Variant report

Variant	rs74058785
Chromosome Location	chr12:1714916-1714917
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1714073..1716320-chr12:1769729..1772377,3	K562	blood:
2	chr12:1699689..1706116-chr12:1713524..1719359,13	MCF-7	breast:
3	chr12:1702465..1707367-chr12:1707740..1717720,20	K562	blood:
4	chr12:1713956..1716010-chr12:1769729..1772627,2	K562	blood:
5	chr12:1713815..1716830-chr12:1725934..1728212,3	K562	blood:
6	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:
7	chr12:1699199..1708657-chr12:1712989..1721243,16	MCF-7	breast:
8	chr12:1710106..1713185-chr12:1713839..1716585,4	K562	blood:
9	chr12:679647..681193-chr12:1713500..1715289,2	K562	blood:
10	chr12:1713456..1716341-chr12:1722548..1725972,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12312620	0.94[ASN][1000 genomes]
rs12317231	0.94[ASN][1000 genomes]
rs13353077	0.94[ASN][1000 genomes]
rs2286295	1.00[EUR][1000 genomes]
rs2302029	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56784338	1.00[ASN][1000 genomes]
rs57176596	1.00[ASN][1000 genomes]
rs57414514	1.00[ASN][1000 genomes]
rs61912253	0.84[ASN][1000 genomes]
rs7135216	0.94[ASN][1000 genomes]
rs7301393	0.94[ASN][1000 genomes]
rs73032603	0.84[ASN][1000 genomes]
rs73032610	0.84[ASN][1000 genomes]
rs73607812	0.94[ASN][1000 genomes]
rs73607816	0.94[ASN][1000 genomes]
rs74058777	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74058780	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv898586	chr12:1690140-1734365	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1834423	chr12:1703324-1727170	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	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
11	esv3372221	chr12:1712091-1716389	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1711800-1717200	Weak transcription	Dnd41	blood
2	chr12:1713800-1715000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr12:1713800-1715800	Flanking Active TSS	GM12878-XiMat	blood
4	chr12:1714200-1715200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:1714200-1715400	Flanking Active TSS	Colonic Mucosa	Colon
6	chr12:1714200-1715600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:1714200-1715600	Flanking Active TSS	HSMM	muscle
8	chr12:1714200-1715800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:1714200-1715800	Flanking Active TSS	Hela-S3	cervix
10	chr12:1714200-1715800	Flanking Active TSS	NHEK	skin
11	chr12:1714200-1715800	Flanking Active TSS	NHLF	lung
12	chr12:1714200-1715800	Flanking Active TSS	Osteobl	bone
13	chr12:1714400-1715000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:1714400-1715000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:1714400-1715000	Active TSS	A549	lung
16	chr12:1714400-1715200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr12:1714400-1715200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:1714400-1715200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:1714400-1715200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr12:1714400-1715200	Flanking Active TSS	Fetal Lung	lung
21	chr12:1714400-1715400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr12:1714400-1715400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr12:1714400-1715400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:1714400-1715400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:1714400-1715400	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr12:1714400-1715400	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr12:1714400-1715400	Flanking Active TSS	HepG2	liver
28	chr12:1714400-1715600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr12:1714400-1715600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:1714400-1715600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:1714400-1715600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:1714400-1715600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:1714400-1715600	Flanking Active TSS	Liver	Liver
34	chr12:1714400-1715600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:1714400-1715600	Flanking Active TSS	Fetal Brain Female	brain
36	chr12:1714400-1715600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:1714400-1715600	Flanking Active TSS	HMEC	breast
38	chr12:1714400-1715800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:1714400-1715800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:1714400-1715800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr12:1714400-1715800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr12:1714400-1715800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:1714400-1715800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr12:1714400-1715800	Flanking Active TSS	K562	blood
45	chr12:1714400-1715800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:1714600-1715000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:1714600-1715000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr12:1714600-1715000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:1714600-1715000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:1714600-1715000	Flanking Active TSS	Primary B cells from peripheral blood	blood

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