Variant report

Variant	rs1843322
Chromosome Location	chr12:30354123-30354124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11050695	0.88[AMR][1000 genomes]
rs11050696	0.88[AMR][1000 genomes]
rs1485439	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1843323	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1044929	chr12:30318488-30409475	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1039081	chr12:30320388-30410076	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1050921	chr12:30334940-30409475	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30353400-30354200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
2	chr12:30353400-30354800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:30353600-30354200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:30353600-30354600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:30353600-30354600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:30353600-30354600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:30353600-30354600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:30353600-30354600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr12:30353600-30354600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:30353600-30354800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr12:30353600-30354800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:30353600-30354800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:30353800-30354200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:30353800-30354200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:30353800-30354200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr12:30353800-30354200	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr12:30353800-30354200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
18	chr12:30353800-30354200	Enhancers	Stomach Mucosa	stomach
19	chr12:30353800-30354200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr12:30353800-30354200	Bivalent/Poised TSS	Thymus	Thymus
21	chr12:30353800-30354200	Bivalent Enhancer	HMEC	breast
22	chr12:30353800-30354200	Bivalent/Poised TSS	HUVEC	blood vessel
23	chr12:30353800-30354400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:30353800-30354400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
25	chr12:30353800-30354400	Active TSS	Brain Anterior Caudate	brain
26	chr12:30353800-30354400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:30353800-30354400	Bivalent Enhancer	Fetal Lung	lung
28	chr12:30353800-30354400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr12:30353800-30354400	Active TSS	Ovary	ovary
30	chr12:30353800-30354400	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr12:30353800-30354400	Flanking Active TSS	Right Atrium	heart
32	chr12:30353800-30354600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:30353800-30354600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:30353800-30354600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:30353800-30354600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:30353800-30354600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr12:30353800-30354600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr12:30353800-30354600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr12:30353800-30354600	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr12:30353800-30354600	Flanking Active TSS	Pancreas	Pancrea
41	chr12:30353800-30354600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr12:30353800-30354600	Bivalent/Poised TSS	HSMM	muscle
43	chr12:30353800-30354600	Bivalent/Poised TSS	NH-A	brain
44	chr12:30353800-30354800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr12:30353800-30354800	Active TSS	Right Ventricle	heart
46	chr12:30353800-30355000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr12:30354000-30354200	Flanking Active TSS	Esophagus	oesophagus
48	chr12:30354000-30354200	Bivalent Enhancer	HSMMtube	muscle
49	chr12:30354000-30354400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:30354000-30354400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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