Variant report

Variant	rs58235708
Chromosome Location	chr12:1500982-1500983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr12:1500953-1501260	U2OS	brain:	n/a	chr12:1501108-1501116
2	KAP1	chr12:1500670-1501402	HEK293	kidney:	n/a	chr12:1501108-1501116
3	ZNF143	chr12:1500892-1501258	H1-hESC	embryonic stem cell:	n/a	n/a
4	SETDB1	chr12:1500826-1501504	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000249028	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10128898	0.84[ASN][1000 genomes]
rs12099759	0.85[ASN][1000 genomes]
rs12298336	0.83[AMR][1000 genomes]
rs12302914	0.83[AMR][1000 genomes]
rs12306442	0.84[ASN][1000 genomes]
rs16928398	0.85[ASN][1000 genomes]
rs34875056	0.85[ASN][1000 genomes]
rs56706235	0.84[ASN][1000 genomes]
rs58591108	0.85[ASN][1000 genomes]
rs59010136	0.85[ASN][1000 genomes]
rs60507093	0.85[ASN][1000 genomes]
rs6489283	0.84[ASN][1000 genomes]
rs6489285	0.81[ASN][1000 genomes]
rs7132825	0.84[ASN][1000 genomes]
rs7301869	0.84[ASN][1000 genomes]
rs74057163	0.85[ASN][1000 genomes]
rs74057165	0.85[ASN][1000 genomes]
rs74057166	0.81[ASN][1000 genomes]
rs74057172	0.85[ASN][1000 genomes]
rs766095	0.83[AMR][1000 genomes]
rs7958646	0.84[ASN][1000 genomes]
rs7970589	0.84[ASN][1000 genomes]
rs7973379	0.83[AMR][1000 genomes]
rs7978591	0.81[ASN][1000 genomes]
rs9668403	0.85[ASN][1000 genomes]
rs9668404	0.85[ASN][1000 genomes]
rs9669360	0.85[ASN][1000 genomes]
rs9669370	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv898581	chr12:1084783-1527359	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv898583	chr12:1314430-1507616	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv470257	chr12:1314430-1514021	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv556949	chr12:1437726-1514021	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	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
26	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1478400-1520400	Weak transcription	Pancreas	Pancrea
2	chr12:1479000-1502400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:1481400-1520000	Weak transcription	Thymus	Thymus
4	chr12:1485600-1501400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:1486200-1518400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:1486800-1530400	Weak transcription	Fetal Lung	lung
7	chr12:1489800-1503800	Weak transcription	Fetal Brain Male	brain
8	chr12:1489800-1510800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:1489800-1517600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:1489800-1517800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:1492000-1512200	Weak transcription	Fetal Heart	heart
12	chr12:1492400-1531200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:1493200-1517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:1494400-1513800	Weak transcription	Liver	Liver
15	chr12:1496600-1509400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr12:1497800-1501800	ZNF genes & repeats	Brain Anterior Caudate	brain
17	chr12:1497800-1503000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr12:1498400-1529800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:1499600-1501200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr12:1499600-1501400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:1499600-1501600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr12:1499800-1501000	ZNF genes & repeats	Aorta	Aorta
23	chr12:1499800-1501000	ZNF genes & repeats	A549	lung
24	chr12:1499800-1501400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr12:1499800-1501400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:1499800-1501400	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr12:1499800-1501400	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr12:1499800-1501400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr12:1499800-1501600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:1499800-1501600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:1499800-1501600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr12:1499800-1501600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:1499800-1501600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:1499800-1501600	ZNF genes & repeats	Brain Angular Gyrus	brain
35	chr12:1499800-1501600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:1499800-1501600	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr12:1499800-1501800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:1499800-1501800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr12:1499800-1501800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:1500000-1501000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:1500000-1501000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr12:1500000-1501000	ZNF genes & repeats	Fetal Kidney	kidney
43	chr12:1500000-1501000	ZNF genes & repeats	Gastric	stomach
44	chr12:1500000-1501000	ZNF genes & repeats	Lung	lung
45	chr12:1500000-1501200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:1500000-1501200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:1500000-1501200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:1500000-1501200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr12:1500000-1501200	ZNF genes & repeats	Ovary	ovary
50	chr12:1500000-1501400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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