Variant report

Variant	rs146476440
Chromosome Location	chr11:104917432-104917433
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	CTCF	chr11:104917320-104917470	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr11:104917320-104917470	NHDF-neo	bronchial:	n/a	n/a
3	RCOR1	chr11:104917200-104918570	IMR90	lung:	n/a	n/a
4	MXI1	chr11:104917413-104918491	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
CARD16	TF binding region

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	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
7	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
8	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
9	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
10	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
11	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
12	nsv517089	chr11:104915563-104930676	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
13	nsv470	chr11:104916361-104961230	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104912600-104917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:104912600-104920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:104914600-104918000	Weak transcription	Gastric	stomach
4	chr11:104914600-104918000	Weak transcription	Spleen	Spleen
5	chr11:104915800-104918600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:104915800-104920400	Enhancers	HepG2	liver
7	chr11:104916000-104917800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:104916000-104918000	Weak transcription	Lung	lung
9	chr11:104916200-104917600	Enhancers	Fetal Stomach	stomach
10	chr11:104916200-104917800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:104916200-104918000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:104916200-104918200	Enhancers	Fetal Intestine Large	intestine
13	chr11:104916200-104920200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:104916400-104917600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:104916400-104917600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:104916400-104917600	Weak transcription	Colonic Mucosa	Colon
17	chr11:104916400-104917600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:104916400-104917600	Weak transcription	HMEC	breast
19	chr11:104916400-104917600	Enhancers	HUVEC	blood vessel
20	chr11:104916400-104917800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:104916400-104917800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:104916400-104917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:104916400-104918200	Enhancers	Fetal Lung	lung
24	chr11:104916400-104918200	Enhancers	Fetal Muscle Leg	muscle
25	chr11:104916400-104918200	Enhancers	Placenta	Placenta
26	chr11:104916400-104918200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:104916400-104918600	Enhancers	Osteobl	bone
28	chr11:104916400-104919800	Enhancers	Hela-S3	cervix
29	chr11:104916600-104917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:104916600-104917800	Weak transcription	Psoas Muscle	Psoas
31	chr11:104916600-104917800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:104916600-104917800	Weak transcription	Thymus	Thymus
33	chr11:104916600-104918000	Weak transcription	Right Atrium	heart
34	chr11:104916600-104918000	Enhancers	NHLF	lung
35	chr11:104916600-104918200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:104916800-104917600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:104916800-104917600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:104916800-104917600	Weak transcription	Fetal Intestine Small	intestine
39	chr11:104916800-104917800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:104916800-104917800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:104916800-104917800	Enhancers	Adipose Nuclei	Adipose
42	chr11:104916800-104918000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:104916800-104918200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr11:104916800-104918400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:104916800-104918800	Enhancers	NHDF-Ad	bronchial
46	chr11:104916800-104920400	Weak transcription	Small Intestine	intestine
47	chr11:104916800-104924400	Weak transcription	Left Ventricle	heart
48	chr11:104917000-104917800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:104917200-104917600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:104917200-104917600	Weak transcription	Ovary	ovary

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