Variant report

Variant	rs58219425
Chromosome Location	chr2:73327937-73327938
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73320586..73325143-chr2:73325606..73330308,7	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10186042	1.00[AMR][1000 genomes]
rs10201147	1.00[AMR][1000 genomes]
rs13392698	1.00[AMR][1000 genomes]
rs13394310	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403043	1.00[AMR][1000 genomes]
rs13406318	1.00[AMR][1000 genomes]
rs13406847	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414995	1.00[AMR][1000 genomes]
rs13428265	1.00[AMR][1000 genomes]
rs59641381	1.00[AMR][1000 genomes]
rs9808477	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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73303000-73328600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:73315600-73330400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:73315600-73338000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:73316200-73330400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:73316200-73338400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:73316400-73329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:73316400-73329200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:73316400-73334400	Weak transcription	Fetal Brain Female	brain
9	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:73317600-73328600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:73318400-73328200	Weak transcription	NHLF	lung
12	chr2:73318400-73331800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:73318600-73334400	Weak transcription	HMEC	breast
14	chr2:73319400-73330000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:73320200-73328600	Weak transcription	NH-A	brain
16	chr2:73320200-73328800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:73320200-73329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:73320200-73332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:73320600-73328400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:73320600-73329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:73320600-73332800	Weak transcription	Esophagus	oesophagus
22	chr2:73320800-73328800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:73320800-73329600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:73320800-73332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:73320800-73334400	Weak transcription	Aorta	Aorta
26	chr2:73321000-73328800	Weak transcription	Lung	lung
27	chr2:73321000-73330200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:73321600-73328600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:73321600-73328800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:73321600-73332800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:73321800-73330000	Weak transcription	Right Atrium	heart
32	chr2:73321800-73330200	Weak transcription	Left Ventricle	heart
33	chr2:73322400-73330200	Weak transcription	Pancreas	Pancrea
34	chr2:73322400-73334600	Weak transcription	Psoas Muscle	Psoas
35	chr2:73322600-73328200	Weak transcription	Placenta	Placenta
36	chr2:73322600-73329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:73323000-73330400	Weak transcription	Brain Angular Gyrus	brain
38	chr2:73323200-73328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:73323200-73329400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:73323400-73329000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:73323600-73329200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:73324600-73330400	Weak transcription	Ovary	ovary
43	chr2:73325200-73328600	Weak transcription	HSMM	muscle
44	chr2:73325200-73328800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:73325200-73329000	Weak transcription	NHDF-Ad	bronchial
46	chr2:73325400-73328600	Weak transcription	Osteobl	bone
47	chr2:73325400-73328800	Weak transcription	Right Ventricle	heart
48	chr2:73326000-73329000	Weak transcription	HepG2	liver
49	chr2:73326600-73328800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:73326600-73329000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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