Variant report

Variant	rs4883183
Chromosome Location	chr12:8981929-8981930
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8973982..8976690-chr12:8980439..8982318,2	MCF-7	breast:
2	chr12:8975039..8977300-chr12:8980346..8983118,2	MCF-7	breast:
3	chr12:8971104..8974945-chr12:8980810..8983222,3	MCF-7	breast:
4	chr12:8980443..8982182-chr12:8987390..8989439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166535	Chromatin interaction
ENSG00000256904	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10734734	0.85[EUR][1000 genomes]
rs10743504	0.85[EUR][1000 genomes]
rs11047510	0.82[EUR][1000 genomes]
rs12823255	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17729632	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs17729753	0.89[MEX][hapmap]
rs17802399	0.82[EUR][1000 genomes]
rs1894814	0.86[EUR][1000 genomes]
rs2377597	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377598	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4883181	0.94[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883182	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883184	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883185	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4883186	0.84[EUR][1000 genomes]
rs4883187	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6487390	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7304994	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7305259	0.81[EUR][1000 genomes]
rs7308811	0.89[MEX][hapmap]
rs7957179	0.81[EUR][1000 genomes]
rs7969068	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7970580	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7979289	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4883183	MANSC1	cis	parietal	SCAN
rs4883183	CD163L1	cis	parietal	SCAN
rs4883183	OLR1	cis	parietal	SCAN
rs4883183	ING4	cis	cerebellum	SCAN
rs4883183	PARVG	trans	lymphoblastoid	RTeQTL
rs4883183	RUNDC3A	trans	parietal	SCAN
rs4883183	GALNT8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8976800-8984000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:8976800-8985000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:8979000-8995400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:8979200-8983800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:8979200-8985400	Enhancers	Placenta	Placenta
6	chr12:8979600-8982600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:8979600-8983200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:8979800-8982600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:8979800-8982600	Enhancers	HMEC	breast
10	chr12:8979800-8982600	Enhancers	NHEK	skin
11	chr12:8979800-8983400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:8980200-8982600	Enhancers	K562	blood
13	chr12:8980400-8982000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:8980400-8982600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:8980600-8984200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:8980600-8985800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:8980800-8982000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:8980800-8984600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:8981000-8982000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:8981000-8982200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:8981000-8984600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:8981200-8983200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:8981600-8983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:8981600-8987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:8981800-8983200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:8981800-8986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:8981800-8987400	Weak transcription	Esophagus	oesophagus

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