Variant report

Variant	rs1820964
Chromosome Location	chr2:10120786-10120787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10119873..10122415-chr2:10133377..10135043,2	K562	blood:
2	chr2:10118579..10121922-chr2:10122054..10125273,3	K562	blood:
3	chr2:10119057..10121922-chr2:10123491..10126489,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1001215	0.94[ASN][1000 genomes]
rs11893362	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12472800	0.95[ASN][1000 genomes]
rs12475243	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12614084	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12616347	0.95[ASN][1000 genomes]
rs12618788	0.95[ASN][1000 genomes]
rs12623004	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367383	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1367384	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1367388	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1367389	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1430621	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549752	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549753	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549754	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1835424	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1897165	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011523	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033326	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303920	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28444564	0.95[ASN][1000 genomes]
rs34950562	0.95[ASN][1000 genomes]
rs35341467	0.95[ASN][1000 genomes]
rs35646916	0.93[ASN][1000 genomes]
rs36033432	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791753	0.93[ASN][1000 genomes]
rs3791758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791760	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3828260	0.80[ASN][1000 genomes]
rs41264203	0.82[AFR][1000 genomes]
rs4610026	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4613247	0.83[AFR][1000 genomes]
rs4669511	0.81[ASN][1000 genomes]
rs6432047	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432048	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714600	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6743918	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs731453	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596288	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7601896	0.86[AFR][1000 genomes]
rs891500	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10113400-10124200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:10113400-10130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:10113800-10124600	Weak transcription	Fetal Kidney	kidney
11	chr2:10114200-10124200	Weak transcription	K562	blood
12	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:10116800-10121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:10116800-10124400	Weak transcription	Right Ventricle	heart
15	chr2:10116800-10125000	Weak transcription	Right Atrium	heart
16	chr2:10116800-10126200	Weak transcription	Esophagus	oesophagus
17	chr2:10117000-10121000	Weak transcription	NHLF	lung
18	chr2:10117000-10122600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:10117000-10123200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:10117000-10123800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:10117000-10124200	Weak transcription	Lung	lung
22	chr2:10117000-10124200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:10117200-10122200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:10117200-10122600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:10117200-10124200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:10118600-10124000	Weak transcription	Placenta	Placenta
27	chr2:10118800-10122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:10118800-10124400	Weak transcription	Liver	Liver
29	chr2:10119400-10126000	Enhancers	Osteobl	bone
30	chr2:10119600-10122400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:10119600-10125800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:10119600-10126400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:10119800-10121000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:10119800-10121200	Enhancers	Primary T cells from cord blood	blood
35	chr2:10119800-10121600	Strong transcription	HepG2	liver
36	chr2:10119800-10122600	Enhancers	NHDF-Ad	bronchial
37	chr2:10120000-10121000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:10120400-10120800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:10120400-10121600	Weak transcription	NH-A	brain
40	chr2:10120400-10122600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:10120400-10123200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:10120400-10131800	Weak transcription	Dnd41	blood
43	chr2:10120600-10124200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:10120600-10124400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:10120600-10125800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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