Variant report

Variant	rs11829753
Chromosome Location	chr12:1601179-1601180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1588629..1590747-chr12:1599822..1601479,2	K562	blood:
2	chr12:1592609..1594282-chr12:1599555..1601526,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58023561	0.92[EUR][1000 genomes]
rs58064734	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60912810	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
10	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
11	nsv573	chr12:1560167-1604539	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	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
13	nsv1049391	chr12:1589463-1622803	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
14	nsv1051478	chr12:1590503-1626412	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1583400-1602800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:1584800-1601400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:1584800-1604600	Weak transcription	Fetal Kidney	kidney
4	chr12:1585200-1605400	Weak transcription	Fetal Heart	heart
5	chr12:1587600-1603400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:1596800-1605000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:1597200-1603800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:1598000-1602000	Strong transcription	Aorta	Aorta
9	chr12:1598000-1605000	Strong transcription	Fetal Intestine Small	intestine
10	chr12:1598000-1605200	Weak transcription	Colonic Mucosa	Colon
11	chr12:1598200-1602200	Strong transcription	Fetal Brain Female	brain
12	chr12:1598200-1603400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:1598200-1603600	Strong transcription	Spleen	Spleen
14	chr12:1598200-1603800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:1598400-1602200	Strong transcription	Primary B cells from cord blood	blood
16	chr12:1598400-1602200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:1598400-1602400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:1598400-1603200	Strong transcription	Esophagus	oesophagus
19	chr12:1598400-1604200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:1598400-1604800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:1598400-1605000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:1598400-1610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:1598400-1610800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:1598600-1601200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:1598600-1601400	Strong transcription	Osteobl	bone
26	chr12:1598600-1601800	Strong transcription	NHEK	skin
27	chr12:1598600-1602000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:1598600-1602400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:1598600-1603400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:1598600-1604800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:1598600-1605000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:1598600-1605200	Strong transcription	Fetal Stomach	stomach
33	chr12:1598600-1605400	Weak transcription	NH-A	brain
34	chr12:1598600-1606600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:1598800-1601200	Strong transcription	Rectal Smooth Muscle	rectum
36	chr12:1598800-1601800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:1598800-1602000	Strong transcription	HSMM	muscle
38	chr12:1598800-1603600	Strong transcription	Left Ventricle	heart
39	chr12:1598800-1603600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:1598800-1604200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:1598800-1605200	Weak transcription	NHDF-Ad	bronchial
42	chr12:1598800-1608600	Weak transcription	A549	lung
43	chr12:1599000-1602000	Strong transcription	Brain Angular Gyrus	brain
44	chr12:1599000-1602200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:1599000-1602400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:1599000-1602400	Strong transcription	Adipose Nuclei	Adipose
47	chr12:1599000-1603400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:1599000-1604400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:1599000-1604600	Weak transcription	HMEC	breast
50	chr12:1599200-1601200	Strong transcription	Rectal Mucosa Donor 29	rectum

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