Variant report

Variant	rs72938506
Chromosome Location	chr11:66048452-66048453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66047636-66048864	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:66047765-66048503	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:66047872-66051632	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:66048409-66051000	A549	lung:	n/a	n/a
5	POLR2A	chr11:66047747-66050922	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:66048249-66048540	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:66048298-66051040	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:66048442-66051168	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:66047722-66051154	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:66048283-66048996	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:66047335-66048695	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:66047062-66051216	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:66047595-66050920	HepG2	liver:	n/a	n/a
14	RCOR1	chr11:66048290-66049148	IMR90	lung:	n/a	n/a
15	POLR2A	chr11:66047630-66050409	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:66048402-66051605	K562	blood:	n/a	n/a
17	POLR2A	chr11:66048376-66048811	U87	brain:	n/a	n/a
18	POLR2A	chr11:66048440-66049863	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:66048388-66050458	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:66047571..66049763-chr11:66079162..66081273,2	K562	blood:
2	chr11:66045260..66048745-chr11:66100560..66104011,3	K562	blood:
3	chr11:66047213..66049788-chr11:66097470..66100241,3	K562	blood:
4	chr11:66048311..66050019-chr11:66510408..66513165,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254452	TF binding region
ENSG00000245156	TF binding region
CNIH2	TF binding region
ENSG00000174791	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000254756	Chromatin interaction
ENSG00000173715	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1300706	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs496438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55640200	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55701638	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs559298	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs572827	0.88[EUR][1000 genomes]
rs72936614	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72936669	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72936679	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72936683	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72936686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72936687	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72936689	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66040800-66049600	Weak transcription	NHDF-Ad	bronchial
2	chr11:66042000-66055600	Weak transcription	Fetal Kidney	kidney
3	chr11:66042800-66050200	Weak transcription	K562	blood
4	chr11:66043000-66050200	Weak transcription	Hela-S3	cervix
5	chr11:66044200-66048600	Weak transcription	NHLF	lung
6	chr11:66044200-66050200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:66044200-66051800	Weak transcription	Fetal Lung	lung
8	chr11:66045400-66049200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:66045400-66050000	Weak transcription	Gastric	stomach
10	chr11:66045600-66049600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:66045600-66049600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:66045600-66049600	Weak transcription	GM12878-XiMat	blood
13	chr11:66045600-66050200	Weak transcription	Liver	Liver
14	chr11:66045600-66051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:66045600-66051800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:66045600-66051800	Weak transcription	Esophagus	oesophagus
17	chr11:66045600-66052000	Weak transcription	Pancreas	Pancrea
18	chr11:66046000-66049600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:66046000-66049800	Weak transcription	Left Ventricle	heart
20	chr11:66046000-66050800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:66046000-66052200	Weak transcription	HMEC	breast
22	chr11:66046000-66054000	Weak transcription	Aorta	Aorta
23	chr11:66046200-66050200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:66046400-66049200	Weak transcription	Right Ventricle	heart
25	chr11:66046400-66049400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:66046400-66049600	Weak transcription	Placenta	Placenta
27	chr11:66046400-66049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:66046400-66049600	Weak transcription	Dnd41	blood
29	chr11:66046400-66049800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr11:66046400-66050000	Weak transcription	Ovary	ovary
31	chr11:66046400-66050200	Enhancers	Fetal Muscle Leg	muscle
32	chr11:66046600-66049200	Weak transcription	Primary B cells from cord blood	blood
33	chr11:66046600-66049400	Weak transcription	Primary T cells from cord blood	blood
34	chr11:66046600-66052800	Weak transcription	Right Atrium	heart
35	chr11:66046800-66049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:66046800-66049200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:66046800-66049200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:66046800-66049200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:66046800-66049200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:66046800-66049200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:66046800-66049400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:66046800-66049400	Weak transcription	Brain Substantia Nigra	brain
43	chr11:66046800-66049600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:66046800-66050200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:66046800-66050800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:66046800-66051000	Enhancers	Fetal Thymus	thymus
47	chr11:66047000-66049000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:66047000-66049000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:66047000-66049200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:66047000-66049600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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