Variant report

Variant	rs2369854
Chromosome Location	chr12:1627800-1627801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1626245..1629061-chr12:1642130..1644083,2	MCF-7	breast:
2	chr12:1626921..1630129-chr12:1639679..1644833,6	MCF-7	breast:
3	chr12:1627443..1629034-chr12:1702544..1704207,2	MCF-7	breast:
4	chr12:1626153..1629399-chr12:1683454..1686746,3	MCF-7	breast:
5	chr12:1226666..1228780-chr12:1626005..1628648,2	MCF-7	breast:
6	chr12:1626725..1629627-chr12:1683737..1685681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111186	Chromatin interaction
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11832353	1.00[ASN][1000 genomes]
rs11832355	1.00[ASN][1000 genomes]
rs2369852	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369853	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489294	1.00[ASN][1000 genomes]
rs73043023	1.00[ASN][1000 genomes]
rs73044921	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960982	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1049247	chr12:1566534-1671806	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv556950	chr12:1603428-1638868	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	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
13	nsv1039629	chr12:1608565-1681391	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv541349	chr12:1608565-1681391	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv898585	chr12:1611846-1674239	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	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
17	esv1808027	chr12:1618365-1645257	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv1824458	chr12:1618365-1645257	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv1826568	chr12:1618365-1645257	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv1836167	chr12:1618365-1645257	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	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
22	esv1817413	chr12:1625937-1640595	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1626000-1628000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:1626000-1629400	Enhancers	NHDF-Ad	bronchial
3	chr12:1626200-1627800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:1626400-1628000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:1626400-1629000	Flanking Active TSS	HMEC	breast
6	chr12:1626400-1629400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:1626400-1629400	Enhancers	NHLF	lung
8	chr12:1626600-1627800	Weak transcription	Ovary	ovary
9	chr12:1626600-1629000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:1626800-1628000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:1626800-1628400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:1627000-1628200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:1627200-1627800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:1627200-1627800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:1627200-1628400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:1627200-1629200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:1627200-1629200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:1627400-1627800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr12:1627400-1627800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:1627400-1628000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:1627400-1628000	Enhancers	A549	lung
22	chr12:1627400-1628400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:1627400-1628400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:1627400-1628400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:1627400-1628400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:1627400-1628400	Enhancers	K562	blood
27	chr12:1627400-1629000	Flanking Active TSS	NHEK	skin
28	chr12:1627400-1629200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:1627400-1629200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr12:1627400-1629200	Enhancers	NH-A	brain
31	chr12:1627400-1629600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:1627600-1627800	Enhancers	HSMM	muscle
33	chr12:1627600-1628000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:1627600-1628600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr12:1627600-1628600	Flanking Active TSS	HepG2	liver
36	chr12:1627600-1629200	Flanking Active TSS	Osteobl	bone
37	chr12:1627800-1628000	Enhancers	Colonic Mucosa	Colon
38	chr12:1627800-1628200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr12:1627800-1628200	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr12:1627800-1628400	Bivalent Enhancer	Placenta	Placenta
41	chr12:1627800-1628400	Flanking Active TSS	HSMM	muscle
42	chr12:1627800-1628600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:1627800-1628600	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr12:1627800-1628600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr12:1627800-1628800	Enhancers	Fetal Lung	lung
46	chr12:1627800-1629000	Enhancers	Ovary	ovary
47	chr12:1627800-1629000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr12:1627800-1629200	Enhancers	Esophagus	oesophagus
49	chr12:1627800-1629200	Enhancers	Lung	lung

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