Variant report

Variant	rs4932593
Chromosome Location	chr15:92519398-92519399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:92515850..92520116-chr15:92521478..92524897,5	MCF-7	breast:
2	chr15:92518566..92519642-chr15:92620200..92621254,3	MCF-7	breast:
3	chr15:92509487..92513090-chr15:92516971..92519490,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10454699	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10852164	0.81[CEU][hapmap];0.83[CHD][hapmap]
rs10852165	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10852166	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11635055	0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs12439826	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12901238	0.94[ASN][1000 genomes]
rs12902685	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12903803	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12905744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12909480	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12910715	0.95[CHB][hapmap];0.90[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12910862	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12916491	0.94[ASN][1000 genomes]
rs1356417	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1400783	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1568210	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16946157	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16946164	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16946168	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2138849	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2176452	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28470895	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35973922	0.95[ASN][1000 genomes]
rs4312282	0.95[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs4932592	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs62009549	0.94[ASN][1000 genomes]
rs7165760	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7171131	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7171921	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7172099	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7172159	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7178673	0.83[ASN][1000 genomes]
rs7178734	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7179815	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8025507	0.81[ASN][1000 genomes]
rs8027160	0.86[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap]
rs8040046	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs953888	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs976216	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9920069	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4932593	SEMA4B	cis	parietal	SCAN
rs4932593	ZNF710	cis	parietal	SCAN
rs4932593	FANCI	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92498200-92555000	Weak transcription	Gastric	stomach
2	chr15:92514000-92523200	Weak transcription	Aorta	Aorta
3	chr15:92515400-92519800	Enhancers	Left Ventricle	heart
4	chr15:92516000-92521200	Enhancers	Right Atrium	heart
5	chr15:92518000-92524400	Weak transcription	Spleen	Spleen
6	chr15:92518200-92526000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:92518800-92523800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:92518800-92524400	Weak transcription	Ovary	ovary
9	chr15:92518800-92525000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:92519000-92523200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:92519000-92525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:92519000-92529000	Weak transcription	Brain Angular Gyrus	brain
13	chr15:92519200-92519400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:92519200-92520400	Weak transcription	Fetal Heart	heart
15	chr15:92519200-92520400	Weak transcription	Right Ventricle	heart
16	chr15:92519200-92522600	Weak transcription	Brain Anterior Caudate	brain
17	chr15:92519200-92522600	Weak transcription	Brain Substantia Nigra	brain
18	chr15:92519200-92522800	Weak transcription	Brain Hippocampus Middle	brain
19	chr15:92519200-92523200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:92519200-92523200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:92519200-92523200	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:92519200-92523200	Weak transcription	Lung	lung
23	chr15:92519200-92523200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:92519200-92523800	Weak transcription	Psoas Muscle	Psoas
25	chr15:92519200-92524000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:92519200-92524000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:92519200-92525000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:92519200-92525000	Weak transcription	Esophagus	oesophagus

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