Variant report

Variant	rs12330768
Chromosome Location	chr3:43795726-43795727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43792142..43793707-chr3:43795661..43797194,2	K562	blood:
2	chr3:43793402..43795925-chr3:43797960..43799733,2	K562	blood:
3	chr3:43788680..43791474-chr3:43794569..43797297,2	K562	blood:
4	chr3:43792142..43794357-chr3:43795331..43797194,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72866873	0.82[AFR][1000 genomes]
rs9816915	0.89[YRI][hapmap]
rs9858368	0.92[YRI][hapmap]
rs9880467	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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv876733	chr3:43768018-43854669	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr3:43790600-43796000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:43793800-43798800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:43793800-43800200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:43794200-43795800	Enhancers	Lung	lung
5	chr3:43794200-43796000	Enhancers	Fetal Intestine Small	intestine
6	chr3:43794200-43796000	Enhancers	Fetal Muscle Leg	muscle
7	chr3:43794200-43796600	Enhancers	Placenta	Placenta
8	chr3:43794200-43797200	Enhancers	Hela-S3	cervix
9	chr3:43794400-43796000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:43794400-43796600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:43794400-43796600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:43794400-43796600	Enhancers	HUVEC	blood vessel
13	chr3:43794400-43797400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:43794400-43800000	Weak transcription	Right Ventricle	heart
15	chr3:43794600-43796000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:43794800-43796000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr3:43794800-43796200	Enhancers	Fetal Intestine Large	intestine
18	chr3:43794800-43797000	Enhancers	NHEK	skin
19	chr3:43794800-43797200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr3:43794800-43798200	Enhancers	NHLF	lung
21	chr3:43795000-43795800	Enhancers	Adipose Nuclei	Adipose
22	chr3:43795000-43795800	Enhancers	Psoas Muscle	Psoas
23	chr3:43795000-43796200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:43795000-43796400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:43795000-43796600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:43795000-43796600	Enhancers	HSMMtube	muscle
27	chr3:43795000-43796600	Enhancers	NH-A	brain
28	chr3:43795000-43796600	Enhancers	Osteobl	bone
29	chr3:43795000-43796800	Enhancers	HMEC	breast
30	chr3:43795200-43796000	Enhancers	Fetal Heart	heart
31	chr3:43795400-43795800	Enhancers	Fetal Lung	lung
32	chr3:43795400-43796200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:43795600-43795800	Enhancers	Right Atrium	heart
34	chr3:43795600-43795800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr3:43795600-43796000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:43795600-43796000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr3:43795600-43796000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:43795600-43796000	Flanking Active TSS	HSMM	muscle
39	chr3:43795600-43796200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:43795600-43796200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:43795600-43797400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:43795600-43799600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr3:43795600-43800000	Weak transcription	A549	lung
44	chr3:43795600-43801200	Enhancers	Primary T cells fromperipheralblood	blood

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