Variant report

Variant	rs549645405
Chromosome Location	chr4:82054646-82054647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv20844	chr4:82054064-82055060	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82046000-82058600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:82049000-82057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:82049800-82054800	Weak transcription	Brain Germinal Matrix	brain
4	chr4:82049800-82065800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:82050200-82055200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:82050400-82056200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:82050600-82062000	Strong transcription	Fetal Intestine Large	intestine
8	chr4:82051600-82055200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:82052000-82058800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:82052000-82075000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:82052200-82056400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:82052200-82059000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:82052400-82074400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:82052600-82056600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:82052600-82057200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:82052600-82059200	Weak transcription	Fetal Intestine Small	intestine
17	chr4:82052600-82062800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:82052800-82056200	Strong transcription	NHDF-Ad	bronchial
19	chr4:82052800-82069800	Weak transcription	Fetal Brain Female	brain
20	chr4:82053400-82074800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:82054400-82055800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:82054400-82074400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:82054600-82065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:82054600-82075000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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