Variant report

Variant	rs233054
Chromosome Location	chr1:85840191-85840192
allele	G/T
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	chr1:85839536..85841245-chr1:85843364..85846261,2	K562	blood:
5	chr1:85836816..85838339-chr1:85838426..85841342,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1001604	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10489513	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11161606	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11161607	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161610	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11161611	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044537	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12047422	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12124170	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12125557	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12140103	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1342323	0.84[AFR][1000 genomes]
rs1498373	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498375	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1554597	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs173026	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs18582	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1884139	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011825	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012683	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177461	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207368	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268667	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300634	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300637	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233047	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233053	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233055	0.81[EUR][1000 genomes]
rs233057	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233058	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233059	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233060	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233061	0.86[EUR][1000 genomes]
rs233062	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233066	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233067	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233068	0.87[EUR][1000 genomes]
rs233069	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233071	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233072	0.87[EUR][1000 genomes]
rs233074	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233091	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233093	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233095	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233097	0.87[EUR][1000 genomes]
rs233099	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233108	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233109	0.86[EUR][1000 genomes]
rs233112	0.85[EUR][1000 genomes]
rs233113	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233114	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233115	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233118	0.85[EUR][1000 genomes]
rs233119	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233120	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233121	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233124	0.85[EUR][1000 genomes]
rs233127	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233130	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233131	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233132	0.91[EUR][1000 genomes];0.94[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];0.97[ASN][1000 genomes]
rs3087894	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3768227	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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];0.92[ASN][1000 genomes]
rs423105	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4949890	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4949900	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs506082	0.86[EUR][1000 genomes]
rs6576761	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6576763	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6576764	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6576765	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];0.97[ASN][1000 genomes]
rs6657817	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6671599	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66811655	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6704103	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67611930	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72724606	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs997251	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:85836000-85840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:85836600-85840400	Enhancers	Liver	Liver
5	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:85837000-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:85837400-85840400	Enhancers	HSMM	muscle
9	chr1:85837800-85840200	Enhancers	Fetal Stomach	stomach
10	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:85838000-85840200	Enhancers	NHLF	lung
12	chr1:85838200-85842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:85838400-85840400	Enhancers	NHEK	skin
14	chr1:85838400-85840800	Enhancers	Fetal Kidney	kidney
15	chr1:85838400-85842800	Enhancers	HUVEC	blood vessel
16	chr1:85838600-85843400	Weak transcription	Fetal Brain Female	brain
17	chr1:85838800-85840200	Enhancers	HSMMtube	muscle
18	chr1:85838800-85842600	Enhancers	Colon Smooth Muscle	Colon
19	chr1:85839000-85840200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:85839000-85840200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:85839000-85840400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:85839000-85840400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:85839000-85840400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:85839000-85840400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:85839000-85841200	Weak transcription	Fetal Heart	heart
26	chr1:85839000-85841200	Enhancers	NH-A	brain
27	chr1:85839000-85841600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:85839000-85841800	Enhancers	NHDF-Ad	bronchial
29	chr1:85839000-85842600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:85839000-85843600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:85839200-85840200	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:85839400-85840200	Enhancers	HepG2	liver
33	chr1:85839400-85841800	Enhancers	Osteobl	bone
34	chr1:85839400-85842000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:85839400-85846400	Weak transcription	Small Intestine	intestine
36	chr1:85839600-85840200	Enhancers	Gastric	stomach
37	chr1:85839600-85840200	Enhancers	Left Ventricle	heart
38	chr1:85839600-85840200	Enhancers	Pancreas	Pancrea
39	chr1:85839600-85840200	Enhancers	Psoas Muscle	Psoas
40	chr1:85839600-85840200	Enhancers	HMEC	breast
41	chr1:85839600-85841800	Enhancers	Brain Anterior Caudate	brain
42	chr1:85839800-85840200	Enhancers	Stomach Mucosa	stomach
43	chr1:85839800-85840400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:85839800-85841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:85839800-85842600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
47	chr1:85840000-85840200	Active TSS	A549	lung
48	chr1:85840000-85840800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:85840000-85840800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:85840000-85840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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