Variant report

Variant	rs4645933
Chromosome Location	chr11:65485120-65485121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65483860-65485516	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:65485114-65485195	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:65484626-65488422	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:65483754-65488434	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:65483183-65488410	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:65484727-65485469	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:65485053-65485270	HCT-116	colon:	n/a	n/a
8	POLR2A	chr11:65484626-65486228	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:65485103-65486882	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:65485050-65488450	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:65483426-65485403	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:65483942-65486065	U87	brain:	n/a	n/a
13	POLR2A	chr11:65483658-65486919	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:65481505-65488416	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr11:65483604-65486737	K562	blood:	n/a	n/a
16	POLR2A	chr11:65483145-65488647	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:65483964-65486065	U87	brain:	n/a	n/a
18	POLR2A	chr11:65483500-65488442	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:65483703-65488410	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:65483520-65488380	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:65483123-65488429	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:65483955-65486163	U87	brain:	n/a	n/a
23	POLR2A	chr11:65483349-65488585	K562	blood:	n/a	n/a
24	POLR2A	chr11:65483670-65485129	K562	blood:	n/a	n/a
25	POLR2A	chr11:65483043-65488428	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr11:65483902-65486092	HEK293	kidney:	n/a	n/a
27	POLR2A	chr11:65484306-65486588	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:65483491-65486183	U87	brain:	n/a	n/a
29	POLR2A	chr11:65483128-65488403	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr11:65483774-65488411	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:65483685-65488452	HL-60	blood:	n/a	n/a
32	POLR2A	chr11:65484699-65486000	K562	blood:	n/a	n/a
33	POLR2A	chr11:65483333-65485260	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65484089..65489445-chr11:65545173..65550834,9	K562	blood:
2	chr11:65428776..65430910-chr11:65484370..65486909,4	MCF-7	breast:
3	chr11:65485004..65489716-chr11:65621545..65626984,9	K562	blood:
4	chr11:65482499..65489390-chr11:65622947..65628870,15	MCF-7	breast:
5	chr11:65482061..65486231-chr11:65638918..65641829,3	K562	blood:
6	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
7	chr11:65484089..65489642-chr11:65545405..65550834,8	K562	blood:
8	chr11:65477884..65488010-chr11:65623516..65630419,28	MCF-7	breast:

No data

Variant related genes	Relation type
KAT5	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000173039	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1073602	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1074155	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1074156	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10791822	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896025	0.92[ASN][1000 genomes]
rs10896026	0.92[ASN][1000 genomes]
rs10896028	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896032	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896033	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896034	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896035	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896037	0.83[ASN][1000 genomes]
rs10896038	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11227251	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227254	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227279	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11227281	0.91[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227299	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs11532071	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11537193	0.83[ASN][1000 genomes]
rs11568300	0.93[ASN][1000 genomes]
rs11600918	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11601509	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11604568	0.83[ASN][1000 genomes]
rs11606947	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12225620	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12289836	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576766	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12802391	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1466462	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs2236682	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306362	0.81[ASN][1000 genomes]
rs2306364	0.83[CHB][hapmap]
rs28464085	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4014192	0.83[ASN][1000 genomes]
rs4014195	0.87[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs4645927	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930312	0.83[ASN][1000 genomes]
rs4930313	0.83[ASN][1000 genomes]
rs56686587	0.83[ASN][1000 genomes]
rs60626743	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61893835	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895665	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591185	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591187	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6591188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7110576	0.83[ASN][1000 genomes]
rs7115734	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7120713	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7123489	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs746429	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[ASN][1000 genomes]
rs7924510	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7930301	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7947604	0.91[CEU][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952133	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs948494	0.86[ASW][hapmap];0.91[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];0.82[TSI][hapmap]
rs9666878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4645933	DKFZp761E198	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65480000-65487400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65480600-65485200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:65480600-65485800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:65480600-65486400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:65480600-65486600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:65480600-65486800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:65480600-65486800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:65480800-65485400	Strong transcription	Psoas Muscle	Psoas
9	chr11:65480800-65485600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:65480800-65485600	Strong transcription	Liver	Liver
11	chr11:65480800-65485600	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr11:65480800-65485600	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr11:65480800-65485800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:65480800-65485800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:65480800-65486000	Strong transcription	Thymus	Thymus
16	chr11:65480800-65486200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:65480800-65486200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:65480800-65486200	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr11:65480800-65486200	Strong transcription	Lung	lung
20	chr11:65480800-65486200	Strong transcription	NHEK	skin
21	chr11:65480800-65486200	Strong transcription	NHLF	lung
22	chr11:65480800-65486400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65480800-65486400	Strong transcription	Ovary	ovary
24	chr11:65480800-65486600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:65480800-65486600	Strong transcription	A549	lung
26	chr11:65480800-65486800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr11:65480800-65486800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr11:65480800-65486800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:65480800-65486800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:65480800-65486800	Strong transcription	Aorta	Aorta
31	chr11:65480800-65487000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:65481000-65485200	Strong transcription	HepG2	liver
33	chr11:65481000-65485400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:65481000-65485400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:65481000-65485600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:65481000-65485600	Strong transcription	Colon Smooth Muscle	Colon
37	chr11:65481000-65485800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:65481000-65485800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:65481000-65485800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:65481000-65485800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:65481000-65485800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:65481000-65485800	Strong transcription	Adipose Nuclei	Adipose
43	chr11:65481000-65485800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:65481000-65485800	Strong transcription	Fetal Thymus	thymus
45	chr11:65481000-65485800	Strong transcription	Gastric	stomach
46	chr11:65481000-65485800	Strong transcription	HSMM	muscle
47	chr11:65481000-65485800	Strong transcription	NHDF-Ad	bronchial
48	chr11:65481000-65486000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:65481000-65486000	Strong transcription	Primary B cells from cord blood	blood
50	chr11:65481000-65486000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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