Variant report

Variant	rs2008369
Chromosome Location	chr3:43196638-43196639
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43194169..43198887-chr3:43199731..43204970,6	K562	blood:
2	chr3:43001783..43003382-chr3:43196276..43199083,2	MCF-7	breast:
3	chr3:43191751..43194018-chr3:43195988..43197912,3	K562	blood:
4	chr3:43191751..43194018-chr3:43196227..43197912,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1125065	0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs11925735	0.82[ASN][1000 genomes]
rs12495981	0.82[ASN][1000 genomes]
rs13327174	0.82[ASN][1000 genomes]
rs17405306	0.86[ASN][1000 genomes]
rs17470866	0.82[ASN][1000 genomes]
rs2372336	0.81[ASN][1000 genomes]
rs57507574	0.82[ASN][1000 genomes]
rs73084642	0.82[ASN][1000 genomes]
rs73084651	0.81[ASN][1000 genomes]
rs73084652	0.81[ASN][1000 genomes]
rs9848658	0.81[ASN][1000 genomes]
rs9848907	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv3784	chr3:43176397-43221254	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43193000-43198000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr3:43193400-43197400	Enhancers	Fetal Muscle Leg	muscle
3	chr3:43193600-43197400	Enhancers	Fetal Brain Male	brain
4	chr3:43193600-43197400	Enhancers	Fetal Stomach	stomach
5	chr3:43193800-43197800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:43194200-43198200	Weak transcription	Thymus	Thymus
7	chr3:43194400-43197400	Enhancers	Fetal Muscle Trunk	muscle
8	chr3:43195200-43196800	Enhancers	Ovary	ovary
9	chr3:43195200-43197800	Enhancers	Fetal Thymus	thymus
10	chr3:43195600-43196800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:43195600-43196800	Weak transcription	Esophagus	oesophagus
12	chr3:43195600-43197200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:43195600-43197200	Enhancers	Brain Germinal Matrix	brain
14	chr3:43195600-43203200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:43195600-43203400	Weak transcription	Brain Substantia Nigra	brain
16	chr3:43195600-43203800	Weak transcription	Brain Anterior Caudate	brain
17	chr3:43195800-43197000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:43195800-43197200	Weak transcription	Fetal Kidney	kidney
19	chr3:43195800-43203400	Weak transcription	Brain Angular Gyrus	brain
20	chr3:43195800-43204200	Weak transcription	Fetal Brain Female	brain
21	chr3:43196000-43197000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:43196200-43197200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:43196200-43197200	Enhancers	Lung	lung
24	chr3:43196200-43197200	Enhancers	Right Atrium	heart
25	chr3:43196200-43197400	Enhancers	Fetal Heart	heart
26	chr3:43196200-43198200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:43196200-43198600	Enhancers	Primary T cells from cord blood	blood
28	chr3:43196400-43196800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:43196400-43196800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:43196400-43197000	Weak transcription	NHLF	lung
31	chr3:43196400-43197200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:43196400-43197200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:43196400-43197200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:43196400-43197400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr3:43196400-43197600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr3:43196600-43196800	Enhancers	Primary hematopoietic stem cells	blood
37	chr3:43196600-43197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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