Variant report

Variant	rs7925706
Chromosome Location	chr11:104905709-104905710
allele	C/T
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	SMC3	chr11:104905673-104906090	Hela-S3	cervix:	n/a	n/a
2	BATF	chr11:104905693-104906006	GM12878	blood:	n/a	n/a
3	SPI1	chr11:104905500-104905715	GM12891	blood:	n/a	chr11:104905697-104905710
4	CEBPB	chr11:104905287-104906325	Hela-S3	cervix:	n/a	chr11:104905915-104905932 chr11:104905600-104905613 chr11:104905919-104905930
5	POLR2A	chr11:104905605-104906164	HL-60	blood:	n/a	n/a
6	POU2F2	chr11:104905662-104906085	GM12891	blood:	n/a	chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905938-104905952 chr11:104905938-104905960 chr11:104905941-104905955
7	EP300	chr11:104905472-104906162	Hela-S3	cervix:	n/a	chr11:104905633-104905647
8	POLR2A	chr11:104905374-104906718	MCF10A-Er-Src	breast:	n/a	n/a
9	TAF1	chr11:104905661-104905979	GM12878	blood:	n/a	n/a
10	POU2F2	chr11:104905672-104906115	GM12891	blood:	n/a	chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905938-104905952 chr11:104905938-104905960 chr11:104905941-104905955
11	EBF1	chr11:104905700-104906374	GM12878	blood:	n/a	n/a
12	MAX	chr11:104905682-104906147	Hela-S3	cervix:	n/a	n/a
13	IRF4	chr11:104905632-104906040	GM12878	blood:	n/a	chr11:104905869-104905883
14	TAF1	chr11:104905615-104906031	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:104905674-104906021	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:104905691-104906043	GM12891	blood:	n/a	n/a
17	TAF1	chr11:104905665-104905990	GM12891	blood:	n/a	n/a
18	TAF1	chr11:104905636-104906003	GM12891	blood:	n/a	n/a
19	STAT3	chr11:104905455-104906118	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710
20	POLR2A	chr11:104905673-104906322	MCF10A-Er-Src	breast:	n/a	n/a
21	POU2F2	chr11:104905594-104906204	GM12878	blood:	n/a	chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905938-104905952 chr11:104905938-104905960 chr11:104905941-104905955
22	POLR2A	chr11:104905671-104905990	Hela-S3	cervix:	n/a	n/a
23	SPI1	chr11:104905408-104906113	HL-60	blood:	n/a	chr11:104905697-104905710
24	STAT3	chr11:104905499-104906107	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710
25	POLR2A	chr11:104905651-104906028	GM12878	blood:	n/a	n/a
26	BATF	chr11:104905695-104905944	GM12878	blood:	n/a	n/a
27	REST	chr11:104905440-104906126	HL-60	blood:	n/a	n/a
28	YY1	chr11:104905665-104905921	GM12878	blood:	n/a	n/a
29	PRDM1	chr11:104905685-104906096	Hela-S3	cervix:	n/a	chr11:104905870-104905884
30	GTF2F1	chr11:104905601-104906124	Hela-S3	cervix:	n/a	n/a
31	SPI1	chr11:104905374-104905745	GM12891	blood:	n/a	chr11:104905697-104905710
32	POLR2A	chr11:104905497-104905989	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:104905605-104906063	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:104905702-104906053	GM12892	blood:	n/a	n/a
35	POLR2A	chr11:104905633-104906072	Hela-S3	cervix:	n/a	n/a
36	STAT3	chr11:104905691-104906100	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710
37	POLR2A	chr11:104905518-104906052	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:104905673-104905989	GM12891	blood:	n/a	n/a
39	TBP	chr11:104905695-104906084	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:104905689-104906026	GM12892	blood:	n/a	n/a
41	TAF1	chr11:104905646-104905914	GM12892	blood:	n/a	n/a
42	CEBPB	chr11:104905228-104906180	IMR90	lung:	n/a	chr11:104905915-104905932 chr11:104905600-104905613 chr11:104905919-104905930

Variant related genes	Relation type
CASP1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11226596	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11226599	0.83[AMR][1000 genomes]
rs12291685	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7101557	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7108284	0.81[AFR][1000 genomes]
rs7108581	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7122518	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7127485	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7933945	0.81[AFR][1000 genomes];0.83[AMR][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	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv468863	chr11:104875261-104918517	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	nsv556219	chr11:104875261-104918517	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3419177	chr11:104905032-104915298	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104899600-104909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:104902200-104906800	Weak transcription	Gastric	stomach
3	chr11:104903000-104906000	Active TSS	Primary monocytes fromperipheralblood	blood
4	chr11:104903000-104906000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:104903200-104906200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:104903200-104906200	Flanking Active TSS	Dnd41	blood
7	chr11:104903200-104906400	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:104903400-104906000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:104903400-104906000	Active TSS	GM12878-XiMat	blood
10	chr11:104903400-104906200	Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:104903400-104906400	Active TSS	Right Atrium	heart
12	chr11:104903600-104906200	Active TSS	Brain Hippocampus Middle	brain
13	chr11:104904000-104905800	Active TSS	Colonic Mucosa	Colon
14	chr11:104904000-104906000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:104904000-104906200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:104904200-104906000	Active TSS	Brain Anterior Caudate	brain
17	chr11:104904200-104906000	Active TSS	Colon Smooth Muscle	Colon
18	chr11:104904200-104906200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:104904200-104906200	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:104904200-104906200	Active TSS	Stomach Smooth Muscle	stomach
21	chr11:104904400-104905800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr11:104904400-104905800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr11:104904400-104906000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:104904400-104906000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:104904400-104906000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:104904400-104906000	Active TSS	Duodenum Mucosa	Duodenum
27	chr11:104904400-104906000	Active TSS	Fetal Intestine Small	intestine
28	chr11:104904400-104906000	Active TSS	Lung	lung
29	chr11:104904400-104906200	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr11:104904400-104906200	Active TSS	Fetal Muscle Leg	muscle
31	chr11:104904400-104906200	Active TSS	Left Ventricle	heart
32	chr11:104904400-104906400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr11:104904400-104914200	Weak transcription	Spleen	Spleen
34	chr11:104904600-104905800	Active TSS	Placenta	Placenta
35	chr11:104904600-104906000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:104904600-104906000	Active TSS	Brain Substantia Nigra	brain
37	chr11:104904600-104906000	Active TSS	Fetal Intestine Large	intestine
38	chr11:104904600-104906200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:104904600-104906200	Active TSS	Brain Angular Gyrus	brain
40	chr11:104904800-104905800	Active TSS	Small Intestine	intestine
41	chr11:104904800-104906000	Active TSS	Adipose Nuclei	Adipose
42	chr11:104904800-104906000	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:104904800-104906200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:104904800-104906200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:104904800-104906200	Active TSS	Thymus	Thymus
46	chr11:104905000-104905800	Active TSS	Liver	Liver
47	chr11:104905000-104906000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:104905000-104906000	Active TSS	Primary hematopoietic stem cells	blood
49	chr11:104905000-104906000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:104905000-104906000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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