Variant report

Variant	rs59639757
Chromosome Location	chr9:15513162-15513163
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr9:15512990-15513753	K562	blood:	n/a	n/a
2	TBP	chr9:15512457-15513800	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr9:15513016-15513784	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr9:15513023-15513325	GM12878	blood:	n/a	n/a
5	SP1	chr9:15512774-15513292	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr9:15513091-15513785	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr9:15512910-15513717	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr9:15512743-15513324	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr9:15511947-15513893	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr9:15512444-15513786	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:15512115-15513907	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr9:15512928-15513234	H1-hESC	embryonic stem cell:	n/a	n/a
13	NANOG	chr9:15512914-15513180	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr9:15512851-15513707	H1-hESC	embryonic stem cell:	n/a	n/a
15	NANOG	chr9:15512856-15513162	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr9:15513099-15513786	H1-hESC	embryonic stem cell:	n/a	n/a
17	SREBP1	chr9:15510259-15513935	GM12878	blood:	n/a	n/a
18	MAX	chr9:15512945-15513834	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr9:15509050-15513782	H1-hESC	embryonic stem cell:	n/a	chr9:15510554-15510564 chr9:15510784-15510794 chr9:15510444-15510454 chr9:15511226-15511236
20	EBF1	chr9:15513107-15513294	GM12878	blood:	n/a	n/a
21	TCF12	chr9:15512824-15513285	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr9:15512855-15513247	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:15512114..15513693-chr9:15523609..15526046,2	MCF-7	breast:
2	chr9:15511224..15513667-chr9:15516724..15518268,2	K562	blood:

No data

Variant related genes	Relation type
PSIP1	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10283923	0.87[ASN][1000 genomes]
rs10283927	0.87[ASN][1000 genomes]
rs12336503	0.87[ASN][1000 genomes]
rs12336509	0.87[ASN][1000 genomes]
rs12339417	0.87[ASN][1000 genomes]
rs12682808	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12683553	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12684388	0.89[EUR][1000 genomes]
rs12686545	0.89[EUR][1000 genomes]
rs13248	0.89[EUR][1000 genomes]
rs16933311	0.87[ASN][1000 genomes]
rs16933320	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16933348	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2175257	0.87[ASN][1000 genomes]
rs2277191	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2777950	0.85[ASN][1000 genomes]
rs28537229	0.84[ASN][1000 genomes]
rs3739801	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55771541	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56361298	0.96[ASN][1000 genomes]
rs57467578	0.96[ASN][1000 genomes]
rs60046377	0.89[EUR][1000 genomes]
rs62571010	0.87[ASN][1000 genomes]
rs62571022	0.96[ASN][1000 genomes]
rs62571023	0.96[ASN][1000 genomes]
rs62571024	0.96[ASN][1000 genomes]
rs62571027	0.90[ASN][1000 genomes]
rs62571030	0.80[ASN][1000 genomes]
rs62571031	0.82[ASN][1000 genomes]
rs62571032	0.82[ASN][1000 genomes]
rs6474927	0.80[ASN][1000 genomes]
rs7018658	0.87[ASN][1000 genomes]
rs7021153	0.83[ASN][1000 genomes]
rs73408328	0.96[ASN][1000 genomes]
rs73410253	0.90[EUR][1000 genomes]
rs73410254	0.90[EUR][1000 genomes]
rs73644655	1.00[EUR][1000 genomes]
rs73644657	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7856710	0.82[ASN][1000 genomes]
rs7857933	0.91[ASN][1000 genomes]
rs7863046	0.80[ASN][1000 genomes]
rs7863139	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv892628	chr9:15420805-15528290	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15508600-15513200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr9:15511400-15513600	Flanking Active TSS	GM12878-XiMat	blood
3	chr9:15511600-15513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:15511600-15513200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:15511800-15513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:15511800-15513400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr9:15511800-15513400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr9:15511800-15513600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr9:15511800-15513600	Enhancers	Primary T cells from cord blood	blood
10	chr9:15511800-15513600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr9:15511800-15513600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr9:15511800-15513800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr9:15511800-15513800	Enhancers	Primary B cells from cord blood	blood
14	chr9:15511800-15513800	Enhancers	Primary B cells from peripheral blood	blood
15	chr9:15511800-15513800	Enhancers	Primary hematopoietic stem cells	blood
16	chr9:15511800-15513800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr9:15511800-15513800	Enhancers	Fetal Thymus	thymus
18	chr9:15512000-15513200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:15512000-15513400	Enhancers	Brain Germinal Matrix	brain
20	chr9:15512200-15513400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:15512400-15513200	Weak transcription	Fetal Brain Female	brain
22	chr9:15512400-15513200	Enhancers	K562	blood
23	chr9:15512400-15513400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:15512400-15513400	Weak transcription	A549	lung
25	chr9:15512400-15515000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:15512600-15513600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:15512600-15513600	Weak transcription	Thymus	Thymus
28	chr9:15512600-15514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:15512800-15513200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:15512800-15513200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr9:15512800-15513200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr9:15512800-15513200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr9:15512800-15513200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr9:15512800-15513400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr9:15512800-15513800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:15513000-15513200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:15513000-15513200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:15513000-15513400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr9:15513000-15513400	Active TSS	HUES64 Cell Line	embryonic stem cell

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