Variant report

Variant	rs4488117
Chromosome Location	chr10:50309905-50309906
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: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10508910	0.85[CEU][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12245255	0.92[CHB][hapmap];0.96[CHD][hapmap]
rs12253763	0.82[MEX][hapmap]
rs12762834	0.85[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12762859	0.85[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12763447	0.85[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12772732	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12774117	0.85[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12776211	0.88[MEX][hapmap]
rs12777282	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13088	0.92[CHB][hapmap];0.89[CHD][hapmap]
rs17175928	0.85[CEU][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17782595	0.85[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17782649	0.85[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17782673	0.85[CEU][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17782691	0.85[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17782733	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2137914	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2246937	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2250146	0.88[MEX][hapmap]
rs2725181	0.86[ASW][hapmap]
rs2725194	0.82[YRI][hapmap]
rs2725200	0.88[MEX][hapmap]
rs2804930	0.88[MEX][hapmap]
rs2804931	0.83[MEX][hapmap]
rs2804932	1.00[ASW][hapmap];0.85[CEU][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2804941	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34056748	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34347666	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34373855	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34436721	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34712064	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34786393	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35007047	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35012082	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35086974	0.99[ASN][1000 genomes]
rs35285557	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35311796	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35496464	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35586957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35621290	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3924984	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs3924985	0.83[EUR][1000 genomes]
rs4012666	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4265516	0.92[CHB][hapmap];1.00[CHD][hapmap]
rs4293050	0.85[CEU][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4298825	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310535	0.85[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4342944	0.85[CEU][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4421675	0.90[CHB][hapmap]
rs4468264	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs4483510	0.82[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4495812	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4497319	0.85[CEU][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs4509682	0.92[CHB][hapmap]
rs4550151	0.85[CEU][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs4558089	0.92[CHB][hapmap];1.00[CHD][hapmap]
rs7069758	0.90[CHB][hapmap]
rs7079570	0.84[CHB][hapmap];1.00[CHD][hapmap]
rs7082096	0.88[MEX][hapmap]
rs7084112	0.85[CEU][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs7098134	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs71500261	0.85[AMR][1000 genomes]
rs71500264	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71500265	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7904272	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7907959	0.85[EUR][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	chr10:50307400-50310200	Weak transcription	Fetal Stomach	stomach
30	chr10:50307400-50311600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:50307400-50311600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:50307400-50312400	Weak transcription	Ovary	ovary
33	chr10:50307400-50314200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:50307400-50314400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr10:50307800-50310400	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:50309600-50310000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr10:50309600-50310200	Enhancers	Adipose Nuclei	Adipose

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