Variant report

Variant	rs10843840
Chromosome Location	chr12:30946687-30946688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10843839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843841	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11051078	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11051079	0.85[AMR][1000 genomes]
rs11051082	1.00[AMR][1000 genomes]
rs11051085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv34091	chr12:30927650-31061815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30943800-30947600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:30943800-30947800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:30944000-30948200	Weak transcription	Left Ventricle	heart
4	chr12:30944400-30947600	Enhancers	HMEC	breast
5	chr12:30944400-30947600	Weak transcription	K562	blood
6	chr12:30944600-30947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:30944800-30947000	Enhancers	Osteobl	bone
8	chr12:30945000-30947600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:30945000-30947600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:30945000-30947600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:30945000-30947600	Enhancers	HUVEC	blood vessel
12	chr12:30945000-30947800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:30945000-30948400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:30945200-30947800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:30945200-30948000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:30945200-30948400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:30945200-30948400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:30945400-30947600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:30945400-30947800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:30945400-30948200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:30945600-30946800	Enhancers	HepG2	liver
22	chr12:30945600-30948200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:30945600-30948400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:30945800-30948400	Weak transcription	Esophagus	oesophagus
25	chr12:30945800-30948400	Weak transcription	Psoas Muscle	Psoas
26	chr12:30946000-30948000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:30946000-30948200	Weak transcription	Right Atrium	heart
28	chr12:30946000-30948400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:30946200-30947600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:30946200-30947600	Weak transcription	Stomach Mucosa	stomach
31	chr12:30946200-30947600	Enhancers	NHEK	skin
32	chr12:30946200-30948200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:30946200-30948400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:30946400-30947400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:30946400-30947600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:30946400-30947600	Enhancers	A549	lung
37	chr12:30946400-30947800	Weak transcription	HSMMtube	muscle
38	chr12:30946400-30948600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:30946600-30947000	Enhancers	Hela-S3	cervix
40	chr12:30946600-30947400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:30946600-30947600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:30946600-30947600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:30946600-30947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:30946600-30947600	Weak transcription	HSMM	muscle
45	chr12:30946600-30947600	Enhancers	NH-A	brain
46	chr12:30946600-30947800	Weak transcription	NHDF-Ad	bronchial
47	chr12:30946600-30948000	Weak transcription	NHLF	lung
48	chr12:30946600-30948200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:30946600-30948400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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