Variant report

Variant	rs12216505
Chromosome Location	chr6:107092785-107092786
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1026619	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10457147	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11153019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759803	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968474	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968502	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12212676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13202677	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207581	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1986498	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1993774	0.80[AFR][1000 genomes]
rs2054365	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2169463	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3101493	0.96[CEU][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3101496	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3101499	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3104038	0.85[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3104046	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121434	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121435	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121436	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121437	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121438	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121439	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3121440	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3121441	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121442	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121444	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121445	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3121448	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3121449	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3127658	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3804345	0.81[AFR][1000 genomes]
rs4640924	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56404130	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6930885	0.81[AFR][1000 genomes]
rs7750365	0.85[CEU][hapmap]
rs7756087	0.86[JPT][hapmap]
rs9384626	0.87[AFR][1000 genomes]
rs9400037	0.81[AFR][1000 genomes]
rs9486434	0.81[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:15)

SNP	Gene	Cis/trans	Tissue	Source
rs12216505	QRSL1	cis	multi-tissue	Pritchard
rs12216505	QRSL1	cis	Esophagus Mucosa	GTEx
rs12216505	QRSL1	cis	Heart Left Ventricle	GTEx
rs12216505	QRSL1	Cis_1M	lymphoblastoid	RTeQTL
rs12216505	QRSL1	cis	Skin Sun Exposed Lower leg	GTEx
rs12216505	QRSL1	cis	Esophagus Muscularis	GTEx
rs12216505	QRSL1	cis	normal skin	skin_eQTL
rs12216505	QRSL1	cis	lesional skin	skin_eQTL
rs12216505	QRSL1	cis	lung	GTEx
rs12216505	QRSL1	cis	Thyroid	GTEx
rs12216505	QRSL1	cis	Muscle Skeletal	GTEx
rs12216505	QRSL1	cis	Nerve Tibial	GTEx
rs12216505	QRSL1	cis	Artery Tibial	GTEx
rs12216505	QRSL1	cis	Adipose Subcutaneous	GTEx
rs12216505	QRSL1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078600-107093000	Weak transcription	Colonic Mucosa	Colon
2	chr6:107078600-107100200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:107078600-107100400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:107078600-107103800	Weak transcription	Fetal Brain Male	brain
5	chr6:107078600-107104200	Weak transcription	Brain Angular Gyrus	brain
6	chr6:107078600-107106200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:107078600-107106600	Weak transcription	NH-A	brain
8	chr6:107078600-107110200	Weak transcription	NHLF	lung
9	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
10	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
12	chr6:107078800-107093600	Weak transcription	NHEK	skin
13	chr6:107079400-107092800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:107081000-107092800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:107085000-107112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:107085400-107100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:107085400-107114000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:107086000-107094200	Strong transcription	Primary T cells from cord blood	blood
19	chr6:107086400-107104400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:107086600-107094400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:107086600-107098200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:107087200-107112600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:107087400-107094200	Weak transcription	A549	lung
24	chr6:107087400-107106200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:107087600-107095600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:107087800-107094400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:107087800-107094400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr6:107087800-107094600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr6:107087800-107094600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr6:107087800-107094800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:107087800-107095400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:107087800-107104000	Strong transcription	Dnd41	blood
33	chr6:107088000-107094600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:107088000-107095400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:107088000-107104000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:107088000-107106000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:107088000-107108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:107088200-107094600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:107088200-107095000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:107088200-107106200	Weak transcription	Small Intestine	intestine
41	chr6:107088400-107094600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr6:107088400-107095600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:107088800-107094400	Strong transcription	Primary B cells from cord blood	blood
44	chr6:107088800-107094400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr6:107089000-107092800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:107089000-107093000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:107089000-107093000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:107089000-107095600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:107089000-107104600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr6:107089000-107105800	Strong transcription	Monocytes-CD14+_RO01746	blood

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