Variant report

Variant	rs539454017
Chromosome Location	chr11:104896723-104896724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104887600-104896800	Weak transcription	Placenta	Placenta
2	chr11:104893600-104898800	Weak transcription	NHLF	lung
3	chr11:104893800-104897800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:104893800-104899200	Weak transcription	Fetal Lung	lung
5	chr11:104893800-104899800	Weak transcription	Colonic Mucosa	Colon
6	chr11:104893800-104900200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:104894000-104896800	Weak transcription	Ovary	ovary
8	chr11:104894000-104898400	Weak transcription	Stomach Mucosa	stomach
9	chr11:104894000-104903400	Weak transcription	GM12878-XiMat	blood
10	chr11:104894200-104896800	Weak transcription	Left Ventricle	heart
11	chr11:104894200-104896800	Weak transcription	Dnd41	blood
12	chr11:104894200-104898600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:104894200-104899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:104894200-104904200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:104894200-104905600	Weak transcription	Esophagus	oesophagus
16	chr11:104894400-104896800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:104894400-104900400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:104894800-104897000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:104894800-104900200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr11:104894800-104903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:104895000-104896800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:104895000-104899400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:104895000-104904200	Weak transcription	Psoas Muscle	Psoas
24	chr11:104895200-104897200	Weak transcription	Small Intestine	intestine
25	chr11:104895200-104898400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:104895200-104898600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:104895400-104897000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:104895400-104897000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:104895400-104898000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:104895400-104899800	Weak transcription	Spleen	Spleen
31	chr11:104895400-104899800	Weak transcription	NHEK	skin
32	chr11:104895600-104897600	Strong transcription	Lung	lung
33	chr11:104895600-104902000	Strong transcription	Adipose Nuclei	Adipose
34	chr11:104895800-104897800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr11:104895800-104898400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:104895800-104898400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:104895800-104898600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:104895800-104898600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:104895800-104902000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:104895800-104902200	Strong transcription	Primary B cells from cord blood	blood
41	chr11:104895800-104902200	Strong transcription	Liver	Liver
42	chr11:104895800-104904200	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:104896000-104896800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:104896000-104898000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:104896000-104898400	Weak transcription	HMEC	breast
46	chr11:104896000-104898800	Weak transcription	Fetal Intestine Small	intestine
47	chr11:104896000-104904200	Weak transcription	NHDF-Ad	bronchial
48	chr11:104896200-104898800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:104896200-104902200	Strong transcription	Primary T cells from cord blood	blood
50	chr11:104896200-104903800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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