Variant report

Variant	rs783138
Chromosome Location	chr6:163858988-163858989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163840085..163841837-chr6:163858856..163861674,2	MCF-7	breast:
2	chr6:163849473..163851849-chr6:163857419..163859004,2	K562	blood:
3	chr6:163833543..163837266-chr6:163857952..163863749,8	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs1003528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016501	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016502	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040514	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047944	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11752044	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194023	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230321	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234603	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234976	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614795	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619076	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619863	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629251	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs1737317	1.00[CHB][hapmap]
rs1737323	1.00[CHB][hapmap]
rs1737329	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737333	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737600	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737601	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737603	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737604	0.89[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737606	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737607	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737609	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737612	1.00[ASN][1000 genomes]
rs1744924	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744925	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744926	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744927	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744928	1.00[ASN][1000 genomes]
rs1744933	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1745094	1.00[ASN][1000 genomes]
rs1764008	1.00[CHB][hapmap]
rs2038146	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038147	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038148	0.91[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs2057003	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092406	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092407	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103671	0.86[EUR][1000 genomes]
rs2179523	1.00[ASN][1000 genomes]
rs2179524	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	1.00[ASN][1000 genomes]
rs2321701	1.00[ASN][1000 genomes]
rs2321702	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.84[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	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745365	1.00[ASN][1000 genomes]
rs2757579	1.00[ASN][1000 genomes]
rs2757580	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757581	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757586	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757587	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757588	1.00[CHB][hapmap]
rs2757589	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759381	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs2759382	0.85[EUR][1000 genomes]
rs2759383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759385	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759388	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759389	0.90[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759390	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759391	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759392	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759393	0.91[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759395	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759398	1.00[ASN][1000 genomes]
rs2759399	1.00[ASN][1000 genomes]
rs2784865	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784867	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2784874	1.00[CHB][hapmap]
rs2874602	0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708996	1.00[ASN][1000 genomes]
rs4708997	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455902	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455903	0.90[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455904	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905852	0.85[EUR][1000 genomes]
rs6906008	0.85[EUR][1000 genomes]
rs6909364	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909921	0.82[YRI][hapmap]
rs6913113	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914387	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915247	0.91[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924130	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6926584	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927417	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931049	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721190	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721191	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746116	1.00[ASN][1000 genomes]
rs7749189	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751784	0.82[EUR][1000 genomes]
rs7752945	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7761088	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768051	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769145	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775850	1.00[ASN][1000 genomes]
rs7776279	1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[ASN][1000 genomes]
rs783136	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783140	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs803613	1.00[ASN][1000 genomes]
rs809155	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813640	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs814143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295222	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295223	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295224	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347754	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347755	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347756	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347759	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347763	1.00[ASN][1000 genomes]
rs9355427	1.00[CHB][hapmap]
rs9356117	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356119	1.00[CHB][hapmap]
rs9356120	1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	0.89[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365573	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9365574	0.91[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365577	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9456866	0.90[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456869	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[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	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv523664	chr6:163858237-163907885	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs783138	QKI	Cis_1M	lymphoblastoid	RTeQTL
rs783138	QKI	cis	uninvolved skin	skin_eQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163838000-163860600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:163840800-163865000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:163840800-163881400	Weak transcription	Fetal Stomach	stomach
4	chr6:163841600-163864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:163842600-163865200	Weak transcription	Fetal Kidney	kidney
6	chr6:163843800-163862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:163844200-163860400	Weak transcription	Lung	lung
8	chr6:163845400-163877800	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:163846000-163861600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:163846400-163860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:163847800-163862400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:163847800-163862600	Weak transcription	Aorta	Aorta
13	chr6:163848800-163878400	Weak transcription	Pancreas	Pancrea
14	chr6:163849200-163859000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:163852000-163859400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:163852000-163859400	Weak transcription	NHEK	skin
17	chr6:163852000-163880000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:163852200-163865200	Weak transcription	A549	lung
19	chr6:163852200-163875600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:163852200-163875600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:163853600-163862600	Weak transcription	Esophagus	oesophagus
22	chr6:163853800-163859000	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:163855200-163860000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:163855400-163859600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:163855400-163860000	Weak transcription	Left Ventricle	heart
26	chr6:163855400-163860600	Weak transcription	Psoas Muscle	Psoas
27	chr6:163856400-163861400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:163856400-163865600	Enhancers	Adipose Nuclei	Adipose
29	chr6:163856600-163859000	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:163856600-163859400	Weak transcription	Fetal Brain Female	brain
31	chr6:163856800-163859000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:163857000-163859600	Enhancers	HUVEC	blood vessel
33	chr6:163857400-163859200	Enhancers	Brain Angular Gyrus	brain
34	chr6:163857400-163859400	Enhancers	Fetal Heart	heart
35	chr6:163857400-163860400	Enhancers	NH-A	brain
36	chr6:163857400-163860600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:163857600-163859400	ZNF genes & repeats	GM12878-XiMat	blood
38	chr6:163857800-163859200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:163857800-163859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:163857800-163859800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:163857800-163859800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:163857800-163860200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:163857800-163860200	Enhancers	Osteobl	bone
44	chr6:163857800-163860400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:163857800-163860600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:163857800-163862800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:163858000-163859000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr6:163858000-163859000	Enhancers	Fetal Lung	lung
49	chr6:163858000-163859000	Enhancers	NHDF-Ad	bronchial
50	chr6:163858000-163859200	Enhancers	HUES64 Cell Line	embryonic stem cell

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