Variant report

Variant	rs188706228
Chromosome Location	chr12:50286154-50286155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50285473..50288081-chr12:50312540..50314584,2	K562	blood:
2	chr12:50283500..50287015-chr12:50298892..50302094,3	MCF-7	breast:
3	chr12:50283616..50286348-chr12:50323415..50325001,2	MCF-7	breast:
4	chr12:50262446..50266372-chr12:50284381..50286469,3	MCF-7	breast:
5	chr12:50266064..50268660-chr12:50284486..50286265,2	K562	blood:
6	chr12:50285846..50288716-chr12:50291928..50294510,3	K562	blood:
7	chr12:50257354..50258880-chr12:50284102..50286835,2	K562	blood:
8	chr12:50285846..50287432-chr12:50291861..50294460,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135472	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
7	nsv525920	chr12:50285061-50304949	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
2	chr12:50275000-50294800	Weak transcription	Fetal Brain Male	brain
3	chr12:50277800-50288000	Strong transcription	Brain Hippocampus Middle	brain
4	chr12:50278800-50286200	Strong transcription	Brain Inferior Temporal Lobe	brain
5	chr12:50278800-50286200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:50279200-50288000	Strong transcription	Brain Cingulate Gyrus	brain
7	chr12:50279400-50286600	Strong transcription	Brain Angular Gyrus	brain
8	chr12:50281200-50288000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:50281400-50286200	Enhancers	Stomach Mucosa	stomach
10	chr12:50282400-50287800	Weak transcription	A549	lung
11	chr12:50282600-50288200	Strong transcription	Brain Substantia Nigra	brain
12	chr12:50282800-50287200	Weak transcription	Hela-S3	cervix
13	chr12:50283000-50288000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:50283400-50287800	Weak transcription	Esophagus	oesophagus
15	chr12:50283400-50288000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:50283600-50290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:50284000-50288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:50284400-50288400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:50285000-50287000	Weak transcription	Brain Germinal Matrix	brain
20	chr12:50285000-50287000	Enhancers	K562	blood
21	chr12:50285400-50289800	Weak transcription	Fetal Brain Female	brain
22	chr12:50285800-50286400	Active TSS	Spleen	Spleen
23	chr12:50285800-50286800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:50286000-50286400	Genic enhancers	Brain Anterior Caudate	brain
25	chr12:50286000-50287200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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