Variant report

Variant	rs74061311
Chromosome Location	chr12:1744672-1744673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1738742..1741489-chr12:1743344..1746284,2	K562	blood:
2	chr12:1702532..1704125-chr12:1743682..1745521,2	MCF-7	breast:
3	chr12:1738204..1740242-chr12:1742756..1744844,2	K562	blood:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11061904	1.00[EUR][1000 genomes]
rs1860049	1.00[EUR][1000 genomes]
rs2041059	1.00[EUR][1000 genomes]
rs2108398	1.00[EUR][1000 genomes]
rs2369974	1.00[EUR][1000 genomes]
rs2370054	1.00[EUR][1000 genomes]
rs35510932	1.00[EUR][1000 genomes]
rs4765838	1.00[EUR][1000 genomes]
rs4766411	1.00[EUR][1000 genomes]
rs4766420	1.00[EUR][1000 genomes]
rs56369812	1.00[EUR][1000 genomes]
rs6489321	1.00[EUR][1000 genomes]
rs6489325	1.00[EUR][1000 genomes]
rs7133749	1.00[EUR][1000 genomes]
rs7135229	1.00[EUR][1000 genomes]
rs7297878	1.00[EUR][1000 genomes]
rs7304843	1.00[EUR][1000 genomes]
rs7308757	1.00[EUR][1000 genomes]
rs7314133	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74061331	1.00[EUR][1000 genomes]
rs74061332	1.00[EUR][1000 genomes]
rs758026	1.00[EUR][1000 genomes]
rs758027	1.00[EUR][1000 genomes]
rs758169	1.00[EUR][1000 genomes]
rs7957003	1.00[EUR][1000 genomes]
rs7962777	1.00[EUR][1000 genomes]
rs7964434	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr12:1739800-1753800	Weak transcription	Esophagus	oesophagus
2	chr12:1740000-1748800	Weak transcription	Pancreas	Pancrea
3	chr12:1740000-1749000	Weak transcription	Ovary	ovary
4	chr12:1740200-1745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:1740600-1745600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:1740600-1748800	Weak transcription	Gastric	stomach
7	chr12:1740600-1753400	Strong transcription	Osteobl	bone
8	chr12:1740600-1755000	Weak transcription	Spleen	Spleen
9	chr12:1740800-1747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:1740800-1751000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:1740800-1753200	Weak transcription	NH-A	brain
12	chr12:1740800-1753600	Weak transcription	Placenta	Placenta
13	chr12:1740800-1757400	Weak transcription	GM12878-XiMat	blood
14	chr12:1741000-1749200	Weak transcription	HSMMtube	muscle
15	chr12:1741400-1745600	Enhancers	Liver	Liver
16	chr12:1741400-1752800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:1741600-1745200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:1741800-1745000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:1741800-1746000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:1742000-1753400	Weak transcription	NHEK	skin
21	chr12:1742200-1745000	Enhancers	Fetal Brain Female	brain
22	chr12:1742200-1745200	Enhancers	Brain Germinal Matrix	brain
23	chr12:1742200-1749400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:1742400-1747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:1742800-1747000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:1743000-1749400	Weak transcription	Fetal Lung	lung
27	chr12:1743600-1745000	Enhancers	Brain Anterior Caudate	brain
28	chr12:1743600-1759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:1743800-1744800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:1743800-1745000	Enhancers	Brain Hippocampus Middle	brain
31	chr12:1743800-1745000	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr12:1743800-1745600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:1743800-1745600	Strong transcription	NHDF-Ad	bronchial
34	chr12:1743800-1749400	Weak transcription	Stomach Mucosa	stomach
35	chr12:1744000-1745000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:1744000-1745200	Genic enhancers	NHLF	lung
37	chr12:1744000-1745400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:1744000-1749200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:1744000-1753000	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:1744000-1753200	Weak transcription	Colonic Mucosa	Colon
41	chr12:1744200-1745000	Enhancers	Primary B cells from cord blood	blood
42	chr12:1744200-1745000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr12:1744200-1746000	Strong transcription	HSMM	muscle
44	chr12:1744200-1749000	Weak transcription	Fetal Intestine Small	intestine
45	chr12:1744200-1751600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:1744200-1753400	Weak transcription	Adipose Nuclei	Adipose
47	chr12:1744400-1744800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:1744400-1744800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:1744400-1745000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:1744400-1745000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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