Variant report

Variant	rs12313110
Chromosome Location	chr12:47612531-47612532
allele	C/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	ZNF384	chr12:47612299-47612662	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47611815..47614000-chr12:47619333..47621050,2	K562	blood:
2	chr12:47611807..47614340-chr2:17996221..17998309,2	MCF-7	breast:

Variant related genes	Relation type
PCED1B	TF binding region
PCED1B-AS1	TF binding region
ENSG00000151379	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128894	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10161222	0.80[ASN][1000 genomes]
rs12307384	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393668	0.87[ASN][1000 genomes]
rs73295522	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47600000-47614600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:47600800-47614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:47600800-47616400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:47601400-47616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:47601600-47617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
8	chr12:47602000-47615200	Weak transcription	Fetal Intestine Small	intestine
9	chr12:47602200-47616600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:47602600-47616400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:47603200-47615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:47603200-47616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:47605200-47613000	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr12:47605200-47613000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr12:47605200-47613600	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr12:47606200-47613400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:47606600-47616800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:47606800-47612600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:47606800-47614000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr12:47606800-47614200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:47606800-47616600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:47608400-47616800	Weak transcription	Fetal Lung	lung
23	chr12:47609000-47616400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:47609400-47617000	Weak transcription	Pancreas	Pancrea
25	chr12:47610200-47613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:47610200-47614800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:47610200-47616800	Weak transcription	Brain Anterior Caudate	brain
28	chr12:47610400-47614600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:47610400-47615800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
30	chr12:47610400-47628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:47610600-47616800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:47610800-47614400	Weak transcription	NH-A	brain
33	chr12:47610800-47616800	Weak transcription	HSMMtube	muscle
34	chr12:47610800-47617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:47610800-47617000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:47611000-47617000	Weak transcription	Osteobl	bone
37	chr12:47611200-47612600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:47611200-47613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:47611200-47613000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:47611400-47613200	Enhancers	A549	lung
41	chr12:47611600-47616200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:47611800-47612600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:47611800-47612800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:47611800-47613200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr12:47611800-47613400	Enhancers	K562	blood
46	chr12:47611800-47618000	Enhancers	HMEC	breast
47	chr12:47612000-47614400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:47612000-47616600	Weak transcription	Right Ventricle	heart
49	chr12:47612200-47612600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:47612200-47612800	Active TSS	Primary T cells from cord blood	blood

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