Variant report

Variant	rs576127890
Chromosome Location	chr11:104905516-104905517
allele	A/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	SPI1	chr11:104905500-104905715	GM12891	blood:	n/a	chr11:104905697-104905710
2	CEBPB	chr11:104905287-104906325	Hela-S3	cervix:	n/a	chr11:104905915-104905932 chr11:104905600-104905613 chr11:104905919-104905930
3	EP300	chr11:104905472-104906162	Hela-S3	cervix:	n/a	chr11:104905633-104905647
4	POLR2A	chr11:104905374-104906718	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr11:104905455-104906118	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710
6	SPI1	chr11:104905408-104906113	HL-60	blood:	n/a	chr11:104905697-104905710
7	STAT3	chr11:104905499-104906107	MCF10A-Er-Src	breast:	n/a	chr11:104905871-104905882 chr11:104905698-104905710
8	REST	chr11:104905440-104906126	HL-60	blood:	n/a	n/a
9	SPI1	chr11:104905374-104905745	GM12891	blood:	n/a	chr11:104905697-104905710
10	POLR2A	chr11:104905497-104905989	GM12892	blood:	n/a	n/a
11	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: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv975223	chr11:104904476-104905607	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
14	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104894200-104905600	Weak transcription	Esophagus	oesophagus
2	chr11:104897800-104905600	Weak transcription	Ovary	ovary
3	chr11:104899400-104905600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:104899600-104909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:104902200-104906800	Weak transcription	Gastric	stomach
6	chr11:104903000-104906000	Active TSS	Primary monocytes fromperipheralblood	blood
7	chr11:104903000-104906000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr11:104903200-104906200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:104903200-104906200	Flanking Active TSS	Dnd41	blood
10	chr11:104903200-104906400	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:104903400-104906000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:104903400-104906000	Active TSS	GM12878-XiMat	blood
13	chr11:104903400-104906200	Active TSS	Primary T cells fromperipheralblood	blood
14	chr11:104903400-104906400	Active TSS	Right Atrium	heart
15	chr11:104903600-104906200	Active TSS	Brain Hippocampus Middle	brain
16	chr11:104904000-104905800	Active TSS	Colonic Mucosa	Colon
17	chr11:104904000-104906000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:104904000-104906200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:104904200-104906000	Active TSS	Brain Anterior Caudate	brain
20	chr11:104904200-104906000	Active TSS	Colon Smooth Muscle	Colon
21	chr11:104904200-104906200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:104904200-104906200	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:104904200-104906200	Active TSS	Stomach Smooth Muscle	stomach
24	chr11:104904400-104905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:104904400-104905800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:104904400-104905800	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:104904400-104906000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:104904400-104906000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:104904400-104906000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:104904400-104906000	Active TSS	Duodenum Mucosa	Duodenum
31	chr11:104904400-104906000	Active TSS	Fetal Intestine Small	intestine
32	chr11:104904400-104906000	Active TSS	Lung	lung
33	chr11:104904400-104906200	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:104904400-104906200	Active TSS	Fetal Muscle Leg	muscle
35	chr11:104904400-104906200	Active TSS	Left Ventricle	heart
36	chr11:104904400-104906400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr11:104904400-104914200	Weak transcription	Spleen	Spleen
38	chr11:104904600-104905800	Active TSS	Placenta	Placenta
39	chr11:104904600-104906000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:104904600-104906000	Active TSS	Brain Substantia Nigra	brain
41	chr11:104904600-104906000	Active TSS	Fetal Intestine Large	intestine
42	chr11:104904600-104906200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:104904600-104906200	Active TSS	Brain Angular Gyrus	brain
44	chr11:104904800-104905800	Active TSS	Small Intestine	intestine
45	chr11:104904800-104906000	Active TSS	Adipose Nuclei	Adipose
46	chr11:104904800-104906000	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:104904800-104906200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:104904800-104906200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:104904800-104906200	Active TSS	Thymus	Thymus
50	chr11:104905000-104905600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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