Variant report

Variant	rs12306978
Chromosome Location	chr12:1531422-1531423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12300475	0.81[EUR][1000 genomes]
rs12309872	0.81[EUR][1000 genomes]
rs12318883	0.81[EUR][1000 genomes]
rs12319342	0.81[EUR][1000 genomes]
rs17800906	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888927	0.81[EUR][1000 genomes]
rs59624680	0.81[EUR][1000 genomes]
rs73597964	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73597965	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969825	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv898580	chr12:1024688-1569097	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv2762958	chr12:1049279-1554962	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1052559	chr12:1077964-1588543	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv1050361	chr12:1274052-1541558	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv556944	chr12:1308553-1569097	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
16	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	nsv1039946	chr12:1429190-1548852	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1044918	chr12:1432740-1584649	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
19	nsv541348	chr12:1432740-1584649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
20	nsv1046515	chr12:1440896-1588543	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
21	nsv1039488	chr12:1486636-1567275	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1501200-1544400	Weak transcription	Right Ventricle	heart
2	chr12:1508400-1538000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:1516400-1537600	Weak transcription	NHDF-Ad	bronchial
4	chr12:1518400-1534200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:1518600-1537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:1518600-1553400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:1523400-1534400	Weak transcription	Left Ventricle	heart
8	chr12:1523600-1541000	Weak transcription	Pancreas	Pancrea
9	chr12:1527600-1554600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:1528000-1532400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:1530000-1531600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:1530000-1538600	Weak transcription	NHLF	lung
13	chr12:1530200-1533800	ZNF genes & repeats	GM12878-XiMat	blood
14	chr12:1530600-1534400	Weak transcription	Fetal Kidney	kidney
15	chr12:1530800-1531600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:1530800-1531800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:1530800-1531800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:1530800-1531800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:1530800-1531800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:1530800-1533400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:1530800-1533600	Weak transcription	Fetal Lung	lung
22	chr12:1530800-1533600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:1530800-1534000	Weak transcription	Fetal Heart	heart
24	chr12:1530800-1534200	Weak transcription	Small Intestine	intestine
25	chr12:1530800-1534600	Weak transcription	HSMM	muscle
26	chr12:1530800-1536200	Weak transcription	Primary T cells from cord blood	blood
27	chr12:1530800-1536200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:1530800-1536800	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:1530800-1537200	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:1530800-1537400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:1530800-1537600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:1530800-1537600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:1530800-1537600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:1530800-1537600	Weak transcription	Brain Anterior Caudate	brain
35	chr12:1530800-1538000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:1530800-1538800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:1530800-1538800	Weak transcription	HMEC	breast
38	chr12:1530800-1539000	Weak transcription	HSMMtube	muscle
39	chr12:1530800-1539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:1530800-1541000	Weak transcription	NHEK	skin
41	chr12:1530800-1543600	Weak transcription	Ovary	ovary
42	chr12:1530800-1543800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:1530800-1544400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:1530800-1545600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:1530800-1552600	Weak transcription	Aorta	Aorta
46	chr12:1530800-1554600	Weak transcription	Spleen	Spleen
47	chr12:1530800-1554600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr12:1530800-1583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:1531000-1531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:1531000-1545400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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