Variant report

Variant	rs12310192
Chromosome Location	chr12:1549279-1549280
allele	A/G
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	CEBPD	chr12:1548759-1549357	K562	blood:	n/a	n/a
2	ZNF384	chr12:1548909-1549307	K562	blood:	n/a	n/a
3	EP300	chr12:1548812-1549281	K562	blood:	n/a	chr12:1549068-1549082
4	IRF1	chr12:1548729-1549295	K562	blood:	n/a	chr12:1549025-1549039 chr12:1549027-1549040 chr12:1549027-1549041 chr12:1549027-1549038
5	CEBPD	chr12:1548727-1549347	K562	blood:	n/a	n/a
6	GATA1	chr12:1548615-1549357	PBDE	blood:	n/a	chr12:1549074-1549087 chr12:1549078-1549085 chr12:1549076-1549086 chr12:1549076-1549085
7	GATA1	chr12:1548683-1549400	K562	blood:	n/a	chr12:1549074-1549087 chr12:1549078-1549085 chr12:1549076-1549086 chr12:1549076-1549085
8	TEAD4	chr12:1548802-1549314	K562	blood:	n/a	n/a
9	MYC	chr12:1548808-1549280	K562	blood:	n/a	n/a

Variant related genes	Relation type
ERC1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12303124	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59671342	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7294606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised 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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1518600-1553400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:1527600-1554600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:1530800-1552600	Weak transcription	Aorta	Aorta
4	chr12:1530800-1554600	Weak transcription	Spleen	Spleen
5	chr12:1530800-1554600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:1530800-1583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:1531400-1552600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:1531400-1554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:1531400-1554800	Weak transcription	Primary B cells from cord blood	blood
10	chr12:1531400-1574200	Weak transcription	Thymus	Thymus
11	chr12:1532200-1555200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:1532400-1554400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:1532400-1581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:1532600-1554600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:1532600-1557200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:1537200-1552600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:1538200-1554800	Weak transcription	Adipose Nuclei	Adipose
18	chr12:1538200-1557200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:1539200-1554400	Weak transcription	Brain Anterior Caudate	brain
20	chr12:1539400-1552400	Weak transcription	HSMMtube	muscle
21	chr12:1540200-1552600	Weak transcription	HSMM	muscle
22	chr12:1541200-1553400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:1541600-1552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:1541800-1553800	Weak transcription	NHEK	skin
25	chr12:1544000-1549400	Enhancers	Fetal Heart	heart
26	chr12:1544000-1554400	Weak transcription	Placenta	Placenta
27	chr12:1544000-1554600	Weak transcription	Lung	lung
28	chr12:1544400-1549800	Weak transcription	HUVEC	blood vessel
29	chr12:1544600-1552600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:1544600-1552800	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:1544800-1552600	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:1544800-1582800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:1545000-1552400	Weak transcription	NH-A	brain
34	chr12:1545000-1552800	Weak transcription	Fetal Stomach	stomach
35	chr12:1545000-1554800	Weak transcription	Liver	Liver
36	chr12:1545000-1559600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:1545000-1583000	Weak transcription	HepG2	liver
38	chr12:1545200-1552400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:1545200-1552600	Weak transcription	Fetal Brain Female	brain
40	chr12:1545200-1557800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:1545400-1552400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:1545400-1553400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:1545400-1553800	Weak transcription	Fetal Intestine Small	intestine
44	chr12:1545400-1554400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:1545400-1554600	Weak transcription	Stomach Mucosa	stomach
46	chr12:1545400-1557800	Weak transcription	Pancreas	Pancrea
47	chr12:1545400-1566000	Weak transcription	Gastric	stomach
48	chr12:1545400-1570600	Weak transcription	Fetal Intestine Large	intestine
49	chr12:1545800-1552600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:1545800-1552600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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