Variant report

Variant	rs148936071
Chromosome Location	chr12:57160925-57160926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57156599..57160175-chr12:57160650..57163497,3	K562	blood:
2	chr12:57159846..57162634-chr12:57228722..57230740,2	MCF-7	breast:
3	chr12:57115492..57120311-chr12:57159209..57164000,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196531	Chromatin interaction
ENSG00000025423	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv826382	chr12:57151464-57208607	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv3383626	chr12:57160685-57162633	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57152200-57161800	Weak transcription	Pancreas	Pancrea
2	chr12:57155800-57166000	Weak transcription	Right Atrium	heart
3	chr12:57156400-57179400	Weak transcription	Spleen	Spleen
4	chr12:57157600-57163600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:57157800-57171000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:57158400-57161800	Weak transcription	HepG2	liver
7	chr12:57158600-57179200	Weak transcription	HSMMtube	muscle
8	chr12:57159800-57161000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:57159800-57164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:57160000-57161000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:57160000-57161000	Enhancers	Primary B cells from cord blood	blood
12	chr12:57160000-57161000	Flanking Active TSS	GM12878-XiMat	blood
13	chr12:57160000-57162600	Weak transcription	Esophagus	oesophagus
14	chr12:57160200-57161000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:57160200-57161200	Flanking Active TSS	Liver	Liver
16	chr12:57160400-57163600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:57160400-57168400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:57160600-57161000	Active TSS	Rectal Smooth Muscle	rectum
19	chr12:57160600-57163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:57160600-57163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:57160600-57163600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:57160800-57161000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:57160800-57164000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:57160800-57179400	Weak transcription	Lung	lung

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