Variant report

Variant	rs2377976
Chromosome Location	chr10:50479493-50479494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50476174..50479892-chr10:50480036..50482768,4	K562	blood:
2	chr10:50477072..50479723-chr10:50481880..50483777,2	K562	blood:
3	chr10:50478467..50480790-chr10:50505302..50507666,2	K562	blood:

Variant related genes	Relation type
ENSG00000236208	Chromatin interaction
ENSG00000177354	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10732630	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10732631	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10735220	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10735221	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10745257	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776550	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776551	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10776553	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10776555	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10857454	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857455	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857456	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857458	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857460	0.88[ASW][hapmap];1.00[GIH][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11101075	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101076	0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12254955	1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009669	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17009755	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009880	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009886	0.85[EUR][1000 genomes]
rs2292201	0.90[GIH][hapmap]
rs2377975	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2377977	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2377978	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2377979	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2889806	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3996894	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3996895	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4297382	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4310533	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4478905	1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4483512	1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4582889	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4600130	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838376	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838377	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4838479	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4838480	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4838481	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4838482	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4838483	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838485	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838486	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537519	0.88[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537520	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7068959	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7082585	0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7085410	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7098191	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73308728	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73308730	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73308731	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7905866	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7911371	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7911514	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7913006	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7913851	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50470800-50480800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50477800-50480400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:50478000-50480600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:50478200-50479600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr10:50478200-50481800	Enhancers	Left Ventricle	heart
6	chr10:50478200-50482000	Enhancers	Fetal Heart	heart
7	chr10:50478200-50482200	Enhancers	Primary hematopoietic stem cells	blood
8	chr10:50478200-50482400	Enhancers	Fetal Muscle Leg	muscle
9	chr10:50478400-50482000	Enhancers	Fetal Muscle Trunk	muscle
10	chr10:50478600-50479800	Bivalent Enhancer	Placenta	Placenta
11	chr10:50478600-50481600	Enhancers	Psoas Muscle	Psoas
12	chr10:50478600-50481600	Enhancers	Right Ventricle	heart
13	chr10:50478600-50481600	Enhancers	Spleen	Spleen
14	chr10:50478600-50483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:50478800-50481600	Enhancers	Right Atrium	heart
16	chr10:50478800-50482000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr10:50479000-50480000	Enhancers	HSMM	muscle
18	chr10:50479000-50481800	Enhancers	NHDF-Ad	bronchial
19	chr10:50479000-50482000	Enhancers	HSMMtube	muscle
20	chr10:50479200-50480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:50479200-50481600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:50479200-50483200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:50479400-50479600	Enhancers	Lung	lung
24	chr10:50479400-50481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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