Variant report

Variant	rs7750365
Chromosome Location	chr6:107089289-107089290
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:107076542..107079285-chr6:107086696..107089317,2	K562	blood:

Variant related genes	Relation type
ENSG00000130348	Chromatin interaction
ENSG00000130347	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1026619	0.85[CEU][hapmap];0.92[GIH][hapmap]
rs11153019	0.85[CEU][hapmap];0.92[GIH][hapmap]
rs11153020	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes]
rs11752776	0.85[CEU][hapmap]
rs12199993	0.81[AFR][1000 genomes]
rs12212676	0.85[CEU][hapmap]
rs12214412	0.85[CEU][hapmap]
rs12216505	0.85[CEU][hapmap]
rs13200233	0.85[CEU][hapmap]
rs2306098	0.84[AFR][1000 genomes]
rs2353036	0.81[AFR][1000 genomes]
rs3101493	0.81[CEU][hapmap];0.90[GIH][hapmap]
rs3121448	0.85[CEU][hapmap]
rs727104	0.81[AFR][1000 genomes]
rs9400035	0.84[AFR][1000 genomes]
rs9400038	0.84[AFR][1000 genomes]
rs9400039	0.84[AFR][1000 genomes]
rs9400040	0.83[ASW][hapmap];0.84[AFR][1000 genomes]
rs9400041	0.84[AFR][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	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:19)

SNP	Gene	Cis/trans	Tissue	Source
rs7750365	QRSL1	cis	Nerve Tibial	GTEx
rs7750365	QRSL1	cis	Lymphoblastoid	GTEx
rs7750365	QRSL1	cis	Artery Tibial	GTEx
rs7750365	QRSL1	cis	lung	GTEx
rs7750365	QRSL1	cis	Muscle Skeletal	GTEx
rs7750365	QRSL1	cis	lymphoblastoid	seeQTL
rs7750365	QRSL1	cis	cerebellum	SCAN
rs7750365	QRSL1	cis	multi-tissue	Pritchard
rs7750365	QRSL1	cis	Adipose Subcutaneous	GTEx
rs7750365	RTN4IP1	cis	multi-tissue	Pritchard
rs7750365	RTN4IP1	cis	Muscle Skeletal	GTEx
rs7750365	QRSL1	cis	Esophagus Muscularis	GTEx
rs7750365	QRSL1	Cis_1M	lymphoblastoid	RTeQTL
rs7750365	QRSL1	cis	parietal	SCAN
rs7750365	QRSL1	cis	Thyroid	GTEx
rs7750365	QRSL1	cis	Skin Sun Exposed Lower leg	GTEx
rs7750365	QRSL1	cis	lesional skin	skin_eQTL
rs7750365	QRSL1	cis	uninvolved skin	skin_eQTL
rs7750365	QRSL1	cis	normal skin	skin_eQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078000-107090000	Weak transcription	Aorta	Aorta
2	chr6:107078400-107090400	Weak transcription	HSMMtube	muscle
3	chr6:107078600-107089400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:107078600-107089600	Weak transcription	Fetal Intestine Small	intestine
5	chr6:107078600-107089800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:107078600-107090000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:107078600-107090000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:107078600-107090000	Weak transcription	Fetal Stomach	stomach
9	chr6:107078600-107090000	Weak transcription	Right Ventricle	heart
10	chr6:107078600-107090200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:107078600-107090200	Weak transcription	Fetal Intestine Large	intestine
12	chr6:107078600-107090200	Weak transcription	Fetal Lung	lung
13	chr6:107078600-107090200	Weak transcription	Ovary	ovary
14	chr6:107078600-107090400	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:107078600-107090400	Weak transcription	Esophagus	oesophagus
16	chr6:107078600-107090400	Weak transcription	Gastric	stomach
17	chr6:107078600-107090400	Weak transcription	HSMM	muscle
18	chr6:107078600-107090600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:107078600-107090600	Weak transcription	Fetal Brain Female	brain
20	chr6:107078600-107092000	Weak transcription	Brain Germinal Matrix	brain
21	chr6:107078600-107092600	Weak transcription	Brain Anterior Caudate	brain
22	chr6:107078600-107093000	Weak transcription	Colonic Mucosa	Colon
23	chr6:107078600-107100200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:107078600-107100400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:107078600-107103800	Weak transcription	Fetal Brain Male	brain
26	chr6:107078600-107104200	Weak transcription	Brain Angular Gyrus	brain
27	chr6:107078600-107106200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:107078600-107106600	Weak transcription	NH-A	brain
29	chr6:107078600-107110200	Weak transcription	NHLF	lung
30	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
31	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
33	chr6:107078800-107089400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:107078800-107090200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:107078800-107090400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:107078800-107090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:107078800-107090600	Weak transcription	Hela-S3	cervix
38	chr6:107078800-107092000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:107078800-107093600	Weak transcription	NHEK	skin
40	chr6:107079400-107091000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:107079400-107092600	Weak transcription	HMEC	breast
42	chr6:107079400-107092800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:107079600-107090600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:107079600-107090800	Weak transcription	Osteobl	bone
45	chr6:107079600-107092400	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:107081000-107092800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:107082600-107091800	Weak transcription	Lung	lung
48	chr6:107085000-107091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:107085000-107112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:107085200-107090000	Weak transcription	Liver	Liver

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