Variant report

Variant	rs233050
Chromosome Location	chr1:85837793-85837794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85836816..85838339-chr1:85838426..85841342,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1001604	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10489513	0.89[CEU][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11161606	0.92[CEU][hapmap];0.89[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11161607	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11161610	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11161611	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044537	0.88[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12047422	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12124170	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12125557	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12140103	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1342323	0.94[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1498373	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1498375	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1554597	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs173026	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs18582	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1884139	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2011825	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012683	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2177461	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2207368	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2268667	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2300634	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2300637	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233047	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233053	0.89[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233055	0.81[EUR][1000 genomes]
rs233057	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233058	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233059	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233060	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233061	0.86[EUR][1000 genomes]
rs233062	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233066	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233067	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233068	0.87[EUR][1000 genomes]
rs233069	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233071	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233072	0.85[CEU][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.87[EUR][1000 genomes]
rs233074	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233091	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233093	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233095	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233097	0.87[EUR][1000 genomes]
rs233099	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233108	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233109	0.86[EUR][1000 genomes]
rs233112	0.85[CEU][hapmap];0.91[GIH][hapmap];0.85[EUR][1000 genomes]
rs233113	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233114	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233115	0.92[CEU][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233118	0.85[CEU][hapmap];0.91[GIH][hapmap];0.85[EUR][1000 genomes]
rs233119	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233120	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233121	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs233124	0.85[CEU][hapmap];0.91[GIH][hapmap];0.85[EUR][1000 genomes]
rs233127	0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233130	0.85[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233131	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233132	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233133	0.86[EUR][1000 genomes]
rs2840319	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2892888	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3087894	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768227	0.96[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3920521	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3949301	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs423105	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4949890	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4949900	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs506082	0.86[EUR][1000 genomes]
rs6576761	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6576763	0.89[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6576764	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6576765	0.89[CEU][hapmap];0.95[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6576766	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6576767	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6657732	0.85[GIH][hapmap]
rs6657817	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6671599	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66811655	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697083	0.95[CEU][hapmap]
rs6704103	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67611930	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72724606	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs729655	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7547571	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs761601	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs997251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs233050	WDR63	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
3	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
4	chr1:85825000-85839000	Weak transcription	Aorta	Aorta
5	chr1:85826200-85838800	Weak transcription	Hela-S3	cervix
6	chr1:85827000-85837800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:85827200-85839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:85828000-85838800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:85829400-85838400	Weak transcription	Fetal Kidney	kidney
11	chr1:85829600-85839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:85832800-85838400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:85832800-85838800	Weak transcription	HSMMtube	muscle
14	chr1:85832800-85839600	Weak transcription	HMEC	breast
15	chr1:85833000-85838400	Weak transcription	NHEK	skin
16	chr1:85833400-85839000	Weak transcription	NH-A	brain
17	chr1:85834200-85839000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:85834400-85838000	Weak transcription	NHLF	lung
19	chr1:85834400-85838200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85834400-85839800	Weak transcription	Stomach Mucosa	stomach
21	chr1:85834600-85838400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:85834800-85838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
24	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:85835000-85837800	Weak transcription	Fetal Stomach	stomach
26	chr1:85835800-85839800	Weak transcription	Right Ventricle	heart
27	chr1:85836000-85838000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:85836000-85839000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:85836000-85839000	Weak transcription	Psoas Muscle	Psoas
30	chr1:85836000-85840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:85836200-85838800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:85836400-85837800	Weak transcription	Osteobl	bone
33	chr1:85836400-85838400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:85836400-85839000	Weak transcription	NHDF-Ad	bronchial
35	chr1:85836600-85840400	Enhancers	Liver	Liver
36	chr1:85836800-85838000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:85836800-85838200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:85836800-85838800	Enhancers	Adipose Nuclei	Adipose
39	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:85837000-85837800	Weak transcription	Fetal Lung	lung
41	chr1:85837000-85838400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:85837000-85838400	Weak transcription	Small Intestine	intestine
43	chr1:85837000-85838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:85837000-85839000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:85837000-85839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:85837000-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:85837200-85838400	Weak transcription	HUVEC	blood vessel
48	chr1:85837200-85839000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:85837200-85839400	Weak transcription	HepG2	liver
50	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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