Variant report

Variant	rs2253888
Chromosome Location	chr10:50242449-50242450
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50239471..50243603-chr10:50247127..50250365,5	K562	blood:
2	chr10:50240413..50242966-chr10:50247127..50249363,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10776661	1.00[AMR][1000 genomes]
rs1107405	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs1877801	1.00[AMR][1000 genomes]
rs1913515	1.00[AMR][1000 genomes]
rs1913527	1.00[AMR][1000 genomes]
rs2137908	1.00[AMR][1000 genomes]
rs2175914	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247064	0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2249294	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2249644	1.00[AMR][1000 genomes]
rs2377693	1.00[AMR][1000 genomes]
rs2663022	1.00[AMR][1000 genomes]
rs2663026	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs2671718	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2940709	1.00[AMR][1000 genomes]
rs2941196	0.81[YRI][hapmap]
rs4240517	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs7393414	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7908106	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][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	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
2	esv3341340	chr10:50239946-50244344	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 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	chr10:50224600-50244800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:50227800-50243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:50232600-50245000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:50232800-50247800	Weak transcription	Right Atrium	heart
9	chr10:50232800-50255400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:50233800-50247000	Weak transcription	Right Ventricle	heart
12	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:50233800-50261400	Weak transcription	Spleen	Spleen
14	chr10:50234000-50249000	Strong transcription	Fetal Muscle Leg	muscle
15	chr10:50234000-50254200	Weak transcription	Left Ventricle	heart
16	chr10:50234200-50246800	Weak transcription	Fetal Intestine Small	intestine
17	chr10:50235200-50243000	Weak transcription	Lung	lung
18	chr10:50237400-50244200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr10:50237600-50248800	Weak transcription	Liver	Liver
20	chr10:50240600-50244000	Weak transcription	Adipose Nuclei	Adipose
21	chr10:50240600-50244800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:50240600-50246600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:50240600-50247200	Weak transcription	HSMMtube	muscle
24	chr10:50240600-50247400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:50240800-50243000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:50240800-50243000	Weak transcription	Fetal Stomach	stomach
27	chr10:50240800-50243000	Weak transcription	Ovary	ovary
28	chr10:50240800-50246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:50241600-50263200	Weak transcription	NHLF	lung
30	chr10:50242000-50243000	Weak transcription	Aorta	Aorta
31	chr10:50242400-50244600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:50242400-50246200	Weak transcription	Fetal Lung	lung
33	chr10:50242400-50258000	Weak transcription	Fetal Kidney	kidney
34	chr10:50242400-50259200	Weak transcription	Brain Substantia Nigra	brain

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