Variant report

Variant	rs4240499
Chromosome Location	chr10:50310251-50310252
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	chr10:50308627..50310723-chr10:50311028..50313744,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11100988	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11100989	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11100990	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12245255	0.84[ASN][1000 genomes]
rs12246766	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12255055	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12267388	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12776553	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13088	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1986725	0.83[EUR][1000 genomes]
rs2804939	0.81[EUR][1000 genomes]
rs2804940	0.82[EUR][1000 genomes]
rs35666409	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36015645	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4073711	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4128908	0.81[AMR][1000 genomes]
rs4240500	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4265516	0.88[ASN][1000 genomes]
rs4344406	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4350286	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4403731	0.80[AMR][1000 genomes]
rs4412679	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4417190	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4421675	0.88[ASN][1000 genomes]
rs4497320	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4509682	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4532948	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4558089	0.88[ASN][1000 genomes]
rs4558091	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4559606	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4620641	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4838365	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4838367	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4838446	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4838447	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7069758	0.84[ASN][1000 genomes]
rs7072243	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7079570	0.88[ASN][1000 genomes]
rs7093398	0.80[AMR][1000 genomes]
rs7097933	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:50292200-50311800	Weak transcription	Aorta	Aorta
3	chr10:50293400-50312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:50295800-50311600	Weak transcription	K562	blood
5	chr10:50298600-50310400	Weak transcription	Fetal Intestine Large	intestine
6	chr10:50298600-50314400	Weak transcription	NHDF-Ad	bronchial
7	chr10:50299000-50312600	Weak transcription	Fetal Lung	lung
8	chr10:50299600-50312200	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:50299600-50314400	Weak transcription	HSMMtube	muscle
10	chr10:50300800-50312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:50300800-50314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:50303200-50310600	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:50303200-50314600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:50303400-50313600	Weak transcription	Brain Substantia Nigra	brain
15	chr10:50303400-50314400	Weak transcription	Brain Anterior Caudate	brain
16	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:50303600-50314400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:50303800-50314600	Weak transcription	Esophagus	oesophagus
19	chr10:50304000-50314400	Weak transcription	Brain Angular Gyrus	brain
20	chr10:50304600-50314400	Weak transcription	Liver	Liver
21	chr10:50304800-50317600	Weak transcription	Fetal Heart	heart
22	chr10:50305400-50314400	Weak transcription	NHLF	lung
23	chr10:50305800-50313600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:50306400-50311600	Weak transcription	Right Atrium	heart
25	chr10:50306400-50314600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:50307000-50312000	Weak transcription	Left Ventricle	heart
27	chr10:50307000-50312400	Weak transcription	Right Ventricle	heart
28	chr10:50307200-50311800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr10:50307400-50311600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:50307400-50311600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:50307400-50312400	Weak transcription	Ovary	ovary
32	chr10:50307400-50314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:50307400-50314400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:50307800-50310400	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:50310000-50312600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:50310200-50312400	Strong transcription	Fetal Stomach	stomach
37	chr10:50310200-50314400	Weak transcription	Adipose Nuclei	Adipose

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