Variant report

Variant	rs7772756
Chromosome Location	chr6:163844046-163844047
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	chr6:163842546..163846148-chr6:163847006..163850145,4	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11962088	0.93[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11964436	0.88[EUR][1000 genomes]
rs16894934	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16895015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1737328	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs17591955	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1764011	0.81[JPT][hapmap]
rs2064230	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2064231	0.80[EUR][1000 genomes]
rs2065857	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2143358	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2294698	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2294703	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2294706	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2294707	0.88[ASN][1000 genomes]
rs2294709	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs34979127	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3756879	0.93[CHB][hapmap]
rs3763197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857504	0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3904720	0.91[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4263561	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs4709716	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4709717	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs55779730	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56062115	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6455897	0.85[JPT][hapmap]
rs6931903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6939218	0.82[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs715020	1.00[JPT][hapmap]
rs73013582	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73013591	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73015309	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73015318	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73015387	0.92[ASN][1000 genomes]
rs7758706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9346960	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9347760	0.94[JPT][hapmap]
rs9364689	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9364691	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9364692	0.87[CHB][hapmap];1.00[JPT][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7772756	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163837400-163857200	Weak transcription	Spleen	Spleen
2	chr6:163837800-163851000	Weak transcription	Small Intestine	intestine
3	chr6:163838000-163847600	Weak transcription	Pancreas	Pancrea
4	chr6:163838000-163851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:163838000-163860600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:163838400-163845000	Weak transcription	Placenta	Placenta
7	chr6:163838800-163845200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:163839200-163845400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:163839600-163846200	Weak transcription	Thymus	Thymus
10	chr6:163839800-163851600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:163840000-163845000	Enhancers	Colon Smooth Muscle	Colon
12	chr6:163840200-163844800	Weak transcription	Hela-S3	cervix
13	chr6:163840200-163844800	Enhancers	HepG2	liver
14	chr6:163840800-163865000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:163840800-163881400	Weak transcription	Fetal Stomach	stomach
16	chr6:163841000-163847600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:163841600-163844400	Weak transcription	NHLF	lung
18	chr6:163841600-163845800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:163841600-163847400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:163841600-163847400	Weak transcription	Aorta	Aorta
21	chr6:163841600-163848000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:163841600-163848600	Weak transcription	HMEC	breast
23	chr6:163841600-163853200	Enhancers	Adipose Nuclei	Adipose
24	chr6:163841600-163858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:163841600-163864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:163841800-163845600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:163841800-163848600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:163841800-163851000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:163842000-163844200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:163842000-163844200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:163842000-163844600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:163842000-163845200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:163842000-163846000	Weak transcription	Stomach Mucosa	stomach
34	chr6:163842000-163847600	Enhancers	Fetal Brain Male	brain
35	chr6:163842000-163848200	Weak transcription	GM12878-XiMat	blood
36	chr6:163842000-163850000	Weak transcription	HSMMtube	muscle
37	chr6:163842200-163851000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:163842400-163844400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr6:163842400-163844600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:163842400-163847200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr6:163842400-163848000	Weak transcription	Fetal Lung	lung
42	chr6:163842400-163849800	Weak transcription	Primary T cells from cord blood	blood
43	chr6:163842600-163845400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:163842600-163847400	Weak transcription	HUVEC	blood vessel
45	chr6:163842600-163865200	Weak transcription	Fetal Kidney	kidney
46	chr6:163842800-163844200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:163842800-163846400	Enhancers	Ovary	ovary
48	chr6:163843000-163844800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:163843000-163845600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:163843000-163845800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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