Variant report

Variant	rs577228432
Chromosome Location	chr12:57523474-57523475
allele	C/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	SIN3AK20	chr12:57523323-57523736	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr12:57520190-57524232	SK-N-SH	brain:	n/a	n/a
3	SIN3A	chr12:57522552-57523985	H1-hESC	embryonic stem cell:	n/a	chr12:57523382-57523396
4	REST	chr12:57521519-57523949	H1-neurons	neurons:	n/a	chr12:57523385-57523395 chr12:57522542-57522555 chr12:57523383-57523397 chr12:57523265-57523278
5	POLR2A	chr12:57520745-57524477	U87	brain:	n/a	n/a
6	TEAD4	chr12:57523351-57523771	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr12:57523459-57523615	HepG2	liver:	n/a	chr12:57523592-57523602
8	POLR2A	chr12:57523225-57524033	U87	brain:	n/a	n/a
9	POLR2A	chr12:57523379-57523893	ProgFib	skin:	n/a	n/a
10	MAZ	chr12:57520612-57524372	IMR90	lung:	n/a	chr12:57521653-57521663 chr12:57521582-57521591 chr12:57522731-57522740 chr12:57523592-57523602 chr12:57521685-57521695
11	POLR2A	chr12:57520710-57524585	U87	brain:	n/a	n/a
12	POLR2A	chr12:57523210-57524033	U87	brain:	n/a	n/a
13	POLR2A	chr12:57523239-57523649	H1-neurons	neurons:	n/a	n/a
14	TEAD4	chr12:57523345-57523796	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57520592..57523929-chr12:57539571..57544778,8	MCF-7	breast:
2	chr12:57522726..57524274-chr12:57824100..57825642,2	MCF-7	breast:
3	chr12:57513705..57517929-chr12:57519571..57523661,4	K562	blood:
4	chr12:57520290..57524994-chr12:57525334..57528665,7	K562	blood:
5	chr12:57479977..57484073-chr12:57519609..57523791,10	MCF-7	breast:
6	chr12:57520220..57523882-chr12:57558135..57563846,11	MCF-7	breast:
7	chr12:57520113..57524524-chr12:57557752..57564598,9	MCF-7	breast:
8	chr12:57398801..57400743-chr12:57521280..57524489,3	K562	blood:
9	chr12:57398801..57400719-chr12:57521892..57524489,2	K562	blood:
10	chr12:57523301..57525619-chr12:57540189..57542955,2	K562	blood:

Variant related genes	Relation type
STAT6	TF binding region
ENSG00000259125	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000263832	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000166860	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3361096	chr12:57521435-57523533	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3321746	chr12:57521935-57524033	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57520400-57524800	Active TSS	Rectal Smooth Muscle	rectum
2	chr12:57520600-57523600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:57520600-57523600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:57520800-57523600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:57520800-57523600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:57520800-57523800	Active TSS	Brain Hippocampus Middle	brain
7	chr12:57520800-57524000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:57520800-57524000	Active TSS	Fetal Kidney	kidney
9	chr12:57520800-57524800	Active TSS	Right Atrium	heart
10	chr12:57521000-57523600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:57521000-57523600	Active TSS	Pancreas	Pancrea
12	chr12:57521000-57523800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:57521000-57523800	Active TSS	Lung	lung
14	chr12:57521000-57525000	Active TSS	Psoas Muscle	Psoas
15	chr12:57521200-57523600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:57521200-57523600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:57521200-57523600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:57521200-57523600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:57521200-57523600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr12:57521200-57523600	Active TSS	Brain Anterior Caudate	brain
21	chr12:57521200-57523600	Active TSS	Colon Smooth Muscle	Colon
22	chr12:57521200-57523600	Active TSS	Fetal Intestine Small	intestine
23	chr12:57521200-57523600	Active TSS	Stomach Mucosa	stomach
24	chr12:57521200-57523800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:57521200-57523800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:57521200-57523800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:57521200-57523800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:57521200-57523800	Active TSS	Esophagus	oesophagus
29	chr12:57521200-57523800	Active TSS	Gastric	stomach
30	chr12:57521200-57523800	Active TSS	HepG2	liver
31	chr12:57521200-57523800	Active TSS	NH-A	brain
32	chr12:57521200-57524200	Active TSS	Ovary	ovary
33	chr12:57521200-57524200	Active TSS	NHLF	lung
34	chr12:57521200-57524400	Active TSS	Brain Angular Gyrus	brain
35	chr12:57521200-57524400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr12:57521200-57524400	Active TSS	Left Ventricle	heart
37	chr12:57521200-57524600	Active TSS	Brain Cingulate Gyrus	brain
38	chr12:57521200-57524600	Active TSS	Right Ventricle	heart
39	chr12:57521200-57525000	Active TSS	HSMMtube	muscle
40	chr12:57521400-57523600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:57521400-57523600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:57521400-57523600	Active TSS	Adipose Nuclei	Adipose
43	chr12:57521400-57523600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:57521400-57523600	Active TSS	Duodenum Mucosa	Duodenum
45	chr12:57521400-57523600	Active TSS	Fetal Lung	lung
46	chr12:57521400-57523600	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr12:57521400-57523800	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr12:57521400-57524000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:57521400-57524000	Active TSS	Small Intestine	intestine
50	chr12:57521400-57524400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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