Variant report

Variant	rs73924912
Chromosome Location	chr2:39962381-39962382
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39961424..39963272-chr2:40004019..40005990,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13393686	1.00[ASN][1000 genomes]
rs17024242	1.00[AMR][1000 genomes]
rs2058621	0.85[AFR][1000 genomes]
rs2540230	1.00[AMR][1000 genomes]
rs2540231	1.00[AMR][1000 genomes]
rs2540232	1.00[AMR][1000 genomes]
rs2540237	1.00[AMR][1000 genomes]
rs2540240	1.00[AMR][1000 genomes]
rs2540246	1.00[AMR][1000 genomes]
rs2716680	1.00[AMR][1000 genomes]
rs2716689	1.00[AMR][1000 genomes]
rs2716695	1.00[AMR][1000 genomes]
rs2716696	1.00[AMR][1000 genomes]
rs2716708	1.00[AMR][1000 genomes]
rs2716710	1.00[AMR][1000 genomes]
rs2716723	1.00[AMR][1000 genomes]
rs2716725	1.00[AMR][1000 genomes]
rs2716728	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2716731	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57481251	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6708232	0.84[AFR][1000 genomes]
rs6716262	0.85[AFR][1000 genomes]
rs6746083	1.00[AMR][1000 genomes]
rs6749057	1.00[ASN][1000 genomes]
rs73924911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73924913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73924914	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924917	0.84[AFR][1000 genomes]
rs73924918	0.84[AFR][1000 genomes]
rs73924935	1.00[AMR][1000 genomes]
rs73924936	1.00[AMR][1000 genomes]
rs7559933	1.00[AMR][1000 genomes]
rs917968	1.00[AMR][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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39942000-39963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
3	chr2:39951000-39963600	Weak transcription	Pancreas	Pancrea
4	chr2:39951000-39964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:39951200-39964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:39951400-39963800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:39952000-39964800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:39952400-39962400	Weak transcription	Spleen	Spleen
9	chr2:39952600-39962600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:39952800-39962400	Weak transcription	Fetal Kidney	kidney
11	chr2:39952800-39962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:39953200-39962400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:39956000-39962800	Weak transcription	HUVEC	blood vessel
14	chr2:39956200-39966400	Weak transcription	Small Intestine	intestine
15	chr2:39956400-39962600	Weak transcription	Placenta	Placenta
16	chr2:39956600-39962800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:39956600-39963400	Weak transcription	Ovary	ovary
18	chr2:39956800-39964600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
20	chr2:39957600-39963200	Strong transcription	Fetal Lung	lung
21	chr2:39957600-39964200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:39957800-39962400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:39958400-39963800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:39958600-39962600	Weak transcription	Hela-S3	cervix
25	chr2:39958800-39962600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:39958800-39962600	Genic enhancers	Osteobl	bone
27	chr2:39958800-39964400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:39958800-39964600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:39959000-39971200	Strong transcription	Fetal Thymus	thymus
30	chr2:39959400-39966400	Strong transcription	Fetal Intestine Large	intestine
31	chr2:39959400-39967400	Strong transcription	A549	lung
32	chr2:39959400-39971000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:39959400-39974200	Strong transcription	Primary B cells from cord blood	blood
34	chr2:39959600-39963800	Weak transcription	Esophagus	oesophagus
35	chr2:39959600-39967200	Strong transcription	HepG2	liver
36	chr2:39959800-39967000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:39960000-39962600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:39960000-39962600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:39960000-39962800	Weak transcription	Right Ventricle	heart
40	chr2:39960000-39963200	Weak transcription	Brain Germinal Matrix	brain
41	chr2:39960000-39964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:39960000-39964800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:39960000-39969000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:39960000-39971000	Strong transcription	K562	blood
45	chr2:39960000-39971200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:39960000-39971400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:39960000-39971800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:39960200-39962400	Weak transcription	Left Ventricle	heart
49	chr2:39960200-39962600	Weak transcription	NHDF-Ad	bronchial
50	chr2:39960200-39963800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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