Variant report

Variant	rs16933348
Chromosome Location	chr9:15513651-15513652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:15513520-15513670	K562	blood:	n/a	n/a
2	CTCF	chr9:15513511-15513718	GM19240	blood:	n/a	n/a
3	POLR2A	chr9:15513417-15513706	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr9:15513560-15513710	MCF-7	breast:	n/a	n/a
5	CTCF	chr9:15513520-15513670	AoAF	blood vessel:	n/a	n/a
6	YY1	chr9:15513492-15513668	K562	blood:	n/a	n/a
7	CTCF	chr9:15513497-15513701	GM12891	blood:	n/a	n/a
8	CTCF	chr9:15513520-15513670	HA-sp	spinal cord:	n/a	n/a
9	RAD21	chr9:15513420-15513696	GM12878	blood:	n/a	n/a
10	CTCF	chr9:15513540-15513690	AG04450	lung:	n/a	n/a
11	CTCF	chr9:15513504-15513704	MCF-7	breast:	n/a	n/a
12	CTCF	chr9:15513580-15513730	NHEK	skin:	n/a	n/a
13	CTCF	chr9:15513482-15513747	MCF-7	breast:	n/a	n/a
14	CTCF	chr9:15513580-15513730	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr9:15513560-15513710	BE2_C	brain:	n/a	n/a
16	CTCF	chr9:15513560-15513710	HMEC	breast:	n/a	n/a
17	ZNF143	chr9:15513369-15513770	K562	blood:	n/a	n/a
18	MAZ	chr9:15512990-15513753	K562	blood:	n/a	n/a
19	RAD21	chr9:15513327-15513817	H1-hESC	embryonic stem cell:	n/a	n/a
20	TBP	chr9:15512457-15513800	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr9:15513016-15513784	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr9:15513537-15513674	Medullo	brain:	n/a	n/a
23	CTCF	chr9:15513387-15513800	GM12878	blood:	n/a	n/a
24	EBF1	chr9:15513505-15513733	GM12878	blood:	n/a	n/a
25	RCOR1	chr9:15513398-15513719	K562	blood:	n/a	n/a
26	CTCF	chr9:15513496-15513685	HepG2	liver:	n/a	n/a
27	CTCF	chr9:15513540-15513707	LNCaP	prostate:	n/a	n/a
28	CTCF	chr9:15513443-15513786	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr9:15513520-15513670	GM12866	blood:	n/a	n/a
30	CTCF	chr9:15513560-15513710	GM12874	blood:	n/a	n/a
31	CTCF	chr9:15513493-15513713	K562	blood:	n/a	n/a
32	CTCF	chr9:15513540-15513690	GM06990	blood:	n/a	n/a
33	JUND	chr9:15513416-15513724	K562	blood:	n/a	n/a
34	YY1	chr9:15513449-15513852	GM12878	blood:	n/a	n/a
35	CTCF	chr9:15513540-15513690	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr9:15513367-15513813	K562	blood:	n/a	n/a
37	CTCF	chr9:15513540-15513690	HMEC	breast:	n/a	n/a
38	CTCF	chr9:15513580-15513730	HRE	kidney:	n/a	n/a
39	POLR2A	chr9:15513338-15513659	GM12891	blood:	n/a	n/a
40	RAD21	chr9:15513439-15513728	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr9:15513339-15513881	MCF-7	breast:	n/a	n/a
42	CTCF	chr9:15513540-15513664	Fibrobl	skin:	n/a	n/a
43	CTCF	chr9:15513521-15513654	SK-N-SH_RA	brain:	n/a	n/a
44	HCFC1	chr9:15513393-15513683	K562	blood:	n/a	n/a
45	SMC3	chr9:15513451-15513779	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr9:15513091-15513785	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr9:15512910-15513717	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr9:15513560-15513710	WERI-Rb-1	eye:	n/a	n/a
49	KAP1	chr9:15513299-15513861	HEK293	kidney:	n/a	n/a
50	CTCF	chr9:15513537-15513659	NHEK	skin:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:15512114..15513693-chr9:15523609..15526046,2	MCF-7	breast:
2	chr9:15510264..15513012-chr9:15513420..15518300,5	K562	blood:
3	chr9:15511224..15513667-chr9:15516724..15518268,2	K562	blood:
4	chr9:15510312..15513012-chr9:15513420..15514921,2	K562	blood:

No data

Variant related genes	Relation type
PSIP1	TF binding region
ENSG00000164985	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10124624	0.83[ASN][1000 genomes]
rs10283923	0.91[ASN][1000 genomes]
rs10283927	0.91[ASN][1000 genomes]
rs12336503	0.91[ASN][1000 genomes]
rs12336509	0.91[ASN][1000 genomes]
rs12339417	0.91[ASN][1000 genomes]
rs12682808	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12683553	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12684388	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12684477	1.00[AMR][1000 genomes]
rs12685218	1.00[AMR][1000 genomes]
rs12686545	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13248	0.89[EUR][1000 genomes]
rs16933311	0.91[ASN][1000 genomes]
rs16933320	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1828383	0.83[ASN][1000 genomes]
rs2175257	0.91[ASN][1000 genomes]
rs2277191	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2777950	0.89[ASN][1000 genomes]
rs28537229	0.88[ASN][1000 genomes]
rs3739801	0.89[EUR][1000 genomes]
rs4372097	1.00[AMR][1000 genomes]
rs55771541	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56361298	1.00[ASN][1000 genomes]
rs57467578	1.00[ASN][1000 genomes]
rs58607272	0.83[ASN][1000 genomes]
rs59639757	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60046377	0.89[EUR][1000 genomes]
rs62571010	0.91[ASN][1000 genomes]
rs62571022	1.00[ASN][1000 genomes]
rs62571023	1.00[ASN][1000 genomes]
rs62571024	1.00[ASN][1000 genomes]
rs62571027	0.94[ASN][1000 genomes]
rs62571030	0.84[ASN][1000 genomes]
rs62571031	0.86[ASN][1000 genomes]
rs62571032	0.86[ASN][1000 genomes]
rs6474927	0.84[ASN][1000 genomes]
rs7018658	0.91[ASN][1000 genomes]
rs7021153	0.87[ASN][1000 genomes]
rs73408328	1.00[ASN][1000 genomes]
rs73410253	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73410254	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73644655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73644657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7852774	0.83[ASN][1000 genomes]
rs7856710	0.86[ASN][1000 genomes]
rs7857933	0.94[ASN][1000 genomes]
rs7863046	0.84[ASN][1000 genomes]
rs7863139	0.91[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15511800-15513800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr9:15511800-15513800	Enhancers	Primary B cells from cord blood	blood
3	chr9:15511800-15513800	Enhancers	Primary B cells from peripheral blood	blood
4	chr9:15511800-15513800	Enhancers	Primary hematopoietic stem cells	blood
5	chr9:15511800-15513800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr9:15511800-15513800	Enhancers	Fetal Thymus	thymus
7	chr9:15512400-15515000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:15512600-15514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:15512800-15513800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:15513200-15513800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:15513200-15513800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr9:15513200-15513800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr9:15513400-15513800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr9:15513400-15514400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr9:15513400-15521800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:15513600-15513800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:15513600-15513800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:15513600-15513800	Enhancers	Thymus	Thymus
19	chr9:15513600-15513800	Enhancers	GM12878-XiMat	blood
20	chr9:15513600-15514000	Enhancers	K562	blood
21	chr9:15513600-15514800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr9:15513600-15515000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:15513600-15515000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:15513600-15516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:15513600-15521400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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