Variant report

Variant	rs12244748
Chromosome Location	chr10:50270463-50270464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs12244666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12253426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12255090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12256777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12257242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12261297	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12269023	0.94[CHB][hapmap]
rs12765281	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12769361	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12774293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12776460	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011744	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17011746	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17011757	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17700872	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17701186	0.82[EUR][1000 genomes]
rs17773851	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2003044	0.91[CEU][hapmap]
rs2137911	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2137912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2137914	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2246463	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs2246673	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2246937	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2264846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2264847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2725179	0.91[CEU][hapmap]
rs2725181	0.91[CEU][hapmap]
rs2725184	0.80[EUR][1000 genomes]
rs2725185	0.80[EUR][1000 genomes]
rs2804937	0.91[CEU][hapmap]
rs34062275	0.82[EUR][1000 genomes]
rs34110351	0.82[EUR][1000 genomes]
rs34289781	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34364659	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34467986	0.82[EUR][1000 genomes]
rs34574986	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34640094	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34878380	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35341824	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35462783	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35905744	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35922675	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3924984	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs3924985	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs4073138	0.80[EUR][1000 genomes]
rs4073139	0.82[EUR][1000 genomes]
rs4128908	0.83[CEU][hapmap];0.88[CHB][hapmap]
rs4240498	0.94[CHB][hapmap]
rs4364979	0.83[EUR][1000 genomes]
rs4400713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4402204	1.00[CEU][hapmap];1.00[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]
rs4403731	0.89[CHB][hapmap]
rs4421674	0.94[CHB][hapmap]
rs4445564	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4468264	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4481947	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4497319	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4508127	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4550151	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4600129	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4644582	0.83[EUR][1000 genomes]
rs55947405	0.80[EUR][1000 genomes]
rs56291725	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58154726	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58893558	0.81[EUR][1000 genomes]
rs6537493	0.84[CEU][hapmap];0.89[CHB][hapmap]
rs6537494	0.94[CHB][hapmap]
rs67269950	0.82[EUR][1000 genomes]
rs68065270	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7070387	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7073208	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074818	0.94[CHB][hapmap]
rs7081243	0.82[EUR][1000 genomes]
rs7084112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7085823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7088718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7097933	0.94[CHB][hapmap]
rs7098134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7100655	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs72785015	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7896344	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7897289	0.81[CEU][hapmap];0.89[CHB][hapmap]
rs7904272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7906722	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs7907959	1.00[ASN][1000 genomes]
rs7916825	0.81[CEU][hapmap];0.89[CHB][hapmap]
rs9804403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:50243800-50278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:50247000-50282600	Weak transcription	Brain Angular Gyrus	brain
5	chr10:50247800-50271600	Weak transcription	Fetal Intestine Small	intestine
6	chr10:50254400-50278800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:50262800-50271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:50263400-50272200	Weak transcription	Fetal Brain Male	brain
9	chr10:50264800-50271800	Weak transcription	NHDF-Ad	bronchial
10	chr10:50266000-50271800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:50266400-50271600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:50266600-50289400	Weak transcription	Colonic Mucosa	Colon
13	chr10:50266800-50278600	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:50267000-50271600	Weak transcription	HSMMtube	muscle
15	chr10:50267200-50288400	Weak transcription	NHLF	lung
16	chr10:50267400-50271600	Weak transcription	Aorta	Aorta
17	chr10:50267400-50271800	Weak transcription	Right Ventricle	heart
18	chr10:50267600-50271000	Weak transcription	Fetal Stomach	stomach
19	chr10:50267600-50271200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:50267600-50271600	Weak transcription	Ovary	ovary
21	chr10:50267600-50276400	Weak transcription	Left Ventricle	heart
22	chr10:50267800-50276400	Weak transcription	Right Atrium	heart
23	chr10:50268000-50271000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:50270000-50271000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:50270200-50270600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:50270200-50270800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr10:50270200-50270800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr10:50270200-50271400	ZNF genes & repeats	Fetal Lung	lung
29	chr10:50270400-50271000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:50270400-50271200	ZNF genes & repeats	Fetal Muscle Leg	muscle

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