Variant report

Variant	rs3121449
Chromosome Location	chr6:107107111-107107112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:107106063..107107710-chr6:107116693..107119239,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1026619	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10457147	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11153019	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11752776	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11759803	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11968474	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11968502	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12212676	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12214412	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12216505	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13200233	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13202677	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13207581	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1986498	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2169463	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3101493	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3101496	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101499	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3104038	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3104046	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121434	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121435	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121436	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121437	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121438	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121439	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3121440	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3121441	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121442	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3121444	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3121445	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3121448	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3127658	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4640924	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56404130	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv516902	chr6:107104374-107115394	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs3121449	QRSL1	cis	Nerve Tibial	GTEx
rs3121449	QRSL1	cis	Skin Sun Exposed Lower leg	GTEx
rs3121449	QRSL1	cis	Muscle Skeletal	GTEx
rs3121449	QRSL1	cis	Heart Left Ventricle	GTEx
rs3121449	QRSL1	cis	Esophagus Muscularis	GTEx
rs3121449	QRSL1	cis	Artery Tibial	GTEx
rs3121449	QRSL1	Cis_1M	lymphoblastoid	RTeQTL
rs3121449	QRSL1	cis	Adipose Subcutaneous	GTEx
rs3121449	QRSL1	cis	Thyroid	GTEx
rs3121449	QRSL1	cis	lung	GTEx
rs3121449	QRSL1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078600-107110200	Weak transcription	NHLF	lung
2	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
3	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
5	chr6:107085000-107112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:107085400-107114000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:107087200-107112600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:107088000-107108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:107090000-107109000	Strong transcription	Liver	Liver
10	chr6:107090800-107108000	Weak transcription	Pancreas	Pancrea
11	chr6:107091400-107111600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:107092200-107107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:107092800-107116400	Weak transcription	Brain Substantia Nigra	brain
14	chr6:107096400-107109000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr6:107099200-107110200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:107100000-107108800	Strong transcription	Left Ventricle	heart
17	chr6:107100200-107108200	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:107100200-107108400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:107100200-107109200	Strong transcription	Thymus	Thymus
20	chr6:107100200-107111800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:107100600-107109000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr6:107100800-107107400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:107100800-107108000	Strong transcription	Fetal Kidney	kidney
24	chr6:107101400-107111000	Weak transcription	HUVEC	blood vessel
25	chr6:107101600-107111200	Weak transcription	Right Ventricle	heart
26	chr6:107103000-107109600	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:107103400-107108000	Strong transcription	HSMM	muscle
28	chr6:107103600-107107600	Weak transcription	Aorta	Aorta
29	chr6:107104000-107107800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:107104000-107108800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:107104200-107113000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:107104400-107109000	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr6:107104600-107107400	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr6:107104600-107107600	Weak transcription	Fetal Brain Male	brain
35	chr6:107104600-107108800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr6:107104800-107107200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:107104800-107107800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:107104800-107108400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr6:107104800-107108600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:107104800-107110800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:107104800-107115000	Weak transcription	Colonic Mucosa	Colon
42	chr6:107104800-107116200	Weak transcription	Brain Angular Gyrus	brain
43	chr6:107104800-107116400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:107105000-107107200	Weak transcription	Lung	lung
45	chr6:107105000-107107400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:107105000-107107800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:107105000-107107800	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:107105000-107110600	Weak transcription	Spleen	Spleen
49	chr6:107105000-107118000	Weak transcription	Esophagus	oesophagus
50	chr6:107105000-107118000	Weak transcription	Gastric	stomach

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