Variant report

Variant	rs731453
Chromosome Location	chr2:10124656-10124657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10091162..10093272-chr2:10122977..10125313,2	MCF-7	breast:
2	chr2:10124031..10125985-chr2:10182385..10183963,2	MCF-7	breast:
3	chr2:10118579..10121922-chr2:10122054..10125273,3	K562	blood:
4	chr2:10123969..10126357-chr2:10126821..10128999,2	MCF-7	breast:
5	chr2:10124029..10125034-chr2:10188472..10189404,3	MCF-7	breast:
6	chr2:10124646..10126167-chr2:10126263..10128790,2	K562	blood:
7	chr2:10124090..10124739-chr2:10237291..10238060,2	MCF-7	breast:
8	chr2:10124482..10124991-chr2:10188539..10189079,2	K562	blood:
9	chr2:10111585..10113356-chr2:10123202..10126710,3	K562	blood:
10	chr2:10122873..10124837-chr2:10586757..10588476,2	K562	blood:
11	chr2:10119057..10121922-chr2:10123491..10126489,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206633	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000115758	Chromatin interaction

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

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

rs_ID	r²[population]
rs1001215	0.95[ASN][1000 genomes]
rs11893362	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470881	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs12472800	0.96[ASN][1000 genomes]
rs12475243	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12614084	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12616347	0.94[ASN][1000 genomes]
rs12618788	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12623004	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009358	0.80[AMR][1000 genomes]
rs1367383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1367384	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1367388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1367389	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1430621	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549754	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1820964	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1835424	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1897165	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011523	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2033326	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28444564	0.96[ASN][1000 genomes]
rs34950562	0.97[ASN][1000 genomes]
rs35341467	0.97[ASN][1000 genomes]
rs35646916	0.94[ASN][1000 genomes]
rs36033432	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3791753	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3791758	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3791760	0.91[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3828260	0.93[CHB][hapmap]
rs4610026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669511	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs55780001	0.81[AFR][1000 genomes]
rs6432047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714600	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6743918	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596288	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs891500	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:10113400-10130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:10116800-10125000	Weak transcription	Right Atrium	heart
10	chr2:10116800-10126200	Weak transcription	Esophagus	oesophagus
11	chr2:10119400-10126000	Enhancers	Osteobl	bone
12	chr2:10119600-10125800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:10119600-10126400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:10120400-10131800	Weak transcription	Dnd41	blood
15	chr2:10120600-10125800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:10121200-10128000	Weak transcription	Fetal Brain Male	brain
17	chr2:10121600-10127000	Weak transcription	HepG2	liver
18	chr2:10122200-10126000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:10122600-10125000	Enhancers	Fetal Muscle Leg	muscle
20	chr2:10122600-10125200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:10122600-10126200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:10122600-10126400	Enhancers	Adipose Nuclei	Adipose
23	chr2:10122800-10126000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:10123000-10126400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:10123200-10125200	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:10123400-10126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:10123400-10126200	Enhancers	NHDF-Ad	bronchial
28	chr2:10123400-10126400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:10123800-10125000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:10124000-10125400	Enhancers	Placenta	Placenta
31	chr2:10124000-10136400	Weak transcription	Hela-S3	cervix
32	chr2:10124200-10124800	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:10124200-10124800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr2:10124200-10124800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:10124200-10124800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:10124200-10124800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:10124200-10124800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr2:10124200-10124800	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:10124200-10124800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:10124200-10124800	Enhancers	Fetal Stomach	stomach
41	chr2:10124200-10125000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr2:10124200-10125000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:10124200-10125000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:10124200-10125000	Enhancers	Left Ventricle	heart
45	chr2:10124200-10125000	Enhancers	Ovary	ovary
46	chr2:10124200-10125000	Enhancers	Psoas Muscle	Psoas
47	chr2:10124200-10125000	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:10124200-10125200	Enhancers	Brain Hippocampus Middle	brain
49	chr2:10124200-10125200	Enhancers	Lung	lung
50	chr2:10124200-10125200	Enhancers	Pancreas	Pancrea

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