Variant report

Variant	rs2254412
Chromosome Location	chr10:50238272-50238273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50237310..50239501-chr10:50496062..50498028,2	K562	blood:
2	chr10:50219903..50222688-chr10:50236599..50239408,3	K562	blood:
3	chr10:50238076..50239629-chr10:50322645..50324960,2	K562	blood:
4	chr10:50229481..50231907-chr10:50238016..50240371,2	K562	blood:

Variant related genes	Relation type
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1055583	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1877804	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913518	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1913519	0.96[ASN][1000 genomes]
rs1913521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996185	0.96[ASN][1000 genomes]
rs2137920	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2175918	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2243994	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244575	0.93[ASN][1000 genomes]
rs2244967	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2245145	0.91[ASN][1000 genomes]
rs2245147	0.91[ASN][1000 genomes]
rs2245149	0.91[ASN][1000 genomes]
rs2245162	0.91[ASN][1000 genomes]
rs2245165	0.88[ASN][1000 genomes]
rs2253873	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254384	1.00[ASN][1000 genomes]
rs2254393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254409	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2254410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254740	1.00[ASN][1000 genomes]
rs2254754	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254863	0.93[ASN][1000 genomes]
rs2255253	0.92[ASN][1000 genomes]
rs2255360	0.94[ASN][1000 genomes]
rs2255739	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255943	0.92[ASN][1000 genomes]
rs2264555	0.92[ASN][1000 genomes]
rs2264844	0.92[ASN][1000 genomes]
rs2264848	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2264849	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2458672	0.92[ASN][1000 genomes]
rs2466751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466754	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2466755	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2725199	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2955063	0.91[ASN][1000 genomes]
rs883017	0.94[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:33 , 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	chr10:50227800-50238800	Weak transcription	HSMMtube	muscle
6	chr10:50227800-50243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr10:50232200-50241800	Weak transcription	Fetal Kidney	kidney
8	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
9	chr10:50232600-50245000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:50232800-50242000	Weak transcription	Brain Substantia Nigra	brain
11	chr10:50232800-50247800	Weak transcription	Right Atrium	heart
12	chr10:50232800-50255400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:50233000-50239800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:50233400-50241600	Weak transcription	Fetal Lung	lung
16	chr10:50233800-50247000	Weak transcription	Right Ventricle	heart
17	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr10:50233800-50261400	Weak transcription	Spleen	Spleen
19	chr10:50234000-50249000	Strong transcription	Fetal Muscle Leg	muscle
20	chr10:50234000-50254200	Weak transcription	Left Ventricle	heart
21	chr10:50234200-50246800	Weak transcription	Fetal Intestine Small	intestine
22	chr10:50234800-50240800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr10:50235200-50243000	Weak transcription	Lung	lung
24	chr10:50236200-50240800	Strong transcription	Ovary	ovary
25	chr10:50236600-50240600	Strong transcription	Adipose Nuclei	Adipose
26	chr10:50237000-50238600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:50237400-50238800	Strong transcription	Aorta	Aorta
28	chr10:50237400-50240800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:50237400-50240800	Strong transcription	Fetal Stomach	stomach
30	chr10:50237400-50244200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr10:50237600-50240600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:50237600-50248800	Weak transcription	Liver	Liver
33	chr10:50238200-50240600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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