Variant report

Variant	rs7906722
Chromosome Location	chr10:50271235-50271236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50270742..50273259-chr10:50275431..50277377,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12240534	0.92[CEU][hapmap]
rs12244666	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs12244748	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs12253426	0.81[CEU][hapmap];0.93[CHB][hapmap]
rs12255090	0.87[CHB][hapmap]
rs12256777	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs12257242	0.88[CHB][hapmap]
rs12261297	0.88[CHB][hapmap]
rs12269023	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12769361	0.88[CHB][hapmap]
rs12774293	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs12776460	0.94[CHB][hapmap]
rs17011757	0.94[CHB][hapmap]
rs17700872	0.88[CHB][hapmap]
rs2137911	0.82[AFR][1000 genomes]
rs2137912	0.80[CEU][hapmap];0.94[CHB][hapmap];0.81[AFR][1000 genomes]
rs2137914	0.88[CHB][hapmap]
rs2246463	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2246673	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[AFR][1000 genomes]
rs2246937	0.88[CHB][hapmap]
rs2250146	0.86[ASN][1000 genomes]
rs2250257	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2250349	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2250602	0.82[ASN][1000 genomes]
rs2264846	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2264847	0.81[CEU][hapmap];0.88[CHB][hapmap];0.82[AFR][1000 genomes]
rs2804934	0.88[CEU][hapmap]
rs2943253	0.84[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2943254	0.86[ASN][1000 genomes]
rs3924984	0.88[CHB][hapmap]
rs3924985	0.88[CHB][hapmap]
rs4128908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129035	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4240498	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs4317903	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4317904	0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs4400713	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs4402204	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs4403731	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4421674	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs4468264	0.88[CHB][hapmap]
rs4481947	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4497319	0.94[CHB][hapmap]
rs4508127	0.88[CHB][hapmap]
rs4550151	0.94[CHB][hapmap]
rs4838447	0.83[CEU][hapmap]
rs6537493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537494	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs6537497	0.81[JPT][hapmap]
rs7074818	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs7084112	0.94[CHB][hapmap]
rs7085823	0.80[CEU][hapmap];0.94[CHB][hapmap]
rs7093398	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7097933	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7098134	0.88[CHB][hapmap]
rs7897289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904272	0.88[CHB][hapmap]
rs7916825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9804403	0.84[CEU][hapmap];0.88[CHB][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7906722	C10orf53,CHAT	cis	inferior olivary nucleus	BrainEAC

Chromatin state (count:34 , 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	chr10:50267600-50271600	Weak transcription	Ovary	ovary
19	chr10:50267600-50276400	Weak transcription	Left Ventricle	heart
20	chr10:50267800-50276400	Weak transcription	Right Atrium	heart
21	chr10:50270200-50271400	ZNF genes & repeats	Fetal Lung	lung
22	chr10:50270600-50271600	Weak transcription	Adipose Nuclei	Adipose
23	chr10:50270600-50272600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:50270600-50284200	Weak transcription	Fetal Intestine Large	intestine
25	chr10:50270800-50271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:50270800-50273600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr10:50270800-50279600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:50271000-50271400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:50271000-50271400	ZNF genes & repeats	Fetal Stomach	stomach
30	chr10:50271000-50272600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:50271000-50272600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:50271200-50271400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:50271200-50273400	Strong transcription	Fetal Muscle Leg	muscle
34	chr10:50271200-50279400	Weak transcription	Liver	Liver

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