Variant report

Variant	rs200219743
Chromosome Location	chr11:104905858-104905859
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	POLR2A	chr11:104905806-104906023	HUVEC	blood vessel:	n/a	n/a
3	BATF	chr11:104905693-104906006	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:104905711-104905934	U87	brain:	n/a	n/a
5	CEBPB	chr11:104905287-104906325	Hela-S3	cervix:	n/a	chr11:104905915-104905932 chr11:104905600-104905613 chr11:104905919-104905930
6	POLR2A	chr11:104905605-104906164	HL-60	blood:	n/a	n/a
7	FOS	chr11:104905741-104906083	MCF10A-Er-Src	breast:	n/a	n/a
8	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
9	EP300	chr11:104905472-104906162	Hela-S3	cervix:	n/a	chr11:104905633-104905647
10	POLR2A	chr11:104905374-104906718	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:104905740-104905934	GM12878	blood:	n/a	n/a
12	POU2F2	chr11:104905768-104905995	GM12878	blood:	n/a	chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905940-104905953 chr11:104905938-104905952 chr11:104905938-104905960 chr11:104905941-104905955
13	TAF1	chr11:104905661-104905979	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:104905713-104906010	GM12891	blood:	n/a	n/a
15	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
16	CEBPB	chr11:104905749-104906194	HepG2	liver:	n/a	chr11:104905915-104905932 chr11:104905919-104905930
17	MYC	chr11:104905731-104906147	MCF10A-Er-Src	breast:	n/a	n/a
18	EBF1	chr11:104905700-104906374	GM12878	blood:	n/a	n/a
19	FOS	chr11:104905726-104906093	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr11:104905682-104906147	Hela-S3	cervix:	n/a	n/a
21	IRF4	chr11:104905632-104906040	GM12878	blood:	n/a	chr11:104905869-104905883
22	TAF1	chr11:104905615-104906031	GM12878	blood:	n/a	n/a
23	E2F4	chr11:104905789-104906025	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:104905674-104906021	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:104905691-104906043	GM12891	blood:	n/a	n/a
26	TAF1	chr11:104905665-104905990	GM12891	blood:	n/a	n/a
27	TAF1	chr11:104905636-104906003	GM12891	blood:	n/a	n/a
28	STAT3	chr11:104905455-104906118	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710
29	FOS	chr11:104905732-104906076	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:104905721-104905943	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:104905673-104906322	MCF10A-Er-Src	breast:	n/a	n/a
32	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
33	STAT3	chr11:104905724-104906165	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882
34	POLR2A	chr11:104905671-104905990	Hela-S3	cervix:	n/a	n/a
35	SPI1	chr11:104905408-104906113	HL-60	blood:	n/a	chr11:104905697-104905710
36	FOS	chr11:104905746-104906083	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr11:104905499-104906107	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710
38	CUX1	chr11:104905825-104905994	GM12878	blood:	n/a	n/a
39	TAF1	chr11:104905739-104906020	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:104905651-104906028	GM12878	blood:	n/a	n/a
41	YY1	chr11:104905724-104905978	GM12892	blood:	n/a	n/a
42	BATF	chr11:104905695-104905944	GM12878	blood:	n/a	n/a
43	REST	chr11:104905440-104906126	HL-60	blood:	n/a	n/a
44	YY1	chr11:104905665-104905921	GM12878	blood:	n/a	n/a
45	PRDM1	chr11:104905685-104906096	Hela-S3	cervix:	n/a	chr11:104905870-104905884
46	RAD21	chr11:104905717-104906058	Hela-S3	cervix:	n/a	n/a
47	GTF2F1	chr11:104905601-104906124	Hela-S3	cervix:	n/a	n/a
48	MYC	chr11:104905716-104906176	MCF10A-Er-Src	breast:	n/a	n/a
49	TBP	chr11:104905722-104906061	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:104905766-104905934	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:104905834-104905884	HL-60	blood:	n/a
2	chr11:104905834-104905884	SK-N-SH	brain:	n/a
3	chr11:104905834-104905884	ECC-1	luminal epithelium:	n/a
4	chr11:104905834-104905884	GM12891	blood:	n/a
5	chr11:104905834-104905884	HMEC	breast:	n/a
6	chr11:104905834-104905884	GM06990	blood:	n/a
7	chr11:104905834-104905884	BJ	skin:	n/a
8	chr11:104905834-104905884	SK-N-SH_RA	brain:	n/a
9	chr11:104905834-104905884	HRCEpiC	kidney:	n/a
10	chr11:104905834-104905884	GM12878	blood:	n/a
11	chr11:104905834-104905884	AG09309	skin:	n/a
12	chr11:104905834-104905884	T-47D	breast:	n/a
13	chr11:104905834-104905884	HUVEC	blood vessel:	n/a
14	chr11:104905834-104905884	Caco-2	colon:	n/a
15	chr11:104905834-104905884	HCF	heart:	n/a
16	chr11:104905834-104905884	ovcar-3	ovarian:	n/a
17	chr11:104905834-104905884	U87	brain:	n/a
18	chr11:104905834-104905884	NT2-D1	testis:	n/a
19	chr11:104905834-104905884	HepG2	liver:	n/a
20	chr11:104905834-104905884	K562	blood:	n/a
21	chr11:104905834-104905884	PANC-1	pancreas:	n/a
22	chr11:104905834-104905884	RPTEC	kidney:	n/a
23	chr11:104905834-104905884	HEK293	kidney:	embryo
24	chr11:104905834-104905884	HEEpiC	esophagus:	n/a
25	chr11:104905834-104905884	AoSMC	blood vessel:	n/a
26	chr11:104905834-104905884	MCF-7	breast:	n/a
27	chr11:104905834-104905884	HNPCEpiC	eye:	n/a
28	chr11:104905834-104905884	NHDF-neo	bronchial:	n/a
29	chr11:104905834-104905884	MCF10A-Er-Src	breast:	n/a
30	chr11:104905834-104905884	PFSK-1	brain:	n/a
31	chr11:104905834-104905884	HRPEpiC	eye:	n/a
32	chr11:104905834-104905884	GM12892	blood:	n/a
33	chr11:104905834-104905884	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:104905834-104905884	LNCaP	prostate:	n/a
35	chr11:104905834-104905884	SK-N-MC	brain:	n/a
36	chr11:104905834-104905884	NB4	blood:	n/a
37	chr11:104905834-104905884	IMR90	lung:	fetal
38	chr11:104905834-104905884	AG04450	lung:	fetal
39	chr11:104905834-104905884	HAEpiC	amniotic membrane:	n/a
40	chr11:104905834-104905884	A549	lung:	n/a
41	chr11:104905834-104905884	BE2_C	brain:	n/a
42	chr11:104905834-104905884	AG04449	skin:	fetal
43	chr11:104905834-104905884	ProgFib	skin:	n/a
44	chr11:104905834-104905884	HCM	heart:	n/a
45	chr11:104905834-104905884	Hela-S3	cervix:	n/a
46	chr11:104905834-104905884	AG09319	gingival:	n/a
47	chr11:104905834-104905884	HRE	kidney:	n/a
48	chr11:104905834-104905884	GM19239	blood:	n/a
49	chr11:104905834-104905884	SKMC	muscle:	n/a
50	chr11:104905834-104905884	Jurkat	blood:	n/a

Variant related genes	Relation type
CASP1	TF binding region
CASP1	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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:87 , 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	chr11:104904000-104906000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:104904000-104906200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:104904200-104906000	Active TSS	Brain Anterior Caudate	brain
16	chr11:104904200-104906000	Active TSS	Colon Smooth Muscle	Colon
17	chr11:104904200-104906200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:104904200-104906200	Active TSS	Brain Cingulate Gyrus	brain
19	chr11:104904200-104906200	Active TSS	Stomach Smooth Muscle	stomach
20	chr11:104904400-104906000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:104904400-104906000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:104904400-104906000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:104904400-104906000	Active TSS	Duodenum Mucosa	Duodenum
24	chr11:104904400-104906000	Active TSS	Fetal Intestine Small	intestine
25	chr11:104904400-104906000	Active TSS	Lung	lung
26	chr11:104904400-104906200	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr11:104904400-104906200	Active TSS	Fetal Muscle Leg	muscle
28	chr11:104904400-104906200	Active TSS	Left Ventricle	heart
29	chr11:104904400-104906400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:104904400-104914200	Weak transcription	Spleen	Spleen
31	chr11:104904600-104906000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:104904600-104906000	Active TSS	Brain Substantia Nigra	brain
33	chr11:104904600-104906000	Active TSS	Fetal Intestine Large	intestine
34	chr11:104904600-104906200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:104904600-104906200	Active TSS	Brain Angular Gyrus	brain
36	chr11:104904800-104906000	Active TSS	Adipose Nuclei	Adipose
37	chr11:104904800-104906000	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:104904800-104906200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:104904800-104906200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:104904800-104906200	Active TSS	Thymus	Thymus
41	chr11:104905000-104906000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:104905000-104906000	Active TSS	Primary hematopoietic stem cells	blood
43	chr11:104905000-104906000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr11:104905000-104906000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:104905000-104906000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr11:104905000-104906000	Active TSS	NHLF	lung
47	chr11:104905000-104906200	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr11:104905000-104906400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr11:104905200-104906000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:104905200-104906000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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