Variant report

Variant	rs10506547
Chromosome Location	chr12:67809234-67809235
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	chr12:67792419..67796741-chr12:67805533..67809432,4	MCF-7	breast:
2	chr12:67750752..67751463-chr12:67809007..67809916,2	MCF-7	breast:
3	chr12:67748977..67750721-chr12:67808924..67810115,20	MCF-7	breast:
4	chr12:67757385..67758174-chr12:67809023..67809874,3	MCF-7	breast:
5	chr12:67554880..67555774-chr12:67809025..67809838,2	MCF-7	breast:
6	chr12:67781872..67782796-chr12:67809160..67809822,3	MCF-7	breast:
7	chr12:67749335..67750320-chr12:67808991..67809898,13	MCF-7	breast:
8	chr12:67770479..67771511-chr12:67808551..67809878,6	MCF-7	breast:

No data

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1066387	0.84[JPT][hapmap]
rs10784625	0.84[JPT][hapmap]
rs10784626	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878609	0.88[ASN][1000 genomes]
rs11176678	0.84[JPT][hapmap]
rs1252406	0.84[JPT][hapmap]
rs1252414	0.84[JPT][hapmap]
rs1252423	0.84[JPT][hapmap]
rs1658780	0.84[JPT][hapmap]
rs1920436	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1985475	0.84[JPT][hapmap]
rs6581753	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs710622	0.84[JPT][hapmap]
rs710623	0.84[JPT][hapmap]
rs7297753	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310645	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7315612	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7316350	0.88[EUR][1000 genomes]
rs775307	0.84[JPT][hapmap]
rs775310	0.84[JPT][hapmap]
rs775628	0.84[JPT][hapmap]
rs775634	0.84[JPT][hapmap]
rs775650	0.84[JPT][hapmap]
rs775656	0.83[JPT][hapmap]
rs775657	0.84[JPT][hapmap]
rs775662	0.84[JPT][hapmap]
rs800166	0.84[JPT][hapmap]
rs800167	0.84[JPT][hapmap]
rs812325	0.84[JPT][hapmap]
rs812326	0.84[JPT][hapmap]
rs983630	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10506547	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67805400-67814000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:67805600-67813600	Weak transcription	Pancreas	Pancrea
3	chr12:67807200-67809400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:67807400-67809400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:67807400-67809400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:67807400-67809800	Enhancers	Fetal Heart	heart
7	chr12:67807400-67810000	Enhancers	HSMMtube	muscle
8	chr12:67807800-67809600	Enhancers	Small Intestine	intestine
9	chr12:67807800-67810000	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:67808000-67809600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:67808000-67809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:67808000-67810200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr12:67808000-67813400	Weak transcription	Placenta	Placenta
14	chr12:67808000-67815400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:67808400-67813200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:67808600-67813000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:67808600-67818600	Weak transcription	Fetal Intestine Large	intestine
18	chr12:67808800-67813200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:67809000-67809400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:67809000-67812800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:67809000-67813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:67809000-67813000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:67809000-67814200	Weak transcription	Fetal Kidney	kidney
24	chr12:67809200-67810400	Weak transcription	HSMM	muscle
25	chr12:67809200-67813200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:67809200-67813200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:67809200-67813200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:67809200-67813400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:67809200-67819800	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:67809200-67824000	Weak transcription	Psoas Muscle	Psoas

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