Variant report

Variant	rs575208022
Chromosome Location	chr12:1741033-1741034
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1740865..1743090-chr12:1799142..1801895,2	MCF-7	breast:
2	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
5	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
6	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
7	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
8	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
9	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
10	nsv556994	chr12:1737309-1743843	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	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
12	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1733000-1744000	Weak transcription	K562	blood
2	chr12:1739800-1741400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:1739800-1742000	Weak transcription	Right Atrium	heart
4	chr12:1739800-1753800	Weak transcription	Esophagus	oesophagus
5	chr12:1740000-1741200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr12:1740000-1741200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr12:1740000-1741400	Weak transcription	Liver	Liver
8	chr12:1740000-1744000	Weak transcription	Aorta	Aorta
9	chr12:1740000-1748800	Weak transcription	Pancreas	Pancrea
10	chr12:1740000-1749000	Weak transcription	Ovary	ovary
11	chr12:1740200-1741600	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr12:1740200-1745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:1740400-1741200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
14	chr12:1740400-1741400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:1740400-1741600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:1740400-1741800	Weak transcription	Left Ventricle	heart
17	chr12:1740400-1743000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:1740400-1743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:1740400-1744000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:1740400-1744200	Enhancers	Adipose Nuclei	Adipose
21	chr12:1740600-1741200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr12:1740600-1741200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:1740600-1741200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:1740600-1741600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:1740600-1741600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:1740600-1741600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:1740600-1741800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:1740600-1741800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:1740600-1741800	Weak transcription	Right Ventricle	heart
30	chr12:1740600-1743600	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:1740600-1745600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:1740600-1748800	Weak transcription	Gastric	stomach
33	chr12:1740600-1753400	Strong transcription	Osteobl	bone
34	chr12:1740600-1755000	Weak transcription	Spleen	Spleen
35	chr12:1740800-1741200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:1740800-1741200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr12:1740800-1741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:1740800-1741200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:1740800-1741200	Genic enhancers	HSMM	muscle
40	chr12:1740800-1741600	Weak transcription	Brain Substantia Nigra	brain
41	chr12:1740800-1741800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:1740800-1741800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:1740800-1741800	Enhancers	Fetal Brain Female	brain
44	chr12:1740800-1741800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:1740800-1742000	Enhancers	Brain Germinal Matrix	brain
46	chr12:1740800-1742000	Weak transcription	NHLF	lung
47	chr12:1740800-1742200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:1740800-1744400	Enhancers	Fetal Brain Male	brain
49	chr12:1740800-1747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:1740800-1751000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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