Variant report

Variant	rs73378905
Chromosome Location	chr12:76216835-76216836
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	chr12:76215518..76217462-chr12:76234728..76237383,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17115572	1.00[AMR][1000 genomes]
rs17115579	1.00[AMR][1000 genomes]
rs58840103	1.00[AMR][1000 genomes]
rs73376993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73377001	1.00[AMR][1000 genomes]
rs73378919	1.00[AMR][1000 genomes]
rs74109660	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76208800-76221200	Enhancers	NHLF	lung
2	chr12:76211800-76217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:76213400-76218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:76213400-76218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:76213400-76218600	Weak transcription	Esophagus	oesophagus
6	chr12:76213600-76217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:76213600-76217600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:76213600-76219200	Weak transcription	Fetal Kidney	kidney
9	chr12:76215000-76218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:76215000-76219000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:76215000-76219800	Weak transcription	Aorta	Aorta
12	chr12:76215000-76220600	Enhancers	NHDF-Ad	bronchial
13	chr12:76215000-76223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:76215200-76217200	Enhancers	Fetal Stomach	stomach
15	chr12:76215200-76217400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:76215200-76219000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:76215400-76217200	Weak transcription	NH-A	brain
18	chr12:76215400-76217200	Weak transcription	Osteobl	bone
19	chr12:76215400-76217400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:76215400-76218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:76215600-76217400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:76216000-76221200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:76216200-76217400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:76216400-76218000	Enhancers	NHEK	skin
25	chr12:76216400-76219400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:76216600-76217800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:76216600-76218400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:76216600-76218600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:76216600-76218600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:76216600-76223800	Weak transcription	Fetal Lung	lung
31	chr12:76216800-76218800	Enhancers	HMEC	breast

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