488695	ECC-1	luminal epithelium:	n/a	chr15:75488142-75488156 chr15:75488143-75488157
19	NANOG	chr15:75487809-75488141	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr15:75487811-75488114	H1-hESC	embryonic stem cell:	n/a	chr15:75488004-75488013 chr15:75488059-75488068

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75487202..75491376-chr15:75491587..75495203,5	K562	blood:

Variant related genes	Relation type
C15orf39	TF binding region
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11072532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11072533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11072534	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11072536	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11636245	0.85[CHB][hapmap]
rs11853027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12591506	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12592411	0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12708517	0.89[ASN][1000 genomes]
rs12904018	0.90[ASN][1000 genomes]
rs1532155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2006683	0.84[ASN][1000 genomes]
rs3743210	0.93[ASN][1000 genomes]
rs3743211	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4886430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4886431	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs4886677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7403344	0.92[ASN][1000 genomes]
rs8025431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8039284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8043432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs953555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh 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	41 gene(s)	inside rSNPs	diseases
6	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75477200-75492600	Weak transcription	Spleen	Spleen
2	chr15:75484200-75491600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:75484200-75492800	Enhancers	Placenta	Placenta
4	chr15:75485600-75491200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:75486000-75489200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:75486200-75489200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:75486200-75490000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:75487000-75488000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr15:75487000-75488600	Enhancers	HSMMtube	muscle
10	chr15:75487000-75488800	Enhancers	Primary hematopoietic stem cells	blood
11	chr15:75487000-75490000	Enhancers	Fetal Stomach	stomach
12	chr15:75487000-75491200	Enhancers	Fetal Heart	heart
13	chr15:75487400-75489600	Enhancers	Fetal Thymus	thymus
14	chr15:75487400-75491000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr15:75487600-75488000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:75487600-75488000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr15:75487600-75488000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:75487600-75488000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:75487600-75488000	Enhancers	Brain Germinal Matrix	brain
20	chr15:75487600-75488000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr15:75487600-75488000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr15:75487600-75488000	Enhancers	Pancreas	Pancrea
23	chr15:75487600-75488200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:75487600-75488200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr15:75487600-75488200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr15:75487600-75488200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:75487600-75488200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:75487600-75488200	Enhancers	Fetal Brain Female	brain
29	chr15:75487600-75488200	Enhancers	Left Ventricle	heart
30	chr15:75487600-75488200	Enhancers	Right Ventricle	heart
31	chr15:75487600-75488200	Enhancers	NH-A	brain
32	chr15:75487600-75488400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:75487600-75488400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr15:75487600-75488400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:75487600-75488400	Enhancers	Colon Smooth Muscle	Colon
36	chr15:75487600-75488600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:75487600-75488600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:75487600-75488600	Enhancers	Brain Cingulate Gyrus	brain
39	chr15:75487600-75488600	Bivalent Enhancer	Brain Hippocampus Middle	brain
40	chr15:75487600-75488600	Enhancers	Colonic Mucosa	Colon
41	chr15:75487600-75488600	Enhancers	Fetal Brain Male	brain
42	chr15:75487600-75488600	Enhancers	Fetal Lung	lung
43	chr15:75487600-75488600	Enhancers	Lung	lung
44	chr15:75487600-75488600	Enhancers	Ovary	ovary
45	chr15:75487600-75488800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:75487600-75488800	Enhancers	Fetal Intestine Large	intestine
47	chr15:75487600-75488800	Enhancers	GM12878-XiMat	blood
48	chr15:75487600-75488800	Enhancers	HSMM	muscle
49	chr15:75487600-75488800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr15:75487600-75489000	Enhancers	H1 Cell Line	embryonic stem cell

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