Variant report

Variant	rs1419054
Chromosome Location	chr6:107084941-107084942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1037955	0.87[GIH][hapmap]
rs11968064	1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs12523774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12526141	1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap]
rs1676016	0.87[GIH][hapmap]
rs17052215	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17067368	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs2054366	0.87[GIH][hapmap]
rs2066202	0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap]
rs2126395	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2219667	0.88[JPT][hapmap]
rs2297971	0.87[GIH][hapmap]
rs2615207	0.87[GIH][hapmap]
rs3747790	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes]
rs4523123	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs4946764	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs6903818	0.82[AFR][1000 genomes]
rs7738230	1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7741101	0.82[TSI][hapmap]
rs8013	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs9320182	0.87[GIH][hapmap];0.81[TSI][hapmap]
rs9320183	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs9480684	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs9480686	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs9480687	0.82[AMR][1000 genomes]
rs9480689	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs9486400	0.87[GIH][hapmap]
rs9486404	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs9486406	0.82[AMR][1000 genomes]
rs9486410	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs9486411	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs9486414	0.96[GIH][hapmap];0.82[TSI][hapmap]
rs9486415	0.87[GIH][hapmap];0.82[TSI][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	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1419054	QRSL1	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078000-107090000	Weak transcription	Aorta	Aorta
2	chr6:107078400-107085000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:107078400-107090400	Weak transcription	HSMMtube	muscle
4	chr6:107078600-107085000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:107078600-107085000	Weak transcription	Liver	Liver
6	chr6:107078600-107085000	Weak transcription	Thymus	Thymus
7	chr6:107078600-107085200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:107078600-107085400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:107078600-107086000	Weak transcription	Primary T cells from cord blood	blood
10	chr6:107078600-107086400	Weak transcription	Psoas Muscle	Psoas
11	chr6:107078600-107086600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:107078600-107086600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr6:107078600-107087400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:107078600-107087800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:107078600-107088000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:107078600-107088000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:107078600-107088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:107078600-107089000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:107078600-107089000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:107078600-107089400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:107078600-107089600	Weak transcription	Fetal Intestine Small	intestine
22	chr6:107078600-107089800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:107078600-107090000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:107078600-107090000	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:107078600-107090000	Weak transcription	Fetal Stomach	stomach
26	chr6:107078600-107090000	Weak transcription	Right Ventricle	heart
27	chr6:107078600-107090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:107078600-107090200	Weak transcription	Fetal Intestine Large	intestine
29	chr6:107078600-107090200	Weak transcription	Fetal Lung	lung
30	chr6:107078600-107090200	Weak transcription	Ovary	ovary
31	chr6:107078600-107090400	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:107078600-107090400	Weak transcription	Esophagus	oesophagus
33	chr6:107078600-107090400	Weak transcription	Gastric	stomach
34	chr6:107078600-107090400	Weak transcription	HSMM	muscle
35	chr6:107078600-107090600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:107078600-107090600	Weak transcription	Fetal Brain Female	brain
37	chr6:107078600-107092000	Weak transcription	Brain Germinal Matrix	brain
38	chr6:107078600-107092600	Weak transcription	Brain Anterior Caudate	brain
39	chr6:107078600-107093000	Weak transcription	Colonic Mucosa	Colon
40	chr6:107078600-107100200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:107078600-107100400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:107078600-107103800	Weak transcription	Fetal Brain Male	brain
43	chr6:107078600-107104200	Weak transcription	Brain Angular Gyrus	brain
44	chr6:107078600-107106200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:107078600-107106600	Weak transcription	NH-A	brain
46	chr6:107078600-107110200	Weak transcription	NHLF	lung
47	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
48	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
50	chr6:107078800-107085000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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