Variant report

Variant	rs6915247
Chromosome Location	chr6:163930571-163930572
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL078585.1-4	chr6:163930139-163932378	ENSG00000251068

Extended variants
information (count: 138 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1003528	1.00[ASN][1000 genomes]
rs1016501	0.84[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016502	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040514	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047944	1.00[ASN][1000 genomes]
rs11752044	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12194023	1.00[ASN][1000 genomes]
rs1230321	1.00[ASN][1000 genomes]
rs1234603	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234604	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs1234976	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238371	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1614795	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619076	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619863	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629251	1.00[ASN][1000 genomes]
rs1737329	1.00[ASN][1000 genomes]
rs1737333	1.00[ASN][1000 genomes]
rs1737600	1.00[ASN][1000 genomes]
rs1737601	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737603	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737604	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737606	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737607	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs1737609	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737611	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737612	1.00[ASN][1000 genomes]
rs1744924	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744925	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744926	0.83[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744927	0.84[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744928	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744933	0.84[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1745094	1.00[ASN][1000 genomes]
rs2038146	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038147	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038148	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2057003	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092406	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092407	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103671	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2179523	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179524	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321698	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2321700	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321701	1.00[ASN][1000 genomes]
rs2321702	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484877	1.00[ASN][1000 genomes]
rs2744420	1.00[ASN][1000 genomes]
rs2744421	1.00[ASN][1000 genomes]
rs2745364	1.00[CEU][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]
rs2745365	1.00[ASN][1000 genomes]
rs2757579	1.00[ASN][1000 genomes]
rs2757580	1.00[ASN][1000 genomes]
rs2757581	1.00[ASN][1000 genomes]
rs2757582	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757583	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757586	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757587	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757589	0.91[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759381	0.83[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759382	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2759383	0.87[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759384	0.91[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759385	1.00[ASN][1000 genomes]
rs2759387	0.87[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759388	1.00[ASN][1000 genomes]
rs2759389	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759390	1.00[ASN][1000 genomes]
rs2759391	1.00[ASN][1000 genomes]
rs2759392	1.00[ASN][1000 genomes]
rs2759393	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759395	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759398	1.00[ASN][1000 genomes]
rs2759399	1.00[ASN][1000 genomes]
rs2784865	1.00[ASN][1000 genomes]
rs2784867	1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2874602	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708996	1.00[ASN][1000 genomes]
rs4708997	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455901	0.85[EUR][1000 genomes]
rs6455902	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455903	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455904	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905852	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906008	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6909364	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909921	0.85[YRI][hapmap]
rs6913113	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914387	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924130	0.80[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926584	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927417	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931049	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721190	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721191	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746116	1.00[ASN][1000 genomes]
rs7749189	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751784	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7752945	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs7761088	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768051	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769145	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775850	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776279	1.00[ASN][1000 genomes]
rs783136	1.00[ASN][1000 genomes]
rs783138	0.91[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783140	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs803613	1.00[ASN][1000 genomes]
rs809155	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813640	1.00[ASN][1000 genomes]
rs814143	0.87[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295222	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295223	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295224	1.00[ASN][1000 genomes]
rs9347754	1.00[CEU][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]
rs9347755	0.80[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347756	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347759	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347763	1.00[ASN][1000 genomes]
rs9356117	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356120	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365573	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365574	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365577	1.00[ASN][1000 genomes]
rs9456866	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456869	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv524205	chr6:163919517-163938331	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763608	chr6:163920117-163943429	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6915247	QKI	cis	uninvolved skin	skin_eQTL
rs6915247	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
2	chr6:163920200-163934800	Weak transcription	Ovary	ovary
3	chr6:163924400-163931600	Weak transcription	Aorta	Aorta
4	chr6:163925400-163931000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:163925600-163930600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:163926000-163930600	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr6:163926600-163934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:163926600-163934800	Weak transcription	Lung	lung
9	chr6:163926600-163934800	Weak transcription	Psoas Muscle	Psoas
10	chr6:163926600-163934800	Weak transcription	Right Atrium	heart
11	chr6:163926600-163946200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:163926600-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
14	chr6:163926800-163931400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:163926800-163934800	Weak transcription	Right Ventricle	heart
16	chr6:163927200-163931000	Weak transcription	Left Ventricle	heart
17	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:163928000-163930600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
20	chr6:163928400-163931800	Weak transcription	NH-A	brain
21	chr6:163928600-163931000	Enhancers	Brain Substantia Nigra	brain
22	chr6:163928600-163931200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:163928600-163934000	Weak transcription	Fetal Heart	heart
24	chr6:163928600-163938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:163928600-163941000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:163928800-163934800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:163928800-163942800	Weak transcription	HSMM	muscle
28	chr6:163928800-163944000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:163928800-163946600	Weak transcription	HUVEC	blood vessel
30	chr6:163929000-163933200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:163929000-163938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:163929200-163933200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:163929200-163946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:163929200-163946800	Weak transcription	HMEC	breast
36	chr6:163929400-163943800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:163929400-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:163929600-163933200	Weak transcription	K562	blood
39	chr6:163929600-163934200	Weak transcription	HepG2	liver
40	chr6:163929600-163934800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:163929600-163940000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
44	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
46	chr6:163930200-163933600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:163930200-163933600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:163930200-163934800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:163930400-163934600	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:163930400-163940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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