Variant report

Variant	rs188662469
Chromosome Location	chr3:142764891-142764892
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	chr3:142760427..142762094-chr3:142762981..142765806,2	K562	blood:
2	chr3:142764453..142766415-chr3:142770589..142773461,2	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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv513081	chr3:142764339-142767045	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142728600-142769000	Weak transcription	Pancreas	Pancrea
2	chr3:142729200-142765000	Strong transcription	Dnd41	blood
3	chr3:142729200-142785200	Weak transcription	Aorta	Aorta
4	chr3:142729800-142765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:142730200-142765000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:142730200-142765000	Strong transcription	Fetal Thymus	thymus
7	chr3:142732800-142765000	Strong transcription	HSMM	muscle
8	chr3:142734400-142785200	Weak transcription	Esophagus	oesophagus
9	chr3:142740000-142769200	Weak transcription	Gastric	stomach
10	chr3:142749000-142784200	Weak transcription	Small Intestine	intestine
11	chr3:142749200-142765000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:142749200-142769000	Weak transcription	Right Ventricle	heart
13	chr3:142749200-142779000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:142754200-142769800	Weak transcription	Colonic Mucosa	Colon
15	chr3:142755800-142765000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr3:142755800-142765000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:142755800-142765000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:142756000-142774400	Weak transcription	Stomach Mucosa	stomach
19	chr3:142756200-142769200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:142759800-142765000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:142760000-142765000	Strong transcription	Hela-S3	cervix
22	chr3:142760600-142765000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:142760800-142765000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:142760800-142765000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:142760800-142765000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr3:142760800-142765600	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr3:142761000-142765000	Strong transcription	Placenta	Placenta
28	chr3:142761400-142765000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:142761400-142765000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:142761400-142765000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:142761400-142765000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr3:142761400-142765000	Strong transcription	NH-A	brain
33	chr3:142761600-142765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:142761600-142765000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:142761600-142765000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:142761800-142765000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:142761800-142765000	Strong transcription	Fetal Lung	lung
38	chr3:142761800-142776600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:142762000-142765000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:142762000-142765000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:142762000-142765000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:142762400-142766800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr3:142762400-142767000	Weak transcription	Fetal Brain Female	brain
44	chr3:142763000-142769400	Weak transcription	NHEK	skin
45	chr3:142763200-142765000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr3:142763400-142787000	Weak transcription	Spleen	Spleen
47	chr3:142763600-142765000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:142763600-142769200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:142763600-142770000	Weak transcription	NHLF	lung
50	chr3:142763800-142766800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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