Variant report

Variant	rs3094303
Chromosome Location	chr11:75114071-75114072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:75113626-75114814	K562	blood:	n/a	n/a
2	POLR2A	chr11:75112957-75114691	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:75112622-75115811	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:75112766-75115799	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:75110119-75120367	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:75110255-75120255	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:75113828-75114231	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:75112886-75116062	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:75113850-75114924	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr11:75113390-75114390	K562	blood:	n/a	n/a
11	POLR2A	chr11:75113955-75114619	HCT-116	colon:	n/a	n/a
12	POLR2A	chr11:75112838-75114697	HL-60	blood:	n/a	n/a
13	POLR2A	chr11:75112849-75114731	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:75113933-75114755	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:75112455-75114654	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:75112762-75116392	GM12892	blood:	n/a	n/a
17	MAFF	chr11:75113841-75114659	K562	blood:	n/a	n/a
18	POLR2A	chr11:75113822-75114551	MCF-7	breast:	n/a	n/a
19	POLR2A	chr11:75114033-75114392	GM12878	blood:	n/a	n/a
20	HEY1	chr11:75114049-75114461	K562	blood:	n/a	n/a
21	POLR2A	chr11:75113454-75114874	GM12892	blood:	n/a	n/a
22	POLR2A	chr11:75110310-75118425	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:75112912-75114827	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:75112854-75114370	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:75112844-75116330	A549	lung:	n/a	n/a
26	POLR2A	chr11:75112906-75114559	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:75113516-75114379	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:75112221-75114842	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:75113931-75114678	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:75110219-75118608	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:75113618-75114661	K562	blood:	n/a	n/a
32	POLR2A	chr11:75112207-75116154	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:75112867-75116531	K562	blood:	n/a	n/a
34	POLR2A	chr11:75113145-75115028	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr11:75113501-75114973	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr11:75110149-75120406	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr11:75112955-75114725	GM12891	blood:	n/a	n/a
38	MXI1	chr11:75113837-75114334	K562	blood:	n/a	n/a
39	POLR2A	chr11:75110164-75120300	PANC-1	pancreas:	n/a	n/a
40	ATF2	chr11:75113917-75114316	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:75110166-75120422	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr11:75114054-75114295	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr11:75112941-75116112	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:75112892-75116012	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:75113444-75114743	HL-60	blood:	n/a	n/a
46	POLR2A	chr11:75112090-75116413	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:75110217-75116378	GM12892	blood:	n/a	n/a
48	POLR2A	chr11:75112922-75120136	K562	blood:	n/a	n/a
49	NFATC1	chr11:75113689-75114107	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:75110277-75120208	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75112349..75114829-chr11:75258143..75260028,2	K562	blood:
2	chr11:75113404..75115448-chr11:75272295..75274339,3	K562	blood:
3	chr11:75110249..75114230-chr11:75150071..75153287,3	K562	blood:
4	chr11:75113404..75114962-chr11:75272295..75274165,2	K562	blood:
5	chr11:75112364..75115138-chr11:75178491..75181185,2	K562	blood:

No data

Variant related genes	Relation type
SNORD15B	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11539810	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12272818	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12274033	0.90[JPT][hapmap]
rs12289289	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs12290287	0.88[JPT][hapmap]
rs12292210	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293207	0.90[JPT][hapmap]
rs12795298	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12798081	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3094304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34503349	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34593568	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35378921	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75110600-75114800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:75110800-75114400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:75110800-75114600	Transcr. at gene 5' and 3'	A549	lung
4	chr11:75111000-75114200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
5	chr11:75111000-75114200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr11:75111000-75114200	Transcr. at gene 5' and 3'	NHEK	skin
7	chr11:75111200-75114200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr11:75111200-75114400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:75111200-75115600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
10	chr11:75111400-75114200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr11:75111400-75115400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:75111600-75114600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:75111800-75116200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:75112000-75114200	Genic enhancers	Fetal Lung	lung
15	chr11:75112000-75114400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:75112000-75114400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:75112000-75114600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr11:75112000-75115400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:75112000-75115800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:75112200-75114200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
21	chr11:75112200-75114400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:75112200-75114400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:75112200-75114400	Transcr. at gene 5' and 3'	NH-A	brain
24	chr11:75112200-75114600	Transcr. at gene 5' and 3'	Hela-S3	cervix
25	chr11:75112400-75114200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:75112400-75114200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:75112400-75114200	Transcr. at gene 5' and 3'	K562	blood
28	chr11:75112400-75114400	Genic enhancers	Primary hematopoietic stem cells	blood
29	chr11:75112400-75114400	Genic enhancers	Fetal Muscle Leg	muscle
30	chr11:75112400-75114600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr11:75112400-75114600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:75112400-75114600	Genic enhancers	Fetal Heart	heart
33	chr11:75112400-75115000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:75112400-75115600	Genic enhancers	Pancreas	Pancrea
35	chr11:75112400-75115600	Genic enhancers	NHDF-Ad	bronchial
36	chr11:75112400-75117600	Strong transcription	Rectal Smooth Muscle	rectum
37	chr11:75112400-75120200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:75112600-75114400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:75112600-75114600	Genic enhancers	Fetal Thymus	thymus
40	chr11:75112600-75114600	Genic enhancers	Psoas Muscle	Psoas
41	chr11:75112600-75115600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:75112600-75115600	Genic enhancers	Primary T cells from cord blood	blood
43	chr11:75112600-75116000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:75112600-75116800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:75112600-75117000	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr11:75112600-75117000	Strong transcription	Right Ventricle	heart
47	chr11:75112600-75117600	Strong transcription	Brain Cingulate Gyrus	brain
48	chr11:75112600-75120000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:75112800-75114200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:75112800-75114600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood

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