Variant report

Variant	rs2012683
Chromosome Location	chr1:85841485-85841486
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	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001604	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10489513	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11161606	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11161607	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161610	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11161611	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1146379	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12044537	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12047422	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12124170	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12125557	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12140103	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498373	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498375	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1554597	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs173026	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs18582	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1884139	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011825	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2037594	0.85[AFR][1000 genomes]
rs2177461	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207368	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268667	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300634	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300637	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233047	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233050	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233053	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs233054	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233055	0.82[EUR][1000 genomes]
rs233057	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233058	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233059	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233060	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233061	0.86[EUR][1000 genomes]
rs233062	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233066	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233067	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233068	0.86[EUR][1000 genomes]
rs233069	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233071	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233072	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs233074	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs233091	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233093	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233095	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233097	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs233099	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233108	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233109	0.86[EUR][1000 genomes]
rs233112	0.85[EUR][1000 genomes]
rs233113	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233114	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233115	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233118	0.86[EUR][1000 genomes]
rs233119	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233120	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233121	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233124	0.86[EUR][1000 genomes]
rs233127	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233130	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233131	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233132	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233133	0.86[EUR][1000 genomes]
rs2840319	0.84[AMR][1000 genomes]
rs2892888	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087894	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3768227	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3920521	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3949301	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs423105	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4949890	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4949900	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs506082	0.87[EUR][1000 genomes]
rs6576761	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6576763	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6576764	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6576765	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6576766	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6576767	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6657817	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6671599	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66811655	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6704103	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67611930	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72724606	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs729655	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7525786	0.86[AFR][1000 genomes]
rs7547571	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs761601	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs997251	0.95[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:45 , 50 per page) page: 1

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	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:85838200-85842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:85838400-85842800	Enhancers	HUVEC	blood vessel
8	chr1:85838600-85843400	Weak transcription	Fetal Brain Female	brain
9	chr1:85838800-85842600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:85839000-85841600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:85839000-85841800	Enhancers	NHDF-Ad	bronchial
12	chr1:85839000-85842600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:85839000-85843600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:85839400-85841800	Enhancers	Osteobl	bone
15	chr1:85839400-85842000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:85839400-85846400	Weak transcription	Small Intestine	intestine
17	chr1:85839600-85841800	Enhancers	Brain Anterior Caudate	brain
18	chr1:85839800-85842600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
20	chr1:85840000-85844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:85840000-85844200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:85840000-85844800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:85840000-85844800	Weak transcription	Ovary	ovary
24	chr1:85840000-85845200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:85840200-85844400	Weak transcription	HSMMtube	muscle
26	chr1:85840200-85844800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:85840200-85844800	Weak transcription	Fetal Stomach	stomach
28	chr1:85840200-85845200	Weak transcription	HepG2	liver
29	chr1:85840200-85845400	Weak transcription	NHLF	lung
30	chr1:85840200-85845600	Weak transcription	Psoas Muscle	Psoas
31	chr1:85840400-85845200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:85840400-85845200	Weak transcription	HSMM	muscle
33	chr1:85840400-85845400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:85840400-85848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:85840800-85841800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:85840800-85842000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:85840800-85842000	Enhancers	Liver	Liver
38	chr1:85841000-85841600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:85841000-85842600	Enhancers	A549	lung
40	chr1:85841200-85841800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:85841200-85842200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:85841200-85842400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
44	chr1:85841200-85859800	Weak transcription	NH-A	brain
45	chr1:85841400-85842400	Enhancers	Fetal Kidney	kidney

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