Variant report

Variant	rs233053
Chromosome Location	chr1:85839507-85839508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:
2	chr1:85832497..85835404-chr1:85838453..85841129,2	K562	blood:
3	chr1:85839315..85841036-chr1:85844742..85846261,2	K562	blood:
4	chr1:85836816..85838339-chr1:85838426..85841342,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1001604	1.00[CEU][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1006988	0.83[YRI][hapmap]
rs1006989	0.83[YRI][hapmap]
rs10489513	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161606	0.82[ASW][hapmap];0.81[CEU][hapmap];0.89[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];0.86[AFR][1000 genomes]
rs11161607	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11161611	0.89[CEU][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1146379	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1146382	0.84[CEU][hapmap]
rs12044537	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12047422	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12124170	0.86[EUR][1000 genomes]
rs12125557	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12140103	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1498373	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.85[EUR][1000 genomes]
rs1498375	0.85[EUR][1000 genomes]
rs1554597	0.83[ASW][hapmap];0.89[CEU][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs173026	0.85[EUR][1000 genomes]
rs18582	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.86[EUR][1000 genomes]
rs1884139	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2011825	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2012683	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2037594	0.84[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2177461	0.88[CEU][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2207368	0.87[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2268667	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.86[EUR][1000 genomes]
rs2300634	0.85[CEU][hapmap];0.80[JPT][hapmap];0.85[EUR][1000 genomes]
rs2300637	0.86[EUR][1000 genomes]
rs233047	0.85[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs233050	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	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233055	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233057	0.86[EUR][1000 genomes]
rs233058	0.86[EUR][1000 genomes]
rs233059	0.86[EUR][1000 genomes]
rs233060	0.86[EUR][1000 genomes]
rs233061	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233062	0.86[EUR][1000 genomes]
rs233066	0.86[EUR][1000 genomes]
rs233067	0.86[EUR][1000 genomes]
rs233068	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233069	0.86[EUR][1000 genomes]
rs233071	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs233072	0.88[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233074	0.80[EUR][1000 genomes]
rs233091	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs233093	0.85[CEU][hapmap];0.91[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs233095	0.86[EUR][1000 genomes]
rs233097	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233099	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs233108	0.85[EUR][1000 genomes]
rs233109	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233112	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233113	0.85[CEU][hapmap];0.80[JPT][hapmap];0.86[EUR][1000 genomes]
rs233114	0.86[EUR][1000 genomes]
rs233115	0.84[CEU][hapmap];0.93[GIH][hapmap];0.85[EUR][1000 genomes]
rs233118	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233119	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs233120	0.85[EUR][1000 genomes]
rs233121	0.86[EUR][1000 genomes]
rs233124	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233127	0.80[JPT][hapmap];0.86[EUR][1000 genomes]
rs233130	0.96[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs233131	0.86[EUR][1000 genomes]
rs233132	0.86[EUR][1000 genomes]
rs233133	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2474123	0.88[CEU][hapmap];0.81[MKK][hapmap];0.87[AMR][1000 genomes]
rs2892888	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3087894	0.85[EUR][1000 genomes]
rs3768227	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.85[EUR][1000 genomes]
rs3920521	0.89[AFR][1000 genomes]
rs3949301	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs423105	0.86[EUR][1000 genomes]
rs4949890	0.86[EUR][1000 genomes]
rs4949900	0.89[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs506082	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576761	0.85[AFR][1000 genomes]
rs6576763	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576764	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6576765	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6576766	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6576767	0.88[EUR][1000 genomes]
rs6657732	0.89[GIH][hapmap]
rs6657817	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6671599	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66811655	0.85[EUR][1000 genomes]
rs669173	0.83[GIH][hapmap]
rs6697083	0.81[CEU][hapmap]
rs6704103	0.89[CEU][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67611930	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72724606	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs729655	0.93[AFR][1000 genomes]
rs7525786	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs761601	0.85[CEU][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.86[EUR][1000 genomes]
rs997251	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.92[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	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
2	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
3	chr1:85832800-85839600	Weak transcription	HMEC	breast
4	chr1:85834400-85839800	Weak transcription	Stomach Mucosa	stomach
5	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:85835800-85839800	Weak transcription	Right Ventricle	heart
8	chr1:85836000-85840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:85836600-85840400	Enhancers	Liver	Liver
10	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:85837000-85839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:85837000-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:85837400-85840400	Enhancers	HSMM	muscle
15	chr1:85837800-85840000	Enhancers	Fetal Lung	lung
16	chr1:85837800-85840200	Enhancers	Fetal Stomach	stomach
17	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:85838000-85840200	Enhancers	NHLF	lung
19	chr1:85838200-85842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85838400-85839800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:85838400-85840000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:85838400-85840000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:85838400-85840000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:85838400-85840400	Enhancers	NHEK	skin
25	chr1:85838400-85840800	Enhancers	Fetal Kidney	kidney
26	chr1:85838400-85842800	Enhancers	HUVEC	blood vessel
27	chr1:85838600-85840000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:85838600-85843400	Weak transcription	Fetal Brain Female	brain
29	chr1:85838800-85839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:85838800-85840000	Enhancers	Hela-S3	cervix
31	chr1:85838800-85840200	Enhancers	HSMMtube	muscle
32	chr1:85838800-85842600	Enhancers	Colon Smooth Muscle	Colon
33	chr1:85839000-85839600	Enhancers	A549	lung
34	chr1:85839000-85839800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:85839000-85839800	Enhancers	Aorta	Aorta
36	chr1:85839000-85840000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:85839000-85840000	Enhancers	Ovary	ovary
38	chr1:85839000-85840200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:85839000-85840200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:85839000-85840400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:85839000-85840400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:85839000-85840400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:85839000-85840400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:85839000-85841200	Weak transcription	Fetal Heart	heart
45	chr1:85839000-85841200	Enhancers	NH-A	brain
46	chr1:85839000-85841600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:85839000-85841800	Enhancers	NHDF-Ad	bronchial
48	chr1:85839000-85842600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:85839000-85843600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:85839200-85839600	Weak transcription	Brain Anterior Caudate	brain

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