Variant report

Variant	rs2759391
Chromosome Location	chr6:163864226-163864227
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163863925..163866633-chr6:163876893..163879204,2	MCF-7	breast:
2	chr6:163860459..163862535-chr6:163862802..163865105,2	K562	blood:
3	chr6:163835043..163836846-chr6:163863804..163865596,2	K562	blood:
4	chr6:163863869..163866423-chr6:163944458..163946973,2	K562	blood:
5	chr6:163860977..163864792-chr6:163871306..163876031,5	K562	blood:
6	chr6:163840864..163843794-chr6:163863418..163865440,3	K562	blood:
7	chr6:163862457..163864512-chr6:163873673..163876031,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1003528	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016501	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016502	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1040514	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1047944	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752044	1.00[ASN][1000 genomes]
rs12194023	1.00[ASN][1000 genomes]
rs1230321	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234603	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234976	1.00[ASN][1000 genomes]
rs1614795	1.00[ASN][1000 genomes]
rs1619076	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1619863	1.00[ASN][1000 genomes]
rs1629251	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737317	1.00[CHB][hapmap]
rs1737323	1.00[CHB][hapmap]
rs1737329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737600	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737601	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737603	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737606	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737607	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737609	1.00[ASN][1000 genomes]
rs1737611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737612	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744924	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744925	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744926	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs1744927	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744928	1.00[ASN][1000 genomes]
rs1744933	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1745094	0.92[CEU][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764008	1.00[CHB][hapmap]
rs2038146	1.00[ASN][1000 genomes]
rs2038147	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2057003	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2092406	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2092407	1.00[ASN][1000 genomes]
rs2179523	1.00[ASN][1000 genomes]
rs2179524	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	1.00[ASN][1000 genomes]
rs2321701	0.88[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321702	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2484877	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744420	1.00[ASN][1000 genomes]
rs2744421	1.00[ASN][1000 genomes]
rs2745364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2745365	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757578	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2757579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757581	1.00[CHB][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	1.00[ASN][1000 genomes]
rs2757586	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757587	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2757589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759381	1.00[ASN][1000 genomes]
rs2759383	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759384	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759385	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759387	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759389	1.00[ASN][1000 genomes]
rs2759390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759392	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759393	1.00[ASN][1000 genomes]
rs2759395	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759398	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759399	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784865	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2784874	0.81[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap]
rs2874602	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4708996	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708997	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs5008180	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	1.00[ASN][1000 genomes]
rs6455902	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6455903	1.00[ASN][1000 genomes]
rs6455904	1.00[ASN][1000 genomes]
rs6909364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6913113	1.00[ASN][1000 genomes]
rs6914387	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6915247	1.00[ASN][1000 genomes]
rs6924130	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6926584	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6927417	1.00[ASN][1000 genomes]
rs6931049	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs721190	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs721191	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7746116	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7752945	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7761088	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7768051	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7769145	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7775850	1.00[ASN][1000 genomes]
rs7776279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783140	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs803613	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs809155	1.00[ASN][1000 genomes]
rs813640	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814143	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295222	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295223	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs9295224	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs9347754	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347755	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347756	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347759	1.00[ASN][1000 genomes]
rs9347763	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355427	1.00[CHB][hapmap]
rs9356117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9356119	1.00[CHB][hapmap]
rs9356120	1.00[ASN][1000 genomes]
rs9356121	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365572	1.00[ASN][1000 genomes]
rs9365573	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9365574	1.00[ASN][1000 genomes]
rs9365577	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456866	1.00[ASN][1000 genomes]
rs9456869	1.00[CHB][hapmap];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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2759391	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163840800-163865000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:163840800-163881400	Weak transcription	Fetal Stomach	stomach
3	chr6:163841600-163864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:163842600-163865200	Weak transcription	Fetal Kidney	kidney
5	chr6:163845400-163877800	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:163848800-163878400	Weak transcription	Pancreas	Pancrea
7	chr6:163852000-163880000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:163852200-163865200	Weak transcription	A549	lung
9	chr6:163852200-163875600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:163852200-163875600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:163856400-163865600	Enhancers	Adipose Nuclei	Adipose
12	chr6:163858400-163876600	Weak transcription	Primary B cells from cord blood	blood
13	chr6:163858800-163865400	Enhancers	Brain Germinal Matrix	brain
14	chr6:163859000-163865000	Weak transcription	Stomach Mucosa	stomach
15	chr6:163859200-163864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:163859600-163865600	Enhancers	Fetal Heart	heart
17	chr6:163859600-163876600	Weak transcription	HUVEC	blood vessel
18	chr6:163859600-163878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:163859800-163865000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:163859800-163865000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:163859800-163867600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:163860200-163865000	Weak transcription	Ovary	ovary
23	chr6:163860200-163875400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:163860200-163876200	Weak transcription	HSMM	muscle
25	chr6:163860200-163876200	Weak transcription	NHLF	lung
26	chr6:163860200-163877800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:163860400-163864800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:163860400-163864800	Weak transcription	NH-A	brain
29	chr6:163860400-163876600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:163860800-163864400	Enhancers	Colon Smooth Muscle	Colon
31	chr6:163860800-163878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:163860800-163880000	Weak transcription	Lung	lung
33	chr6:163861400-163864600	Enhancers	Brain Angular Gyrus	brain
34	chr6:163861600-163864800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:163861800-163864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr6:163862200-163864800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:163862400-163865400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:163862400-163867400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:163862600-163864600	Enhancers	Spleen	Spleen
40	chr6:163862600-163864800	Enhancers	Left Ventricle	heart
41	chr6:163862600-163878000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:163862800-163864400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:163862800-163864600	Enhancers	Gastric	stomach
44	chr6:163862800-163864800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:163862800-163876400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:163862800-163878600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:163863000-163864800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:163863000-163864800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr6:163863000-163864800	Weak transcription	Fetal Brain Female	brain
50	chr6:163863000-163865000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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