Variant report

Variant	rs17295457
Chromosome Location	chr15:83670356-83670357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83253377..83255551-chr15:83668447..83670798,2	MCF-7	breast:
2	chr15:83669361..83671818-chr15:83672867..83675852,3	K562	blood:
3	chr15:83659649..83661321-chr15:83668906..83670825,2	K562	blood:
4	chr15:83668969..83671305-chr15:83672864..83675852,3	K562	blood:
5	chr15:83638166..83640481-chr15:83668507..83670942,2	MCF-7	breast:
6	chr15:83668658..83671057-chr15:83678964..83681474,2	K562	blood:
7	chr15:83670089..83673828-chr15:83675378..83682483,6	MCF-7	breast:
8	chr15:83668786..83671012-chr15:83671933..83674427,4	MCF-7	breast:
9	chr15:83418616..83420865-chr15:83666935..83670708,4	MCF-7	breast:
10	chr15:83661503..83663041-chr15:83669918..83672402,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260608	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10220725	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11857990	1.00[CHD][hapmap]
rs28408839	1.00[ASN][1000 genomes]
rs28429062	1.00[CHD][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs28454771	1.00[ASN][1000 genomes]
rs28463621	1.00[ASN][1000 genomes]
rs28479338	1.00[ASN][1000 genomes]
rs28509292	1.00[ASN][1000 genomes]
rs28510490	1.00[ASN][1000 genomes]
rs28540116	1.00[ASN][1000 genomes]
rs28569354	1.00[ASN][1000 genomes]
rs28570610	1.00[ASN][1000 genomes]
rs28662361	1.00[CHD][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs28707195	1.00[ASN][1000 genomes]
rs28711332	1.00[CHD][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs28755408	1.00[ASN][1000 genomes]
rs28819476	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836869	1.00[ASN][1000 genomes]
rs67634629	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs716886	1.00[CHD][hapmap]
rs7169539	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170046	0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7177462	1.00[CHD][hapmap]
rs72755930	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72755935	1.00[ASN][1000 genomes]
rs72755947	1.00[ASN][1000 genomes]
rs72755962	1.00[ASN][1000 genomes]
rs8038619	1.00[ASN][1000 genomes]
rs9919979	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv482308	chr15:83584918-83747362	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17295457	MEX3B	cis	cerebellum	SCAN
rs17295457	ZNF592	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83655400-83675400	Weak transcription	Spleen	Spleen
2	chr15:83655800-83673600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:83655800-83675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:83655800-83679200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:83656000-83675200	Weak transcription	Esophagus	oesophagus
6	chr15:83656200-83673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:83656200-83677800	Weak transcription	Fetal Brain Male	brain
8	chr15:83656200-83679000	Weak transcription	Right Ventricle	heart
9	chr15:83656400-83679200	Weak transcription	Fetal Heart	heart
10	chr15:83656600-83674400	Weak transcription	HepG2	liver
11	chr15:83657600-83673800	Weak transcription	Fetal Intestine Small	intestine
12	chr15:83657800-83673800	Weak transcription	Brain Germinal Matrix	brain
13	chr15:83658000-83673600	Weak transcription	Fetal Brain Female	brain
14	chr15:83658000-83675000	Weak transcription	Lung	lung
15	chr15:83658000-83675200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:83658000-83679000	Weak transcription	Gastric	stomach
17	chr15:83658200-83673600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:83658200-83674400	Weak transcription	Ovary	ovary
19	chr15:83658200-83676000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:83658600-83674200	Weak transcription	Dnd41	blood
21	chr15:83659800-83673600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:83659800-83675200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:83659800-83675600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:83659800-83675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:83660800-83672400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:83661000-83673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:83661200-83673000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:83661400-83672200	Weak transcription	Fetal Intestine Large	intestine
29	chr15:83664800-83674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:83665600-83679400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:83668400-83673600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:83668400-83674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:83669200-83672200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:83669200-83672200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:83669200-83672800	Weak transcription	Fetal Stomach	stomach
36	chr15:83669200-83673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:83669200-83673600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr15:83669200-83674000	Weak transcription	Left Ventricle	heart
39	chr15:83669200-83675200	Weak transcription	Small Intestine	intestine
40	chr15:83669200-83675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:83669200-83675600	Weak transcription	Brain Angular Gyrus	brain
42	chr15:83669200-83677200	Weak transcription	Aorta	Aorta
43	chr15:83669200-83678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr15:83669200-83678800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr15:83669200-83679000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:83669400-83671200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:83669400-83671400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:83669400-83671600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:83669400-83672200	Weak transcription	Primary T cells from cord blood	blood
50	chr15:83669400-83672200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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