Variant report

Variant	rs183413584
Chromosome Location	chr12:1700612-1700613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1684651..1686904-chr12:1699807..1702010,2	K562	blood:
2	chr12:1697332..1701381-chr12:1702277..1705597,9	MCF-7	breast:
3	chr12:1401709..1403749-chr12:1700206..1701760,2	K562	blood:
4	chr12:1699624..1701795-chr12:1708636..1710140,2	MCF-7	breast:
5	chr12:1700533..1702051-chr12:1702617..1704531,2	MCF-7	breast:
6	chr12:1693823..1696197-chr12:1697644..1701450,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171823	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv556979	chr12:1700134-1704325	Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1690400-1701000	Weak transcription	Gastric	stomach
2	chr12:1696600-1700800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:1697000-1700800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:1698400-1700800	Weak transcription	Spleen	Spleen
5	chr12:1698600-1700800	Enhancers	NHEK	skin
6	chr12:1698600-1701600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:1698800-1701000	Flanking Active TSS	Fetal Brain Female	brain
8	chr12:1698800-1701400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
9	chr12:1698800-1701800	Enhancers	Fetal Heart	heart
10	chr12:1699200-1701200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:1699200-1701200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:1699200-1701200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:1699200-1701600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:1699200-1701600	Enhancers	Pancreas	Pancrea
15	chr12:1699200-1702000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:1699200-1703200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:1699400-1700800	Enhancers	HepG2	liver
18	chr12:1699400-1701200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:1699400-1701200	Flanking Active TSS	GM12878-XiMat	blood
20	chr12:1699400-1701200	Flanking Active TSS	NH-A	brain
21	chr12:1699400-1701600	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:1699400-1703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr12:1699400-1703000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr12:1699400-1703000	Flanking Active TSS	Osteobl	bone
25	chr12:1699600-1700800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:1699600-1701000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:1699600-1701200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:1699600-1701200	Flanking Active TSS	NHDF-Ad	bronchial
29	chr12:1699600-1701600	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:1699600-1701800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:1699600-1702000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:1699600-1702000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:1699600-1702000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr12:1699600-1703200	Flanking Active TSS	HMEC	breast
35	chr12:1699800-1700800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:1699800-1700800	Active TSS	Right Ventricle	heart
37	chr12:1699800-1700800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:1699800-1701400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr12:1699800-1701600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:1699800-1701600	Enhancers	Placenta	Placenta
41	chr12:1699800-1701800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr12:1699800-1702000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:1699800-1703000	Transcr. at gene 5' and 3'	Dnd41	blood
44	chr12:1699800-1703200	Flanking Active TSS	HUVEC	blood vessel
45	chr12:1700000-1700800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:1700000-1700800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:1700000-1700800	Enhancers	Aorta	Aorta
48	chr12:1700000-1700800	Enhancers	Stomach Mucosa	stomach
49	chr12:1700000-1701000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr12:1700000-1701600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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