Variant report

Variant	rs540763988
Chromosome Location	chr5:5448122-5448123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5430679..5433262-chr5:5446134..5448156,2	K562	blood:
2	chr5:5447256..5448838-chr5:5461165..5463148,2	K562	blood:
3	chr5:5443497..5445095-chr5:5445391..5448281,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021802	chr5:5415877-5452886	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv528309	chr5:5434937-5452839	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5430200-5478800	Weak transcription	Stomach Mucosa	stomach
2	chr5:5430800-5460800	Weak transcription	Fetal Heart	heart
3	chr5:5433200-5456800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:5433600-5455400	Weak transcription	Small Intestine	intestine
6	chr5:5434000-5460000	Weak transcription	Psoas Muscle	Psoas
7	chr5:5435000-5454200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:5436600-5468400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:5436600-5470600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:5436600-5471400	Strong transcription	Hela-S3	cervix
11	chr5:5436600-5478200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:5436800-5470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:5436800-5470600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:5437200-5470600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:5437200-5477000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:5437400-5470800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:5437400-5480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:5437600-5452600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:5437600-5470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:5437800-5470600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:5439400-5451800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:5439600-5470600	Strong transcription	Dnd41	blood
23	chr5:5439800-5451000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:5440000-5451200	Strong transcription	Fetal Intestine Large	intestine
25	chr5:5440000-5470600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr5:5440200-5450800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:5440200-5453400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:5440600-5456800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:5440800-5450600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:5440800-5451000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:5440800-5460200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:5440800-5471600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:5441000-5450400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:5441000-5451800	Strong transcription	Placenta	Placenta
35	chr5:5441200-5451200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:5441200-5468800	Strong transcription	Liver	Liver
37	chr5:5441400-5449800	Strong transcription	Fetal Lung	lung
38	chr5:5441400-5450400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr5:5441400-5450600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:5441400-5450800	Strong transcription	HSMMtube	muscle
41	chr5:5441400-5468400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:5441400-5468800	Strong transcription	Adipose Nuclei	Adipose
43	chr5:5441400-5469000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:5441400-5470400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:5441600-5450800	Strong transcription	Primary T cells from cord blood	blood
46	chr5:5441600-5451600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:5441600-5459600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:5441600-5465200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr5:5441600-5468800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:5441600-5469000	Strong transcription	Duodenum Mucosa	Duodenum

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