Variant report

Variant	rs350105
Chromosome Location	chr5:68493972-68493973
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68487593..68492001-chr5:68493438..68496143,4	K562	blood:
2	chr5:68483247..68487010-chr5:68493814..68496489,4	K562	blood:
3	chr5:68483247..68486892-chr5:68492488..68496489,4	K562	blood:

Variant related genes	Relation type
ENSG00000153044	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs100192	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11742461	0.83[ASN][1000 genomes]
rs11744596	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11745578	0.83[ASN][1000 genomes]
rs12659146	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13175606	0.82[ASN][1000 genomes]
rs151589	0.82[ASN][1000 genomes]
rs163442	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs163443	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs163444	0.82[ASN][1000 genomes]
rs164386	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs164388	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs164389	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs164390	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs164715	0.82[ASN][1000 genomes]
rs1683831	0.89[ASN][1000 genomes]
rs171212	0.80[ASN][1000 genomes]
rs184747	0.82[ASN][1000 genomes]
rs2002825	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242351	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs239591	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2637128	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2637129	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28506805	0.89[ASN][1000 genomes]
rs28576332	0.83[ASN][1000 genomes]
rs28693971	0.83[ASN][1000 genomes]
rs2913707	0.80[ASN][1000 genomes]
rs2930944	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2930946	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932770	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932771	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932777	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932778	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2932780	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2932783	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972358	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972373	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972374	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2972390	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34845020	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350093	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs350094	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs350095	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350099	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs350107	0.82[ASN][1000 genomes]
rs350109	0.80[ASN][1000 genomes]
rs350115	0.82[ASN][1000 genomes]
rs350119	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs350120	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs350122	0.80[ASN][1000 genomes]
rs350124	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs350125	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs352626	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs353656	0.81[ASN][1000 genomes]
rs375285	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs376768	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs379434	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs386640	0.82[ASN][1000 genomes]
rs389686	0.89[ASN][1000 genomes]
rs389938	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs390169	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs395122	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs419902	0.82[ASN][1000 genomes]
rs437665	0.89[ASN][1000 genomes]
rs444305	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs476125	0.89[ASN][1000 genomes]
rs4976159	0.85[ASN][1000 genomes]
rs4976188	0.85[ASN][1000 genomes]
rs648489	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6862253	0.83[ASN][1000 genomes]
rs693725	0.82[ASN][1000 genomes]
rs7719040	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs875459	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3445512	chr5:68472245-68495835	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs350105	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68486000-68498200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:68486000-68498600	Weak transcription	Left Ventricle	heart
3	chr5:68486000-68505800	Weak transcription	Ovary	ovary
4	chr5:68486000-68513600	Weak transcription	Gastric	stomach
5	chr5:68486200-68494200	Weak transcription	Fetal Lung	lung
6	chr5:68486200-68494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:68486200-68494600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:68486200-68494800	Weak transcription	Brain Substantia Nigra	brain
9	chr5:68486200-68496200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:68486200-68496200	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:68486200-68497000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:68486200-68497600	Weak transcription	Fetal Heart	heart
13	chr5:68486200-68497600	Weak transcription	Pancreas	Pancrea
14	chr5:68486200-68498200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:68486200-68498400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:68486200-68499200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:68486200-68499400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:68486200-68500200	Weak transcription	Thymus	Thymus
19	chr5:68486200-68502000	Weak transcription	Placenta	Placenta
20	chr5:68486200-68502200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:68486200-68502600	Weak transcription	Small Intestine	intestine
22	chr5:68486200-68505200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:68486200-68509400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:68486200-68509400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:68486200-68509400	Weak transcription	HSMM	muscle
26	chr5:68486200-68512800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr5:68486400-68494400	Weak transcription	HMEC	breast
28	chr5:68486400-68494400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:68486400-68494600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:68486400-68494800	Weak transcription	Adipose Nuclei	Adipose
31	chr5:68486400-68496400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:68486400-68496800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:68486400-68502400	Weak transcription	NH-A	brain
34	chr5:68486400-68502600	Weak transcription	Fetal Kidney	kidney
35	chr5:68486400-68502600	Weak transcription	HUVEC	blood vessel
36	chr5:68486400-68512400	Weak transcription	Primary B cells from cord blood	blood
37	chr5:68486400-68512600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:68486400-68513000	Weak transcription	Brain Germinal Matrix	brain
39	chr5:68486400-68513000	Weak transcription	Fetal Intestine Large	intestine
40	chr5:68486400-68513000	Weak transcription	Osteobl	bone
41	chr5:68486600-68497200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:68486600-68502600	Weak transcription	NHLF	lung
43	chr5:68486600-68509200	Weak transcription	NHDF-Ad	bronchial
44	chr5:68487400-68508200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:68487400-68511200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:68487600-68495400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:68487600-68498000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:68487600-68500400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:68487600-68500400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:68487600-68500600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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