Variant report

Variant	rs512500
Chromosome Location	chr11:75375179-75375180
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	chr11:75369616..75372196-chr11:75374658..75377795,3	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1234668	0.81[AMR][1000 genomes]
rs2508193	0.81[AMR][1000 genomes]
rs640927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs656007	0.90[MEX][hapmap];0.81[AMR][1000 genomes]
rs657639	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs512500	RAB6A	cis	cerebellum	SCAN
rs512500	RELT	cis	cerebellum	SCAN
rs512500	SLCO2B1	cis	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75364600-75378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:75367200-75376400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:75367400-75377800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:75367600-75376400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:75367600-75376600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:75367600-75378200	Weak transcription	Aorta	Aorta
7	chr11:75367800-75377800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:75373600-75375400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:75373600-75377400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:75374200-75376200	Enhancers	Fetal Brain Male	brain
11	chr11:75374200-75376400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:75374200-75376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:75374200-75377000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:75374400-75375400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr11:75374400-75375800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:75374400-75376200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr11:75374600-75375200	Enhancers	Brain Germinal Matrix	brain
18	chr11:75374600-75375400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr11:75374600-75375400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:75374600-75375400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:75374600-75375400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:75374800-75375200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:75374800-75375600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:75375000-75375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:75375000-75375400	Active TSS	Fetal Brain Female	brain
26	chr11:75375000-75375800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr11:75375000-75375800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr11:75375000-75376200	Weak transcription	Brain Anterior Caudate	brain

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