Variant report

Variant	rs589063
Chromosome Location	chr11:75297804-75297805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75294037..75296598-chr11:75297772..75301531,5	MCF-7	breast:
2	chr11:75258598..75261334-chr11:75297615..75299560,2	K562	blood:
3	chr11:75213071..75214995-chr11:75295605..75297967,2	K562	blood:
4	chr11:75287153..75290059-chr11:75296076..75298059,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255326	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1228367	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793395	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2015782	0.86[JPT][hapmap]
rs544997	0.87[JPT][hapmap]
rs584046	0.82[JPT][hapmap]
rs585433	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs588955	0.87[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs599816	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs601142	0.86[JPT][hapmap]
rs601293	0.82[JPT][hapmap]
rs609131	0.85[JPT][hapmap]
rs611221	0.86[JPT][hapmap]
rs617449	0.92[JPT][hapmap]
rs636418	0.84[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs645766	0.81[ASN][1000 genomes]
rs648930	0.86[JPT][hapmap]
rs650766	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs664133	0.82[JPT][hapmap]
rs694844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	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
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs589063	SLCO2B1	cis	cerebellum	SCAN
rs589063	GAB2	cis	parietal	SCAN
rs589063	PGM2L1	cis	parietal	SCAN
rs589063	SERPINH1	cis	multi-tissue	Pritchard
rs589063	NUMA1	cis	parietal	SCAN
rs589063	CTD-2530H12.4	cis	Artery Tibial	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75294600-75303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:75295200-75298000	Weak transcription	Gastric	stomach
3	chr11:75295200-75299000	Weak transcription	Liver	Liver
4	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
5	chr11:75295600-75298000	Enhancers	Fetal Muscle Leg	muscle
6	chr11:75295600-75298200	Weak transcription	Right Ventricle	heart
7	chr11:75295600-75298400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:75295600-75298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:75295600-75298600	Weak transcription	Pancreas	Pancrea
10	chr11:75295600-75299000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:75295600-75300400	Weak transcription	HSMMtube	muscle
12	chr11:75295600-75303800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:75295600-75304000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:75295600-75310800	Weak transcription	Right Atrium	heart
15	chr11:75295600-75314200	Weak transcription	Lung	lung
16	chr11:75295800-75298600	Weak transcription	Fetal Intestine Large	intestine
17	chr11:75295800-75316400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:75296000-75298800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:75296000-75304000	Weak transcription	Brain Substantia Nigra	brain
20	chr11:75296200-75301200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:75296200-75304200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:75296600-75302000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:75296600-75302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:75296600-75305800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:75296600-75321000	Weak transcription	Ovary	ovary
26	chr11:75296800-75298000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:75296800-75300800	Weak transcription	Fetal Lung	lung
28	chr11:75296800-75301000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:75296800-75303400	Weak transcription	HUVEC	blood vessel
30	chr11:75297000-75298200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:75297000-75298600	Weak transcription	K562	blood
32	chr11:75297000-75299600	Weak transcription	Fetal Heart	heart
33	chr11:75297000-75305200	Weak transcription	Spleen	Spleen
34	chr11:75297400-75298000	Enhancers	Fetal Muscle Trunk	muscle
35	chr11:75297600-75299800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:75297800-75298800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr11:75297800-75299000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:75297800-75299000	Strong transcription	Fetal Brain Female	brain
39	chr11:75297800-75299600	Strong transcription	Brain Germinal Matrix	brain
40	chr11:75297800-75300400	Strong transcription	Fetal Stomach	stomach
41	chr11:75297800-75303600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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