Variant report

Variant	rs6931903
Chromosome Location	chr6:163910325-163910326
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	chr6:163906185..163908152-chr6:163909276..163911909,3	MCF-7	breast:
2	chr6:163906959..163909795-chr6:163909978..163912213,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11962088	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs16895015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1737319	0.84[CHD][hapmap]
rs1737324	0.87[CHD][hapmap]
rs1737328	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs17591955	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs1764010	0.84[CHD][hapmap]
rs2143358	0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2294698	0.88[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs2294703	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2294706	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2294707	1.00[ASN][1000 genomes]
rs2294709	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3756879	0.94[CHB][hapmap];0.80[JPT][hapmap]
rs3763197	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3857504	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs3904720	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs4263561	0.83[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs4709716	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4709717	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4709718	0.80[ASN][1000 genomes]
rs4709720	0.83[ASN][1000 genomes]
rs59759961	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6455897	0.84[JPT][hapmap]
rs6939218	0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs715020	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs73015309	0.87[ASN][1000 genomes]
rs73015318	0.87[ASN][1000 genomes]
rs73015387	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7758706	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7772756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9346960	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs9347760	0.82[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs9364688	0.85[ASN][1000 genomes]
rs9364689	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9364691	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs9364692	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2750737	chr6:163910230-163910954	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6931903	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163881800-163910800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:163890800-163911400	Weak transcription	Osteobl	bone
3	chr6:163892200-163911400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:163892600-163910400	Weak transcription	HMEC	breast
5	chr6:163893000-163912800	Weak transcription	Fetal Brain Male	brain
6	chr6:163893400-163912000	Weak transcription	Fetal Lung	lung
7	chr6:163896600-163910800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:163898400-163911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:163899600-163910400	Weak transcription	NHLF	lung
11	chr6:163899800-163911000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:163899800-163911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:163901000-163910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:163901600-163910400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:163902200-163913600	Enhancers	Brain Anterior Caudate	brain
16	chr6:163902600-163921800	Weak transcription	HepG2	liver
17	chr6:163902800-163912200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:163903000-163915000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:163903000-163924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:163903200-163910600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:163903400-163910400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:163903600-163911400	Weak transcription	Fetal Thymus	thymus
23	chr6:163903600-163926000	Weak transcription	Lung	lung
24	chr6:163903800-163912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:163904000-163917400	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:163904800-163910400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:163904800-163910400	Weak transcription	NHDF-Ad	bronchial
28	chr6:163904800-163912200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:163905000-163918400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:163905200-163910400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:163905200-163910800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:163905200-163915400	Enhancers	Fetal Heart	heart
33	chr6:163905800-163921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:163906400-163912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:163906400-163912200	Enhancers	Adipose Nuclei	Adipose
36	chr6:163906400-163912200	Enhancers	Brain Angular Gyrus	brain
37	chr6:163906600-163912400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:163906800-163910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:163906800-163916800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:163906800-163919400	Weak transcription	Ovary	ovary
41	chr6:163907000-163911600	Weak transcription	Gastric	stomach
42	chr6:163907000-163913400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:163907200-163911200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:163907200-163912400	Enhancers	Brain Substantia Nigra	brain
45	chr6:163907200-163915400	Weak transcription	Right Ventricle	heart
46	chr6:163907200-163925000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:163907200-163926000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:163907600-163913200	Enhancers	Brain Cingulate Gyrus	brain
49	chr6:163907800-163912000	Enhancers	Brain Germinal Matrix	brain
50	chr6:163908000-163910600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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