Variant report

Variant	rs6845533
Chromosome Location	chr4:127837597-127837598
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:127836489..127839224-chr4:127843135..127845603,3	K562	blood:
2	chr4:127829570..127832511-chr4:127837183..127839221,2	K562	blood:
3	chr4:127834827..127837807-chr4:127876060..127878431,3	K562	blood:
4	chr4:127661681..127663731-chr4:127834793..127837662,2	K562	blood:
5	chr4:127815806..127818059-chr4:127836470..127838951,2	K562	blood:
6	chr4:127837336..127840595-chr4:127841845..127844846,5	K562	blood:
7	chr4:127836337..127838086-chr4:127874738..127876500,2	K562	blood:
8	chr4:127836086..127837603-chr4:127876931..127879526,2	K562	blood:

No data

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10002550	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10006007	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009534	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10011592	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10013614	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10018143	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10022263	0.80[AMR][1000 genomes]
rs10029439	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031723	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11098899	0.87[ASN][1000 genomes]
rs11098906	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11729025	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731081	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331011	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513145	0.87[ASN][1000 genomes]
rs13114412	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13142376	0.86[YRI][hapmap]
rs13152355	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13152658	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13435387	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435810	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393991	0.80[CEU][hapmap]
rs1397437	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1472701	0.87[ASN][1000 genomes]
rs1503630	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1503633	0.87[ASN][1000 genomes]
rs1510674	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510686	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1510687	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1510688	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16997940	0.87[ASN][1000 genomes]
rs17011892	0.83[ASN][1000 genomes]
rs17208298	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17208690	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17274049	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17274383	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1848934	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1960359	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1995902	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221773	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs28376541	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28706560	0.80[AFR][1000 genomes]
rs28711664	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28733864	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28866815	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28881307	0.81[AFR][1000 genomes]
rs28897108	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36069962	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4834144	0.87[ASN][1000 genomes]
rs4834146	0.87[ASN][1000 genomes]
rs4834147	0.87[ASN][1000 genomes]
rs62323482	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62323485	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323486	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323519	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324472	0.83[ASN][1000 genomes]
rs6821583	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6821961	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6825686	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs6849694	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7662706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667215	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676052	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs955791	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs965298	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap]
rs993364	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9997578	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6845533	WDYHV1	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127836600-127837800	Enhancers	Fetal Brain Male	brain
2	chr4:127836600-127838000	Enhancers	Colon Smooth Muscle	Colon
3	chr4:127836800-127837600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:127836800-127837600	Enhancers	Fetal Lung	lung
5	chr4:127836800-127837600	Enhancers	NHLF	lung
6	chr4:127836800-127838200	Enhancers	Fetal Muscle Leg	muscle
7	chr4:127837000-127838400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:127837000-127838400	Enhancers	Adipose Nuclei	Adipose
9	chr4:127837000-127838400	Active TSS	K562	blood
10	chr4:127837000-127838600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:127837000-127838600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:127837200-127837600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:127837200-127837600	Enhancers	Stomach Smooth Muscle	stomach
14	chr4:127837200-127837600	Enhancers	NH-A	brain
15	chr4:127837200-127838000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:127837200-127838000	Enhancers	Brain Hippocampus Middle	brain
17	chr4:127837200-127838200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:127837200-127838200	Active TSS	Aorta	Aorta
19	chr4:127837200-127838200	Active TSS	Fetal Brain Female	brain
20	chr4:127837200-127838400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:127837200-127838400	Enhancers	Fetal Stomach	stomach
22	chr4:127837200-127838400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr4:127837200-127838600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:127837400-127837800	Enhancers	NHEK	skin
25	chr4:127837400-127838000	Enhancers	Brain Angular Gyrus	brain
26	chr4:127837400-127838000	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:127837400-127838200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:127837400-127838400	Flanking Active TSS	Osteobl	bone

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