Variant report

Variant	rs4143175
Chromosome Location	chr12:67782397-67782398
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	chr12:67781872..67782796-chr12:67809160..67809822,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1066394	0.82[AMR][1000 genomes]
rs10784625	0.80[CEU][hapmap]
rs11176678	0.80[CEU][hapmap]
rs1143758	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs1252423	0.81[CEU][hapmap]
rs1658780	0.81[CEU][hapmap]
rs1920436	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1985475	0.81[CEU][hapmap]
rs2870938	0.90[ASN][1000 genomes]
rs6581753	0.92[ASN][1000 genomes]
rs7310645	0.92[ASN][1000 genomes]
rs7316350	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs775310	0.80[CEU][hapmap]
rs775634	0.90[CEU][hapmap]
rs775648	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs775650	0.81[CEU][hapmap]
rs775659	0.88[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs775662	0.80[CEU][hapmap]
rs7959649	0.95[ASN][1000 genomes]
rs800166	0.80[CEU][hapmap]
rs800167	0.81[CEU][hapmap]
rs812325	0.80[CEU][hapmap]
rs812326	0.80[CEU][hapmap]
rs983630	0.80[CEU][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
rs4143175	CAND1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67771600-67782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67780400-67782400	Weak transcription	HSMM	muscle
3	chr12:67781000-67782400	Weak transcription	Fetal Kidney	kidney
4	chr12:67781400-67783400	Enhancers	Fetal Thymus	thymus
5	chr12:67781400-67784400	Enhancers	Fetal Muscle Leg	muscle
6	chr12:67781600-67784200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:67781800-67783400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:67781800-67783400	Enhancers	Dnd41	blood
9	chr12:67781800-67784200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:67782000-67783200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:67782000-67783200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:67782200-67782600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:67782200-67782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:67782200-67782600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr12:67782200-67782800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:67782200-67782800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:67782200-67782800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:67782200-67782800	Enhancers	Fetal Intestine Large	intestine
19	chr12:67782200-67783000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:67782200-67783000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:67782200-67783000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:67782200-67783000	Enhancers	Fetal Intestine Small	intestine
23	chr12:67782200-67783000	Enhancers	Psoas Muscle	Psoas
24	chr12:67782200-67783000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr12:67782200-67783000	Enhancers	HSMMtube	muscle
26	chr12:67782200-67783200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:67782200-67783400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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