Variant report

Variant	rs62183774
Chromosome Location	chr2:172852201-172852202
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172844744..172846425-chr2:172851326..172853305,2	K562	blood:
2	chr2:172849902..172852989-chr2:172863264..172866294,5	K562	blood:
3	chr2:172822526..172824288-chr2:172851603..172854588,2	K562	blood:
4	chr2:172851801..172855729-chr2:172948851..172951806,4	K562	blood:

Variant related genes	Relation type
ENSG00000172878	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62182434	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62182441	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62183764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62183775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62183802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv821790	chr2:172848378-172854109	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
2	chr2:172796000-172855200	Weak transcription	Gastric	stomach
3	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
5	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
6	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:172824000-172857800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:172824000-172857800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:172840800-172857600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:172843400-172852800	Weak transcription	Aorta	Aorta
11	chr2:172844000-172854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:172844200-172857200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:172844400-172857400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:172844600-172855600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:172845200-172857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:172845600-172854200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:172845600-172854400	Weak transcription	Thymus	Thymus
18	chr2:172845600-172855600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:172846000-172857600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:172846200-172852800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:172847400-172864000	Weak transcription	HSMM	muscle
22	chr2:172847600-172854400	Weak transcription	Fetal Stomach	stomach
23	chr2:172847600-172855000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:172847800-172857600	Weak transcription	Ovary	ovary
25	chr2:172848000-172863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:172848200-172855600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:172848400-172852400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:172848400-172852800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:172848400-172853800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:172848400-172856000	Weak transcription	K562	blood
31	chr2:172848800-172855200	Weak transcription	Fetal Intestine Large	intestine
32	chr2:172849000-172853000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:172849000-172854000	Weak transcription	Liver	Liver
34	chr2:172849200-172854200	Weak transcription	Fetal Thymus	thymus
35	chr2:172849200-172855000	Weak transcription	Primary T cells from cord blood	blood
36	chr2:172849200-172856600	Weak transcription	Left Ventricle	heart
37	chr2:172849200-172857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:172849200-172857400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:172849400-172855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:172849600-172863800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:172850400-172860600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:172851000-172856800	Weak transcription	Dnd41	blood
43	chr2:172851200-172853400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:172851600-172857600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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