Variant report

Variant	rs2250257
Chromosome Location	chr10:50249509-50249510
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	chr10:50243019..50245477-chr10:50248832..50250712,2	MCF-7	breast:
2	chr10:50239471..50243603-chr10:50247127..50250365,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12269023	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2246463	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250146	0.95[ASN][1000 genomes]
rs2250349	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250602	0.92[ASN][1000 genomes]
rs2943253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943254	0.95[ASN][1000 genomes]
rs4128908	0.89[ASN][1000 genomes]
rs4129035	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4240498	0.86[ASN][1000 genomes]
rs4317903	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4317904	0.87[ASN][1000 genomes]
rs4403731	0.87[ASN][1000 genomes]
rs4421674	0.87[ASN][1000 genomes]
rs6537493	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6537494	0.86[ASN][1000 genomes]
rs7074818	0.86[ASN][1000 genomes]
rs7093398	0.87[ASN][1000 genomes]
rs7097933	0.87[ASN][1000 genomes]
rs7897289	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7906722	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7916825	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:50223000-50254200	Weak transcription	NHDF-Ad	bronchial
3	chr10:50224400-50258200	Weak transcription	Brain Anterior Caudate	brain
4	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:50232800-50255400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:50233800-50261400	Weak transcription	Spleen	Spleen
9	chr10:50234000-50254200	Weak transcription	Left Ventricle	heart
10	chr10:50241600-50263200	Weak transcription	NHLF	lung
11	chr10:50242400-50258000	Weak transcription	Fetal Kidney	kidney
12	chr10:50242400-50259200	Weak transcription	Brain Substantia Nigra	brain
13	chr10:50243400-50261200	Weak transcription	Lung	lung
14	chr10:50243800-50278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:50245400-50258200	Weak transcription	Osteobl	bone
16	chr10:50245600-50264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:50245800-50257800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:50247000-50259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:50247000-50282600	Weak transcription	Brain Angular Gyrus	brain
20	chr10:50247200-50253800	Weak transcription	Adipose Nuclei	Adipose
21	chr10:50247600-50250200	Weak transcription	HSMMtube	muscle
22	chr10:50247800-50250000	Weak transcription	Fetal Lung	lung
23	chr10:50247800-50253600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:50247800-50255000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:50247800-50271600	Weak transcription	Fetal Intestine Small	intestine
26	chr10:50248000-50250400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:50248000-50255000	Weak transcription	Right Ventricle	heart
28	chr10:50248200-50250000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:50248200-50250400	Weak transcription	Aorta	Aorta
30	chr10:50248200-50251200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr10:50248200-50253400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr10:50248400-50250000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:50248400-50250400	Weak transcription	Ovary	ovary
34	chr10:50249000-50250200	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:50249000-50250200	Weak transcription	Fetal Stomach	stomach
36	chr10:50249200-50258000	Weak transcription	Liver	Liver

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