Variant report

Variant	rs4012668
Chromosome Location	chr10:50241322-50241323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50239471..50243603-chr10:50247127..50250365,5	K562	blood:
2	chr10:50240413..50242966-chr10:50247127..50249363,2	K562	blood:
3	chr10:50235643..50238061-chr10:50238727..50242186,3	K562	blood:
4	chr10:50238868..50241425-chr10:50375110..50377223,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10218854	0.90[EUR][1000 genomes]
rs17011603	0.92[EUR][1000 genomes]
rs17011698	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011795	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17011910	0.85[EUR][1000 genomes]
rs17700453	0.95[EUR][1000 genomes]
rs1913524	0.95[EUR][1000 genomes]
rs2137918	0.95[EUR][1000 genomes]
rs2137919	1.00[EUR][1000 genomes]
rs2244085	1.00[EUR][1000 genomes]
rs2244704	0.88[EUR][1000 genomes]
rs2254632	1.00[EUR][1000 genomes]
rs2466749	1.00[EUR][1000 genomes]
rs2466750	1.00[EUR][1000 genomes]
rs41301107	0.87[EUR][1000 genomes]
rs4838361	0.92[EUR][1000 genomes]
rs4838362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4838364	0.90[EUR][1000 genomes]
rs4838368	0.85[EUR][1000 genomes]
rs4838440	0.95[EUR][1000 genomes]
rs4838445	0.90[EUR][1000 genomes]
rs4838459	0.87[EUR][1000 genomes]
rs56192862	0.83[EUR][1000 genomes]
rs57328384	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58487442	0.92[EUR][1000 genomes]
rs59461690	0.83[EUR][1000 genomes]
rs61167870	0.89[EUR][1000 genomes]
rs61848150	0.89[EUR][1000 genomes]
rs61848154	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61848421	0.89[EUR][1000 genomes]
rs61848427	0.85[EUR][1000 genomes]
rs61848428	0.85[EUR][1000 genomes]
rs61848429	0.85[EUR][1000 genomes]
rs61848430	0.85[EUR][1000 genomes]
rs61848432	0.83[EUR][1000 genomes]
rs61850676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61850680	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6537495	0.90[EUR][1000 genomes]
rs6537500	0.83[EUR][1000 genomes]
rs7069441	0.90[EUR][1000 genomes]
rs7070829	0.85[EUR][1000 genomes]
rs7078930	0.85[EUR][1000 genomes]
rs7080670	0.90[EUR][1000 genomes]
rs7094220	0.90[EUR][1000 genomes]
rs7096516	0.90[EUR][1000 genomes]
rs7101339	0.90[EUR][1000 genomes]
rs72783159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785049	0.92[EUR][1000 genomes]
rs7393292	0.89[EUR][1000 genomes]
rs7897563	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7899437	0.92[EUR][1000 genomes]
rs7905794	0.81[EUR][1000 genomes]
rs7915922	0.90[EUR][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: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	chr10:50227800-50243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:50232200-50241800	Weak transcription	Fetal Kidney	kidney
7	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:50232600-50245000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:50232800-50242000	Weak transcription	Brain Substantia Nigra	brain
10	chr10:50232800-50247800	Weak transcription	Right Atrium	heart
11	chr10:50232800-50255400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:50233400-50241600	Weak transcription	Fetal Lung	lung
14	chr10:50233800-50247000	Weak transcription	Right Ventricle	heart
15	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:50233800-50261400	Weak transcription	Spleen	Spleen
17	chr10:50234000-50249000	Strong transcription	Fetal Muscle Leg	muscle
18	chr10:50234000-50254200	Weak transcription	Left Ventricle	heart
19	chr10:50234200-50246800	Weak transcription	Fetal Intestine Small	intestine
20	chr10:50235200-50243000	Weak transcription	Lung	lung
21	chr10:50237400-50244200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr10:50237600-50248800	Weak transcription	Liver	Liver
23	chr10:50238600-50241600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:50238800-50241600	Weak transcription	Aorta	Aorta
25	chr10:50240600-50244000	Weak transcription	Adipose Nuclei	Adipose
26	chr10:50240600-50244800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:50240600-50246600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr10:50240600-50247200	Weak transcription	HSMMtube	muscle
29	chr10:50240600-50247400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:50240800-50243000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:50240800-50243000	Weak transcription	Fetal Stomach	stomach
32	chr10:50240800-50243000	Weak transcription	Ovary	ovary
33	chr10:50240800-50246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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