Variant report

Variant	rs1783732
Chromosome Location	chr11:66048114-66048115
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66047799-66048197	GM12892	blood:	n/a	n/a
2	CTCF	chr11:66048000-66048150	HPF	lung:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
3	POLR2A	chr11:66047636-66048864	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:66047765-66048503	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:66047872-66051632	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:66048011-66048216	K562	blood:	n/a	n/a
7	CTCF	chr11:66048060-66048210	HepG2	liver:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
8	POLR2A	chr11:66047772-66048119	A549	lung:	n/a	n/a
9	POLR2A	chr11:66047927-66048220	K562	blood:	n/a	n/a
10	POLR2A	chr11:66047747-66050922	Hela-S3	cervix:	n/a	n/a
11	MAFK	chr11:66047748-66048174	HepG2	liver:	n/a	chr11:66048077-66048087 chr11:66048076-66048090 chr11:66048080-66048089
12	CTCF	chr11:66048060-66048210	WI-38	lung:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
13	POLR2A	chr11:66047926-66048263	GM12878	blood:	n/a	n/a
14	CTCF	chr11:66048020-66048170	AG09309	skin:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
15	POLR2A	chr11:66047875-66048126	U87	brain:	n/a	n/a
16	POLR2A	chr11:66047722-66051154	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:66047745-66048269	H1-neurons	neurons:	n/a	n/a
18	CTCF	chr11:66048113-66048180	H1-hESC	embryonic stem cell:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
19	CTCF	chr11:66048100-66048250	AG04449	skin:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
20	CTCF	chr11:66048080-66048230	HBMEC	blood vessel:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
21	POLR2A	chr11:66047335-66048695	GM12891	blood:	n/a	n/a
22	CTCF	chr11:66048020-66048170	AG04449	skin:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
23	CTCF	chr11:66048110-66048172	Fibrobl	skin:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
24	POLR2A	chr11:66047832-66048126	U87	brain:	n/a	n/a
25	POLR2A	chr11:66047062-66051216	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:66047595-66050920	HepG2	liver:	n/a	n/a
27	CTCF	chr11:66048040-66048190	HAc	cerebellar:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
28	FOSL2	chr11:66047833-66048218	HepG2	liver:	n/a	chr11:66048077-66048089 chr11:66048025-66048033 chr11:66048078-66048088
29	POLR2A	chr11:66047747-66048336	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr11:66047630-66050409	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:66047974-66048120	MCF10A-Er-Src	breast:	n/a	n/a
32	MAFF	chr11:66048003-66048203	HepG2	liver:	n/a	chr11:66048076-66048090 chr11:66048077-66048095
33	MXI1	chr11:66047862-66048164	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:66048112-66048160	ProgFib	skin:	n/a	n/a
35	PBX3	chr11:66047936-66048120	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:66047840-66048224	U87	brain:	n/a	n/a
37	POLR2A	chr11:66047608-66048227	GM12878	blood:	n/a	n/a
38	CTCF	chr11:66048060-66048210	HBMEC	blood vessel:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
39	CTCF	chr11:66048100-66048250	SAEC	small airway:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
40	RFX5	chr11:66047907-66048186	HepG2	liver:	n/a	chr11:66048006-66048022 chr11:66048007-66048021 chr11:66048004-66048019 chr11:66048044-66048059
41	MAFK	chr11:66047775-66048213	HepG2	liver:	n/a	chr11:66048077-66048087 chr11:66048076-66048090 chr11:66048080-66048089
42	CTCF	chr11:66048040-66048190	HepG2	liver:	n/a	chr11:66048125-66048138 chr11:66048125-66048138 chr11:66048122-66048135 chr11:66048120-66048138
43	MAZ	chr11:66047943-66048166	HepG2	liver:	n/a	n/a

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:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1203801	1.00[YRI][hapmap]
rs2452687	1.00[YRI][hapmap]
rs471709	1.00[YRI][hapmap]
rs477001	1.00[YRI][hapmap]
rs505412	1.00[YRI][hapmap]
rs505642	1.00[YRI][hapmap]
rs510398	1.00[YRI][hapmap]
rs512316	1.00[YRI][hapmap]
rs515778	1.00[YRI][hapmap]
rs519911	1.00[YRI][hapmap]
rs527279	1.00[YRI][hapmap]
rs541954	1.00[YRI][hapmap]
rs547282	1.00[YRI][hapmap]
rs555527	1.00[YRI][hapmap]
rs555826	1.00[YRI][hapmap]
rs559298	1.00[YRI][hapmap]
rs561199	1.00[YRI][hapmap]
rs568423	1.00[YRI][hapmap]
rs571368	1.00[YRI][hapmap]
rs572697	1.00[YRI][hapmap]
rs948358	1.00[YRI][hapmap]

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	chr11:66042600-66048400	Weak transcription	A549	lung
4	chr11:66042800-66050200	Weak transcription	K562	blood
5	chr11:66043000-66050200	Weak transcription	Hela-S3	cervix
6	chr11:66044200-66048600	Weak transcription	NHLF	lung
7	chr11:66044200-66050200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:66044200-66051800	Weak transcription	Fetal Lung	lung
9	chr11:66045400-66049200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:66045400-66050000	Weak transcription	Gastric	stomach
11	chr11:66045600-66049600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:66045600-66049600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:66045600-66049600	Weak transcription	GM12878-XiMat	blood
14	chr11:66045600-66050200	Weak transcription	Liver	Liver
15	chr11:66045600-66051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:66045600-66051800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:66045600-66051800	Weak transcription	Esophagus	oesophagus
18	chr11:66045600-66052000	Weak transcription	Pancreas	Pancrea
19	chr11:66046000-66049600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:66046000-66049800	Weak transcription	Left Ventricle	heart
21	chr11:66046000-66050800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:66046000-66052200	Weak transcription	HMEC	breast
23	chr11:66046000-66054000	Weak transcription	Aorta	Aorta
24	chr11:66046200-66050200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:66046400-66048400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:66046400-66049200	Weak transcription	Right Ventricle	heart
27	chr11:66046400-66049400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:66046400-66049600	Weak transcription	Placenta	Placenta
29	chr11:66046400-66049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:66046400-66049600	Weak transcription	Dnd41	blood
31	chr11:66046400-66049800	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr11:66046400-66050000	Weak transcription	Ovary	ovary
33	chr11:66046400-66050200	Enhancers	Fetal Muscle Leg	muscle
34	chr11:66046600-66048200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr11:66046600-66049200	Weak transcription	Primary B cells from cord blood	blood
36	chr11:66046600-66049400	Weak transcription	Primary T cells from cord blood	blood
37	chr11:66046600-66052800	Weak transcription	Right Atrium	heart
38	chr11:66046800-66048200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr11:66046800-66049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:66046800-66049200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:66046800-66049200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:66046800-66049200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:66046800-66049200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:66046800-66049200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:66046800-66049400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:66046800-66049400	Weak transcription	Brain Substantia Nigra	brain
47	chr11:66046800-66049600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:66046800-66050200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:66046800-66050800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:66046800-66051000	Enhancers	Fetal Thymus	thymus

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