Variant report

Variant	rs13009708
Chromosome Location	chr2:10290629-10290630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10289232..10291569-chr2:10295558..10297132,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10172702	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10179663	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179866	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10192090	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10197121	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10202672	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10209383	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11896140	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12692399	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987867	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010608	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028656	0.87[ASN][1000 genomes]
rs13398833	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13420725	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16855510	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2110641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110642	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2160190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241113	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357466	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357467	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669531	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432067	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432068	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432069	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706570	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707144	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707406	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709408	0.93[ASN][1000 genomes]
rs6715077	0.95[ASN][1000 genomes]
rs6749325	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420698	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7566175	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605457	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:10274000-10299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:10276600-10301800	Weak transcription	Osteobl	bone
7	chr2:10277600-10321600	Weak transcription	K562	blood
8	chr2:10277800-10295400	Weak transcription	Hela-S3	cervix
9	chr2:10278000-10302200	Weak transcription	HSMM	muscle
10	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:10279400-10292000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:10279600-10295600	Weak transcription	Fetal Brain Female	brain
13	chr2:10281000-10292400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:10281000-10294200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:10284400-10299400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:10284600-10295400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:10285000-10299400	Weak transcription	Fetal Lung	lung
19	chr2:10285200-10299800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:10285400-10302000	Weak transcription	HMEC	breast
21	chr2:10285600-10307400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:10285800-10310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:10286200-10293600	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:10286200-10299600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:10286400-10296000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:10286400-10301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
28	chr2:10286600-10304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:10286800-10295800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:10286800-10296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:10286800-10299400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:10286800-10312400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:10287000-10293400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:10287000-10295600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:10287000-10298200	Weak transcription	GM12878-XiMat	blood
36	chr2:10287000-10301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:10287000-10303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:10287000-10312000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:10287800-10295600	Weak transcription	Fetal Intestine Small	intestine
40	chr2:10287800-10295800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:10288400-10307600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:10288800-10292000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:10289600-10291400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:10289600-10291400	Enhancers	Primary T cells from cord blood	blood
45	chr2:10289800-10291200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:10290000-10295200	Weak transcription	HepG2	liver
47	chr2:10290200-10291400	Enhancers	Fetal Thymus	thymus
48	chr2:10290200-10293600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:10290200-10293600	Weak transcription	A549	lung
50	chr2:10290200-10295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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