Variant report

Variant	rs2294707
Chromosome Location	chr6:163911414-163911415
allele	A/G
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: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16895015	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17591955	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2143358	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2294703	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2294709	0.86[ASN][1000 genomes]
rs3756879	0.82[EUR][1000 genomes]
rs3763197	0.88[ASN][1000 genomes]
rs41268571	0.82[EUR][1000 genomes]
rs4709717	0.81[ASN][1000 genomes]
rs4709718	0.80[ASN][1000 genomes]
rs4709720	0.83[ASN][1000 genomes]
rs59759961	0.87[ASN][1000 genomes]
rs6931903	1.00[ASN][1000 genomes]
rs73015309	0.87[ASN][1000 genomes]
rs73015318	0.87[ASN][1000 genomes]
rs73015387	0.94[ASN][1000 genomes]
rs7758706	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7772756	0.88[ASN][1000 genomes]
rs9364688	0.85[ASN][1000 genomes]
rs9364689	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2294707	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163893000-163912800	Weak transcription	Fetal Brain Male	brain
2	chr6:163893400-163912000	Weak transcription	Fetal Lung	lung
3	chr6:163898400-163911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:163899800-163911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:163902200-163913600	Enhancers	Brain Anterior Caudate	brain
7	chr6:163902600-163921800	Weak transcription	HepG2	liver
8	chr6:163902800-163912200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr6:163903000-163915000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:163903000-163924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:163903600-163926000	Weak transcription	Lung	lung
12	chr6:163903800-163912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:163904000-163917400	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:163904800-163912200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:163905000-163918400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:163905200-163915400	Enhancers	Fetal Heart	heart
17	chr6:163905800-163921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:163906400-163912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:163906400-163912200	Enhancers	Adipose Nuclei	Adipose
20	chr6:163906400-163912200	Enhancers	Brain Angular Gyrus	brain
21	chr6:163906600-163912400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:163906800-163916800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:163906800-163919400	Weak transcription	Ovary	ovary
24	chr6:163907000-163911600	Weak transcription	Gastric	stomach
25	chr6:163907000-163913400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:163907200-163912400	Enhancers	Brain Substantia Nigra	brain
27	chr6:163907200-163915400	Weak transcription	Right Ventricle	heart
28	chr6:163907200-163925000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:163907200-163926000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:163907600-163913200	Enhancers	Brain Cingulate Gyrus	brain
31	chr6:163907800-163912000	Enhancers	Brain Germinal Matrix	brain
32	chr6:163908600-163917200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:163908800-163911600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:163908800-163915000	Weak transcription	GM12878-XiMat	blood
35	chr6:163909000-163912000	Weak transcription	Liver	Liver
36	chr6:163909000-163912200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:163909200-163911800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:163909200-163921000	Weak transcription	Primary B cells from cord blood	blood
39	chr6:163909400-163911600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr6:163909400-163912200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:163909400-163913200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:163909400-163923800	Weak transcription	Aorta	Aorta
43	chr6:163909600-163912000	Enhancers	A549	lung
44	chr6:163909600-163922600	Weak transcription	Fetal Brain Female	brain
45	chr6:163910000-163911800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr6:163910000-163911800	Genic enhancers	HSMM	muscle
47	chr6:163910000-163913200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr6:163910200-163911600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:163910200-163911600	Enhancers	HSMMtube	muscle
50	chr6:163910200-163911800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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