Variant report

Variant	rs539771546
Chromosome Location	chr12:22047416-22047417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22041351..22043151-chr12:22046321..22048748,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv898900	chr12:22044843-22083212	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv898901	chr12:22047174-22075960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv898902	chr12:22047174-22083212	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2142868	chr12:22047285-22047739	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3494889	chr12:22047366-22047729	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3400397	chr12:22047369-22047678	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3326802	chr12:22047378-22047724	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3494888	chr12:22047389-22047622	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3495707	chr12:22047394-22047669	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3410665	chr12:22047415-22047625	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
4	chr12:22044400-22048400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:22044800-22049400	Enhancers	Colon Smooth Muscle	Colon
6	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
7	chr12:22045200-22047800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:22045200-22053800	Weak transcription	Right Ventricle	heart
9	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:22045600-22047800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:22045600-22047800	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:22045600-22049200	Weak transcription	Fetal Stomach	stomach
14	chr12:22045600-22053000	Weak transcription	Aorta	Aorta
15	chr12:22045600-22059200	Weak transcription	NHLF	lung
16	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart
17	chr12:22046000-22059000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:22046600-22047600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:22046600-22047600	Weak transcription	Adipose Nuclei	Adipose
20	chr12:22047000-22047800	Flanking Active TSS	Liver	Liver
21	chr12:22047000-22048000	Enhancers	Psoas Muscle	Psoas
22	chr12:22047200-22047600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:22047200-22058000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:22047200-22058400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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