Variant report

Variant	rs551391452
Chromosome Location	chr13:49739549-49739550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49738507..49740067-chr13:49743815..49746234,2	K562	blood:

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1052168	chr13:49691378-49743696	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3376372	chr13:49739001-49741499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49706000-49748200	Weak transcription	K562	blood
3	chr13:49720600-49742200	Weak transcription	Hela-S3	cervix
4	chr13:49721800-49751400	Weak transcription	NH-A	brain
5	chr13:49722800-49752800	Weak transcription	Psoas Muscle	Psoas
6	chr13:49724400-49742200	Weak transcription	HUVEC	blood vessel
7	chr13:49724400-49765000	Weak transcription	A549	lung
8	chr13:49735200-49739800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:49735400-49740000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr13:49735400-49740400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:49735600-49739800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr13:49736400-49739600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:49736400-49739800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:49736400-49739800	ZNF genes & repeats	Fetal Brain Female	brain
15	chr13:49736400-49740200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:49736400-49740800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:49736400-49760000	Weak transcription	NHLF	lung
18	chr13:49736600-49739800	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr13:49737000-49740800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:49737200-49739600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:49737200-49739600	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr13:49737200-49739800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr13:49737200-49740200	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr13:49737400-49739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr13:49737400-49739600	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr13:49737400-49740000	Strong transcription	Rectal Smooth Muscle	rectum
27	chr13:49737600-49739800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr13:49737600-49739800	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr13:49737600-49739800	ZNF genes & repeats	Fetal Kidney	kidney
30	chr13:49737600-49744400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr13:49737600-49747000	Strong transcription	HepG2	liver
32	chr13:49737800-49739600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:49737800-49739600	Weak transcription	Right Ventricle	heart
34	chr13:49737800-49739800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:49737800-49739800	Weak transcription	Gastric	stomach
36	chr13:49737800-49739800	Weak transcription	Spleen	Spleen
37	chr13:49737800-49741000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr13:49738000-49739600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr13:49738000-49740000	Weak transcription	Esophagus	oesophagus
41	chr13:49738000-49740000	Weak transcription	Pancreas	Pancrea
42	chr13:49738000-49740600	Strong transcription	Left Ventricle	heart
43	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
44	chr13:49738200-49739600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr13:49738200-49746000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:49738400-49740000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr13:49738400-49740200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr13:49738400-49740400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr13:49738400-49741000	Strong transcription	HSMMtube	muscle
50	chr13:49738400-49742600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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