Variant report

Variant	rs3121447
Chromosome Location	chr6:107116437-107116438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11153020	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs12199993	0.88[ASW][hapmap];0.84[CEU][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs1419055	0.93[GIH][hapmap]
rs1811546	0.81[CEU][hapmap];0.84[AMR][1000 genomes]
rs1993774	0.84[AMR][1000 genomes]
rs2015205	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs2306098	0.86[AFR][1000 genomes]
rs2353036	0.87[AFR][1000 genomes]
rs3104039	0.84[AMR][1000 genomes]
rs3804345	0.81[CEU][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes]
rs6568448	0.80[CEU][hapmap]
rs6930885	0.80[CEU][hapmap];0.84[AMR][1000 genomes]
rs727104	0.85[AFR][1000 genomes]
rs9384626	0.81[CEU][hapmap];0.84[AMR][1000 genomes]
rs9400035	0.86[AFR][1000 genomes]
rs9400036	0.84[AMR][1000 genomes]
rs9400037	0.84[AMR][1000 genomes]
rs9400038	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs9400039	0.86[AFR][1000 genomes]
rs9400040	0.94[ASW][hapmap];0.93[LWK][hapmap];0.83[MEX][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs9400041	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs9486434	0.81[CEU][hapmap];0.84[AMR][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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs3121447	QRSL1	Cis_1M	lymphoblastoid	RTeQTL
rs3121447	QRSL1	cis	lymphoblastoid	seeQTL
rs3121447	QRSL1	cis	normal skin	skin_eQTL
rs3121447	CIRBP	trans	cerebellum	SCAN
rs3121447	QRSL1	cis	Skin Sun Exposed Lower leg	GTEx
rs3121447	QRSL1	cis	Lymphoblastoid	GTEx
rs3121447	QRSL1	cis	cerebellum	SCAN
rs3121447	QRSL1	cis	Thyroid	GTEx
rs3121447	QRSL1	cis	multi-tissue	Pritchard
rs3121447	QRSL1	cis	parietal	SCAN
rs3121447	QRSL1	cis	Muscle Skeletal	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
2	chr6:107105000-107118000	Weak transcription	Esophagus	oesophagus
3	chr6:107105000-107118000	Weak transcription	Gastric	stomach
4	chr6:107106600-107126200	Weak transcription	Psoas Muscle	Psoas
5	chr6:107107000-107118000	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:107108000-107117400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:107108400-107118000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:107109000-107116800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:107109400-107119200	Weak transcription	Lung	lung
10	chr6:107110000-107118800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:107111600-107118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:107111800-107116600	Weak transcription	Brain Germinal Matrix	brain
13	chr6:107111800-107116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:107111800-107122200	Weak transcription	A549	lung
15	chr6:107112000-107118000	Weak transcription	Right Ventricle	heart
16	chr6:107112000-107118200	Weak transcription	HSMMtube	muscle
17	chr6:107112000-107119800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:107112000-107121800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:107112400-107117000	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:107112400-107117000	Weak transcription	Fetal Heart	heart
21	chr6:107112600-107116600	Weak transcription	Fetal Kidney	kidney
22	chr6:107112800-107124200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:107113800-107116800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:107113800-107117000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:107113800-107117400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:107113800-107118000	Weak transcription	HSMM	muscle
27	chr6:107113800-107118200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:107113800-107122200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:107114000-107116800	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:107114000-107125400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:107114200-107118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:107114800-107117800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:107114800-107118000	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:107114800-107120200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:107115000-107116600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:107115000-107116600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:107115000-107116600	Weak transcription	Fetal Brain Female	brain
38	chr6:107115000-107116600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:107115000-107116800	Enhancers	Primary B cells from cord blood	blood
40	chr6:107115000-107119400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:107115200-107116800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:107115200-107116800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:107115200-107116800	Weak transcription	Dnd41	blood
44	chr6:107115200-107116800	Weak transcription	NH-A	brain
45	chr6:107115200-107117000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:107115200-107117000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:107115200-107117000	Weak transcription	Liver	Liver
48	chr6:107115200-107119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:107115200-107119600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:107115200-107119600	Weak transcription	Left Ventricle	heart

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