Variant report

Variant	rs530156458
Chromosome Location	chr12:1738200-1738201
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:1738190-1738413	SH-SY5Y	brain:	n/a	n/a
2	EP300	chr12:1737662-1740910	SK-N-SH	brain:	n/a	chr12:1740199-1740213 chr12:1739522-1739538 chr12:1739309-1739318
3	GATA2	chr12:1737972-1739853	SH-SY5Y	brain:	n/a	chr12:1738891-1738899 chr12:1738889-1738902
4	MXI1	chr12:1737590-1740000	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
WNT5B	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1715400-1738600	Weak transcription	Right Atrium	heart
2	chr12:1721800-1738600	Weak transcription	Fetal Brain Female	brain
3	chr12:1732200-1738400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:1732200-1738400	Weak transcription	Esophagus	oesophagus
5	chr12:1733000-1744000	Weak transcription	K562	blood
6	chr12:1734600-1738200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:1734600-1738200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:1734600-1738400	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:1734800-1738200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:1734800-1738200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:1734800-1738200	Weak transcription	HSMM	muscle
12	chr12:1734800-1738200	Weak transcription	NHLF	lung
13	chr12:1734800-1738400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:1734800-1738400	Weak transcription	Pancreas	Pancrea
15	chr12:1735000-1738200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:1735000-1738400	Weak transcription	NH-A	brain
17	chr12:1735200-1738400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:1735400-1738200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:1735400-1738200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:1735400-1738400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:1736600-1738600	Weak transcription	Ovary	ovary
22	chr12:1737200-1738200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:1737400-1738400	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr12:1737600-1738200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:1737600-1738600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:1737600-1738600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr12:1737600-1738800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:1737600-1740600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:1737800-1738200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr12:1737800-1738200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr12:1737800-1738200	Enhancers	Fetal Muscle Trunk	muscle
32	chr12:1737800-1738200	Weak transcription	Osteobl	bone
33	chr12:1737800-1738400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:1737800-1738400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:1737800-1738400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:1737800-1738400	Enhancers	Fetal Intestine Small	intestine
37	chr12:1737800-1738800	Enhancers	NHDF-Ad	bronchial
38	chr12:1737800-1739200	Enhancers	HSMMtube	muscle
39	chr12:1737800-1739800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:1737800-1740000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr12:1737800-1740400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr12:1737800-1740600	Enhancers	Spleen	Spleen
43	chr12:1737800-1740800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr12:1737800-1740800	Bivalent Enhancer	Fetal Lung	lung
45	chr12:1738000-1738200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr12:1738000-1738200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:1738000-1738200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:1738000-1738200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:1738000-1738200	Enhancers	Stomach Smooth Muscle	stomach
50	chr12:1738000-1738200	Bivalent Enhancer	HepG2	liver

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