Variant report

Variant	rs6489317
Chromosome Location	chr12:1757441-1757442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1757039..1760239-chr12:1798333..1801306,3	K562	blood:
2	chr12:1750618..1752879-chr12:1756177..1759095,2	K562	blood:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11061910	1.00[ASN][1000 genomes]
rs12816304	1.00[ASN][1000 genomes]
rs12818971	1.00[ASN][1000 genomes]
rs12822334	1.00[ASN][1000 genomes]
rs12827353	1.00[ASN][1000 genomes]
rs12827787	1.00[ASN][1000 genomes]
rs12828057	1.00[ASN][1000 genomes]
rs16928611	1.00[ASN][1000 genomes]
rs16928615	1.00[ASN][1000 genomes]
rs34162487	1.00[ASN][1000 genomes]
rs35158962	1.00[ASN][1000 genomes]
rs35177332	1.00[ASN][1000 genomes]
rs35245056	1.00[ASN][1000 genomes]
rs35316910	1.00[ASN][1000 genomes]
rs35391324	1.00[ASN][1000 genomes]
rs35444259	1.00[ASN][1000 genomes]
rs35538655	1.00[ASN][1000 genomes]
rs35710824	1.00[ASN][1000 genomes]
rs35910263	1.00[ASN][1000 genomes]
rs56089042	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56110457	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56832868	1.00[ASN][1000 genomes]
rs61914792	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914793	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914794	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67017750	1.00[ASN][1000 genomes]
rs71454830	1.00[ASN][1000 genomes]
rs71454831	1.00[ASN][1000 genomes]
rs7307418	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv468964	chr12:1749905-1769930	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv556995	chr12:1749905-1769930	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1743600-1759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:1744400-1759000	Weak transcription	Right Ventricle	heart
3	chr12:1744600-1758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:1746600-1758000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:1749200-1760200	Weak transcription	Gastric	stomach
6	chr12:1750000-1766800	Weak transcription	Pancreas	Pancrea
7	chr12:1752000-1769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:1753400-1765400	Weak transcription	Lung	lung
9	chr12:1753600-1758000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:1754200-1758200	Weak transcription	Left Ventricle	heart
11	chr12:1754200-1758800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:1754200-1758800	Weak transcription	Ovary	ovary
13	chr12:1754200-1762200	Weak transcription	Stomach Mucosa	stomach
14	chr12:1754200-1764400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:1754200-1764400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:1754200-1770600	Weak transcription	Colonic Mucosa	Colon
17	chr12:1754400-1757600	Strong transcription	Osteobl	bone
18	chr12:1754400-1759600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:1754400-1763800	Weak transcription	NHEK	skin
20	chr12:1754400-1764400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:1754400-1769000	Weak transcription	HMEC	breast
22	chr12:1754600-1757800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:1754600-1757800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:1754600-1757800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:1754600-1758000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:1754600-1759000	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:1754600-1759600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:1754600-1761400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:1754600-1768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:1754800-1758600	Strong transcription	NHDF-Ad	bronchial
31	chr12:1754800-1758800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:1754800-1759200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:1754800-1759800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:1755000-1757600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:1755000-1757800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:1755000-1758400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:1755000-1758600	Weak transcription	Brain Angular Gyrus	brain
38	chr12:1755000-1759000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:1755000-1759400	Weak transcription	Adipose Nuclei	Adipose
40	chr12:1755000-1759400	Weak transcription	Brain Substantia Nigra	brain
41	chr12:1755000-1760200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:1755200-1758200	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:1755200-1758600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:1755200-1759800	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:1755400-1759000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:1755400-1762200	Weak transcription	Spleen	Spleen
47	chr12:1755400-1769000	Weak transcription	Esophagus	oesophagus
48	chr12:1755600-1758200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:1755600-1758200	Strong transcription	HSMM	muscle
50	chr12:1755800-1758000	Strong transcription	HSMMtube	muscle

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