Variant report

Variant	rs548180508
Chromosome Location	chr12:67057036-67057037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67053423..67055434-chr12:67055731..67058319,2	K562	blood:
2	chr12:67054441..67056343-chr12:67057026..67059042,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv915982	chr12:67050863-67189954	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1047085	chr12:67052384-67199621	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1040203	chr12:67056831-67189837	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv541520	chr12:67056831-67189837	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67053000-67062200	Weak transcription	Right Atrium	heart
2	chr12:67054600-67059600	Enhancers	Primary B cells from cord blood	blood
3	chr12:67054800-67057800	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:67055000-67057200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:67055200-67058200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:67055600-67057800	Enhancers	HMEC	breast
7	chr12:67055800-67058200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:67056000-67057400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:67056000-67057400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:67056000-67057400	Enhancers	HUVEC	blood vessel
11	chr12:67056000-67061600	Weak transcription	HSMMtube	muscle
12	chr12:67056400-67057200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:67056400-67057400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr12:67056400-67057600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:67056400-67057600	Enhancers	Fetal Heart	heart
16	chr12:67056400-67059400	Enhancers	Brain Germinal Matrix	brain
17	chr12:67056800-67058600	Enhancers	NHEK	skin
18	chr12:67056800-67058800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:67056800-67061400	Weak transcription	NH-A	brain
20	chr12:67057000-67057400	Weak transcription	Fetal Brain Male	brain
21	chr12:67057000-67058000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:67057000-67061800	Weak transcription	HSMM	muscle

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