Variant report

Variant	rs1395328
Chromosome Location	chr4:125823531-125823532
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	chr4:125631876..125635862-chr4:125822303..125828252,7	MCF-7	breast:
2	chr4:125806088..125809015-chr4:125822425..125824576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10004729	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10004734	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10016561	0.82[EUR][1000 genomes]
rs10024371	0.82[ASN][1000 genomes]
rs10030199	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12374334	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12506706	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12650300	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1483607	0.86[EUR][1000 genomes]
rs1483611	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16997819	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008768	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1843000	0.85[EUR][1000 genomes]
rs1909101	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1995628	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28733838	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35052952	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4833309	0.87[CEU][hapmap]
rs62320480	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62320498	0.91[EUR][1000 genomes]
rs62323305	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6810487	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6826258	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6829998	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6831498	0.82[ASN][1000 genomes]
rs6857392	0.82[ASN][1000 genomes]
rs72685850	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7672680	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7677690	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7677713	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs951530	0.84[CEU][hapmap]
rs9637630	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9654205	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs976412	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976539	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv879884	chr4:125791252-125841892	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879885	chr4:125791252-125852874	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879886	chr4:125791252-125856465	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv470069	chr4:125807868-125850998	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv879887	chr4:125816783-125847530	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879888	chr4:125816783-125850022	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv879889	chr4:125816783-125853748	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1395328	ANKRD50	cis	Artery Tibial	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125821600-125824600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:125821600-125824800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:125821600-125824800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:125821600-125824800	Weak transcription	HMEC	breast
5	chr4:125822000-125824800	Weak transcription	NHEK	skin
6	chr4:125822400-125824800	Enhancers	Hela-S3	cervix
7	chr4:125822600-125823800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:125822800-125824200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:125823200-125823800	Enhancers	Fetal Muscle Leg	muscle
10	chr4:125823200-125824000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:125823200-125824800	Enhancers	Fetal Heart	heart
12	chr4:125823200-125824800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:125823400-125823600	Enhancers	Colon Smooth Muscle	Colon
14	chr4:125823400-125823600	Enhancers	Fetal Kidney	kidney
15	chr4:125823400-125823600	Enhancers	Fetal Stomach	stomach
16	chr4:125823400-125823800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:125823400-125823800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:125823400-125823800	Enhancers	Psoas Muscle	Psoas
19	chr4:125823400-125823800	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:125823400-125824000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:125823400-125824200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:125823400-125824200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:125823400-125824800	Enhancers	HSMMtube	muscle
24	chr4:125823400-125825800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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