Variant report

Variant	rs584830
Chromosome Location	chr12:50283832-50283833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50275514..50280639-chr12:50281373..50284133,6	MCF-7	breast:
2	chr12:50281662..50285882-chr12:50286690..50289422,5	MCF-7	breast:
3	chr12:50280144..50282226-chr12:50283386..50285640,2	K562	blood:
4	chr12:50283500..50287015-chr12:50298892..50302094,3	MCF-7	breast:
5	chr12:50283616..50286348-chr12:50323415..50325001,2	MCF-7	breast:
6	chr12:50277027..50279310-chr12:50281448..50284241,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs297919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297921	1.00[AFR][1000 genomes]
rs297925	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297926	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs297927	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297928	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs297929	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs297930	0.88[AFR][1000 genomes]
rs585255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs695061	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:28 , 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	chr12:50279000-50285000	Strong transcription	Brain Germinal Matrix	brain
7	chr12:50279000-50286000	Strong transcription	Brain Anterior Caudate	brain
8	chr12:50279200-50288000	Strong transcription	Brain Cingulate Gyrus	brain
9	chr12:50279400-50286600	Strong transcription	Brain Angular Gyrus	brain
10	chr12:50279600-50285400	Strong transcription	Fetal Brain Female	brain
11	chr12:50280800-50284000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:50281200-50285200	Strong transcription	Fetal Stomach	stomach
13	chr12:50281200-50288000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:50281400-50286200	Enhancers	Stomach Mucosa	stomach
15	chr12:50282000-50285200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:50282400-50287800	Weak transcription	A549	lung
17	chr12:50282600-50288200	Strong transcription	Brain Substantia Nigra	brain
18	chr12:50282800-50287200	Weak transcription	Hela-S3	cervix
19	chr12:50283000-50288000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:50283200-50284400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:50283400-50284400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:50283400-50284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:50283400-50285000	Enhancers	Gastric	stomach
24	chr12:50283400-50287800	Weak transcription	Esophagus	oesophagus
25	chr12:50283400-50288000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:50283600-50286000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:50283600-50290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:50283800-50284000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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