Variant report

Variant	rs2475877
Chromosome Location	chr6:163871318-163871319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr6:163871273-163871612	U2OS	brain:	n/a	n/a
2	POLR2A	chr6:163871182-163871358	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:163833260..163836877-chr6:163867891..163872253,4	K562	blood:
2	chr6:163860977..163864792-chr6:163871306..163876031,5	K562	blood:
3	chr6:163870248..163872989-chr6:163874966..163878532,3	K562	blood:
4	chr6:163866441..163869284-chr6:163870022..163872940,2	MCF-7	breast:
5	chr6:163870026..163872453-chr6:163876589..163878532,2	K562	blood:
6	chr6:163870050..163872989-chr6:163873409..163876466,3	K562	blood:
7	chr6:163867918..163871550-chr6:163871903..163874909,5	K562	blood:

No data

Variant related genes	Relation type
QKI	TF binding region
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1230320	0.81[EUR][1000 genomes]
rs1234977	0.81[EUR][1000 genomes]
rs1572434	0.85[EUR][1000 genomes]
rs1614869	0.81[EUR][1000 genomes]
rs1744929	0.81[EUR][1000 genomes]
rs2259476	0.85[EUR][1000 genomes]
rs2259477	0.85[EUR][1000 genomes]
rs2475390	0.87[EUR][1000 genomes]
rs2757575	0.87[EUR][1000 genomes]
rs2757576	0.87[EUR][1000 genomes]
rs2757584	0.85[EUR][1000 genomes]
rs2757585	0.87[EUR][1000 genomes]
rs2759386	0.87[EUR][1000 genomes]
rs2759396	0.84[EUR][1000 genomes]
rs6939187	0.87[EUR][1000 genomes]
rs783137	0.87[EUR][1000 genomes]
rs783139	0.87[EUR][1000 genomes]
rs803612	0.87[EUR][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
rs2475877	QKI	cis	Whole Blood	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163840800-163881400	Weak transcription	Fetal Stomach	stomach
2	chr6:163845400-163877800	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:163848800-163878400	Weak transcription	Pancreas	Pancrea
4	chr6:163852000-163880000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:163852200-163875600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:163852200-163875600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:163858400-163876600	Weak transcription	Primary B cells from cord blood	blood
8	chr6:163859600-163876600	Weak transcription	HUVEC	blood vessel
9	chr6:163859600-163878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:163860200-163875400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:163860200-163876200	Weak transcription	HSMM	muscle
12	chr6:163860200-163876200	Weak transcription	NHLF	lung
13	chr6:163860200-163877800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:163860400-163876600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:163860800-163878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:163860800-163880000	Weak transcription	Lung	lung
17	chr6:163862600-163878000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:163862800-163876400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:163862800-163878600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:163863000-163876800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:163863000-163880200	Weak transcription	Esophagus	oesophagus
22	chr6:163863200-163876400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:163863200-163879200	Weak transcription	Fetal Brain Male	brain
24	chr6:163863600-163871400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:163863600-163876600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:163863600-163878400	Weak transcription	Primary T cells from cord blood	blood
27	chr6:163863600-163878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:163863800-163877800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:163863800-163877800	Weak transcription	Placenta	Placenta
30	chr6:163863800-163878000	Weak transcription	HMEC	breast
31	chr6:163863800-163878200	Weak transcription	NHEK	skin
32	chr6:163863800-163878800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:163864600-163875600	Weak transcription	Right Atrium	heart
34	chr6:163864800-163876400	Enhancers	Brain Substantia Nigra	brain
35	chr6:163865000-163877000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:163865200-163881400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:163865400-163875600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:163865400-163875600	Weak transcription	Fetal Brain Female	brain
39	chr6:163865400-163877800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:163865400-163877800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:163865400-163878600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:163865400-163878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:163865600-163876600	Weak transcription	K562	blood
44	chr6:163865600-163878000	Weak transcription	Fetal Kidney	kidney
45	chr6:163866200-163872200	Weak transcription	Gastric	stomach
46	chr6:163867000-163877000	Weak transcription	Psoas Muscle	Psoas
47	chr6:163867800-163876600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:163868000-163871600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:163868000-163876400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:163868000-163876600	Weak transcription	Right Ventricle	heart

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