Variant report

Variant	rs530185294
Chromosome Location	chr13:49692364-49692365
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49687421..49689642-chr13:49691753..49693412,2	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	nsv1035	chr13:49656225-49700371	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49657200-49692400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:49685000-49693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:49685200-49692600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:49685400-49692400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:49685600-49692800	Weak transcription	Colonic Mucosa	Colon
6	chr13:49685600-49705400	Weak transcription	K562	blood
7	chr13:49686000-49692600	Weak transcription	Aorta	Aorta
8	chr13:49687600-49692400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:49687600-49692400	Weak transcription	Pancreas	Pancrea
10	chr13:49687600-49692400	Weak transcription	Spleen	Spleen
11	chr13:49687600-49693000	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:49687600-49705800	Weak transcription	Small Intestine	intestine
13	chr13:49687600-49706200	Weak transcription	Fetal Heart	heart
14	chr13:49687600-49724200	Weak transcription	Esophagus	oesophagus
15	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
16	chr13:49687800-49692400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:49688000-49692400	Weak transcription	Thymus	Thymus
18	chr13:49688000-49692600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:49688000-49705000	Weak transcription	Right Ventricle	heart
20	chr13:49688200-49702200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:49688800-49692600	Strong transcription	HUVEC	blood vessel
22	chr13:49688800-49693000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:49688800-49693600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr13:49688800-49694000	Strong transcription	Liver	Liver
25	chr13:49688800-49694000	Strong transcription	Placenta	Placenta
26	chr13:49689000-49692400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr13:49689000-49693000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr13:49689000-49693600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr13:49689000-49693600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:49689000-49694000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:49689000-49711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:49689200-49692400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr13:49689200-49693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:49689200-49693600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:49689200-49693600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr13:49689200-49693600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr13:49689200-49693600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr13:49689200-49693600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr13:49689200-49693600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr13:49689200-49693800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr13:49689200-49693800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr13:49689200-49693800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr13:49689400-49693000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr13:49689400-49693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:49689400-49693000	Strong transcription	Fetal Muscle Leg	muscle
46	chr13:49689400-49693400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:49689400-49693600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr13:49689400-49693600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:49689400-49693800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:49689400-49693800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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