Variant report

Variant	rs59886446
Chromosome Location	chr2:172219153-172219154
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	chr2:172218525..172220285-chr2:172222152..172224139,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16859392	0.80[AFR][1000 genomes]
rs16859394	0.80[AFR][1000 genomes]
rs57396064	0.88[AFR][1000 genomes]
rs58033547	0.90[AFR][1000 genomes]
rs58796565	0.86[AFR][1000 genomes]
rs59745257	0.90[AFR][1000 genomes]
rs60100357	0.90[AFR][1000 genomes]
rs61021737	0.85[AFR][1000 genomes]
rs61731491	0.80[AFR][1000 genomes]
rs66525413	0.80[AFR][1000 genomes]
rs73021082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022904	0.90[AFR][1000 genomes]
rs73022907	0.90[AFR][1000 genomes]
rs73022921	0.90[AFR][1000 genomes]
rs73022930	0.90[AFR][1000 genomes]
rs73022949	0.80[AFR][1000 genomes]
rs7563499	0.90[AFR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1003130	chr2:172189196-172237268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:172181000-172221600	Weak transcription	K562	blood
3	chr2:172204800-172222400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:172205000-172221400	Weak transcription	NHEK	skin
5	chr2:172205000-172221600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:172205000-172221800	Weak transcription	Osteobl	bone
7	chr2:172205000-172222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:172205200-172221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:172205200-172224000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:172212400-172221600	Weak transcription	HMEC	breast
12	chr2:172212400-172222400	Weak transcription	Aorta	Aorta
13	chr2:172212400-172231400	Weak transcription	Esophagus	oesophagus
14	chr2:172214200-172226000	Weak transcription	Left Ventricle	heart
15	chr2:172214400-172222400	Weak transcription	A549	lung
16	chr2:172214800-172221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:172214800-172231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:172215000-172222400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:172215000-172223000	Weak transcription	Fetal Stomach	stomach
20	chr2:172215400-172231800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:172215800-172231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:172216000-172221400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:172216000-172222400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:172216400-172222800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:172216400-172231400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:172216800-172221600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:172216800-172222000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:172217000-172219200	Weak transcription	Dnd41	blood
29	chr2:172217000-172220400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:172217000-172221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:172217000-172224800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:172217200-172225000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:172217200-172231400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:172218800-172222400	Weak transcription	Primary B cells from cord blood	blood
35	chr2:172219000-172221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:172219000-172222200	Weak transcription	HepG2	liver
37	chr2:172219000-172222400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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