Variant report

Variant	rs4708995
Chromosome Location	chr6:163900648-163900649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163893040..163896029-chr6:163899899..163902855,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13202282	0.81[AFR][1000 genomes]
rs2294709	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35442073	0.81[AFR][1000 genomes]
rs4709718	0.80[AMR][1000 genomes]
rs4709720	0.81[AFR][1000 genomes]
rs9364688	0.81[AMR][1000 genomes]
rs9364691	0.81[AFR][1000 genomes]
rs9364692	0.81[AFR][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
rs4708995	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163878800-163910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:163880600-163903200	Weak transcription	Pancreas	Pancrea
3	chr6:163880600-163906600	Weak transcription	Gastric	stomach
4	chr6:163881800-163901000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:163881800-163910800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:163882000-163906600	Weak transcription	Thymus	Thymus
7	chr6:163883000-163900800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:163883000-163900800	Weak transcription	NH-A	brain
9	chr6:163883000-163906800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:163888400-163902800	Weak transcription	Right Atrium	heart
11	chr6:163888400-163908200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:163890000-163906200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:163890800-163911400	Weak transcription	Osteobl	bone
14	chr6:163891400-163906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:163891400-163910200	Weak transcription	HUVEC	blood vessel
16	chr6:163891600-163905000	Weak transcription	K562	blood
17	chr6:163891800-163902000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:163892000-163904200	Weak transcription	NHDF-Ad	bronchial
19	chr6:163892200-163911400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:163892400-163903400	Weak transcription	Primary B cells from cord blood	blood
21	chr6:163892600-163906600	Weak transcription	NHEK	skin
22	chr6:163892600-163910400	Weak transcription	HMEC	breast
23	chr6:163893000-163912800	Weak transcription	Fetal Brain Male	brain
24	chr6:163893400-163912000	Weak transcription	Fetal Lung	lung
25	chr6:163893600-163901200	Weak transcription	Fetal Kidney	kidney
26	chr6:163893600-163904600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:163893600-163906200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:163893600-163906200	Weak transcription	A549	lung
29	chr6:163893600-163910200	Weak transcription	HSMMtube	muscle
30	chr6:163894400-163904800	Weak transcription	Esophagus	oesophagus
31	chr6:163894600-163902800	Weak transcription	Primary T cells from cord blood	blood
32	chr6:163894600-163902800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:163896000-163906400	Weak transcription	Aorta	Aorta
34	chr6:163896600-163910800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:163897600-163905800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:163897800-163901200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:163898000-163903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:163898000-163907800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:163898200-163904000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:163898200-163906600	Weak transcription	Spleen	Spleen
41	chr6:163898400-163901200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:163898400-163902800	Weak transcription	Psoas Muscle	Psoas
43	chr6:163898400-163903000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:163898400-163906400	Weak transcription	Ovary	ovary
45	chr6:163898400-163908200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:163898400-163909000	Weak transcription	Fetal Brain Female	brain
47	chr6:163898400-163911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:163898600-163907800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:163898800-163901200	Weak transcription	Brain Angular Gyrus	brain

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