Variant report

Variant	rs1026619
Chromosome Location	chr6:107114361-107114362
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	chr6:107113408..107116233-chr6:107118216..107122010,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10457147	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11153019	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11752776	1.00[CEU][hapmap];0.85[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11759803	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11968474	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11968502	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12212676	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12214412	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]
rs12216505	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]
rs13200233	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13202677	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13207581	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1986498	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2054365	0.83[CHD][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap]
rs2169463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101493	0.91[ASW][hapmap];0.96[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3101496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3101499	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3104038	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3104046	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121434	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121435	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121436	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121437	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121438	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121439	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121440	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121441	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121442	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121444	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121445	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3121448	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3121449	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3127658	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4640924	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56404130	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7750365	0.85[CEU][hapmap];0.92[GIH][hapmap]
rs7756087	0.83[CHD][hapmap]

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:21)

SNP	Gene	Cis/trans	Tissue	Source
rs1026619	QRSL1	cis	Adipose Subcutaneous	GTEx
rs1026619	QRSL1	cis	multi-tissue	Pritchard
rs1026619	QRSL1	cis	Skin Sun Exposed Lower leg	GTEx
rs1026619	QRSL1	cis	Liver	GTEx
rs1026619	QRSL1	cis	Artery Tibial	GTEx
rs1026619	QRSL1	cis	normal skin	skin_eQTL
rs1026619	QRSL1	cis	lymphoblastoid	seeQTL
rs1026619	QRSL1	cis	Thyroid	GTEx
rs1026619	QRSL1	cis	Heart Left Ventricle	GTEx
rs1026619	QRSL1	cis	parietal	SCAN
rs1026619	QRSL1	cis	Nerve Tibial	GTEx
rs1026619	QRSL1	cis	Esophagus Mucosa	GTEx
rs1026619	QRSL1	cis	Muscle Skeletal	GTEx
rs1026619	QRSL1	cis	Lymphoblastoid	GTEx
rs1026619	RTN4IP1	cis	multi-tissue	Pritchard
rs1026619	QRSL1	cis	lung	GTEx
rs1026619	CIRBP	trans	cerebellum	SCAN
rs1026619	QRSL1	cis	uninvolved skin	skin_eQTL
rs1026619	QRSL1	cis	lesional skin	skin_eQTL
rs1026619	QRSL1	cis	Esophagus Muscularis	GTEx
rs1026619	QRSL1	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
3	chr6:107092800-107116400	Weak transcription	Brain Substantia Nigra	brain
4	chr6:107104800-107115000	Weak transcription	Colonic Mucosa	Colon
5	chr6:107104800-107116200	Weak transcription	Brain Angular Gyrus	brain
6	chr6:107104800-107116400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:107105000-107118000	Weak transcription	Esophagus	oesophagus
8	chr6:107105000-107118000	Weak transcription	Gastric	stomach
9	chr6:107106600-107126200	Weak transcription	Psoas Muscle	Psoas
10	chr6:107107000-107118000	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:107107200-107114600	Weak transcription	HMEC	breast
12	chr6:107107200-107115000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:107107400-107115400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:107107400-107115600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:107107800-107116400	Weak transcription	NHDF-Ad	bronchial
16	chr6:107108000-107117400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:107108200-107116400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:107108400-107116200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:107108400-107118000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:107108800-107115200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:107108800-107115200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:107108800-107115200	Weak transcription	Pancreas	Pancrea
23	chr6:107109000-107116800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:107109400-107119200	Weak transcription	Lung	lung
25	chr6:107109800-107114800	Strong transcription	Fetal Intestine Large	intestine
26	chr6:107110000-107116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:107110000-107118800	Weak transcription	Fetal Intestine Small	intestine
28	chr6:107110400-107114800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:107110400-107114800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:107110400-107115000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:107110400-107115200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:107110400-107115200	Strong transcription	Dnd41	blood
33	chr6:107110400-107115400	Strong transcription	Primary T cells from cord blood	blood
34	chr6:107110400-107115600	Strong transcription	Fetal Thymus	thymus
35	chr6:107110400-107115800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:107110800-107115200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:107110800-107115200	Strong transcription	Liver	Liver
38	chr6:107111000-107115600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:107111200-107115400	Weak transcription	Osteobl	bone
40	chr6:107111600-107114600	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:107111600-107114800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:107111600-107115200	Weak transcription	NHEK	skin
43	chr6:107111600-107115400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:107111600-107115600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:107111600-107115600	Weak transcription	Brain Anterior Caudate	brain
46	chr6:107111600-107116200	Weak transcription	Aorta	Aorta
47	chr6:107111600-107116200	Weak transcription	Thymus	Thymus
48	chr6:107111600-107116400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:107111600-107116400	Weak transcription	Small Intestine	intestine
50	chr6:107111600-107118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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