Variant report

Variant	rs9804165
Chromosome Location	chr1:47061655-47061656
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	chr1:47052682..47056987-chr1:47061043..47065460,4	K562	blood:
2	chr1:47061375..47064454-chr1:47072882..47074737,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10890405	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211306	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211309	0.81[ASN][1000 genomes]
rs11211312	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11211317	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211328	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12029680	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12047046	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12048342	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12093643	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138971	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1933934	0.96[EUR][1000 genomes]
rs3753359	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3766231	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766236	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766240	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3818323	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55680528	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56869893	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59446321	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6429606	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7552833	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7556307	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7556481	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs764803	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8602	0.85[EUR][1000 genomes]
rs9659890	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9804164	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1009899	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv534954	chr1:47007765-47062737	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1008246	chr1:47007844-47069845	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1011892	chr1:47010519-47067492	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9804165	MKNK1	Cis_1M	lymphoblastoid	RTeQTL
rs9804165	MKNK1	cis	Whole Blood	GTEx
rs9804165	MOB3C	cis	Whole Blood	GTEx
rs9804165	MKNK1	cis	lung	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47025600-47062400	Weak transcription	Fetal Heart	heart
2	chr1:47042600-47069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:47042800-47068800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:47045600-47068800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:47046200-47069000	Weak transcription	Fetal Kidney	kidney
6	chr1:47048400-47069000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:47050600-47068600	Weak transcription	NHDF-Ad	bronchial
8	chr1:47055400-47068800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:47056400-47067000	Weak transcription	Stomach Mucosa	stomach
10	chr1:47056600-47068800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:47057000-47069000	Weak transcription	NH-A	brain
12	chr1:47057600-47065200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:47057600-47069000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:47058000-47068600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:47058600-47064800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:47058600-47064800	Weak transcription	Small Intestine	intestine
17	chr1:47058600-47065000	Weak transcription	Esophagus	oesophagus
18	chr1:47058600-47069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:47058800-47064400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:47058800-47064600	Weak transcription	Psoas Muscle	Psoas
21	chr1:47058800-47065600	Weak transcription	NHLF	lung
22	chr1:47058800-47068600	Weak transcription	Fetal Lung	lung
23	chr1:47058800-47068600	Weak transcription	Hela-S3	cervix
24	chr1:47059000-47064400	Weak transcription	Brain Angular Gyrus	brain
25	chr1:47059000-47064600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:47059000-47065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:47059000-47065000	Weak transcription	Right Ventricle	heart
28	chr1:47059000-47065200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:47059000-47068400	Weak transcription	Aorta	Aorta
30	chr1:47059000-47068800	Weak transcription	Ovary	ovary
31	chr1:47059000-47068800	Weak transcription	HUVEC	blood vessel
32	chr1:47059200-47063000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:47059200-47064400	Weak transcription	Brain Germinal Matrix	brain
34	chr1:47059200-47065000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:47059200-47067000	Weak transcription	HepG2	liver
36	chr1:47059200-47067400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:47059200-47068600	Weak transcription	Colonic Mucosa	Colon
38	chr1:47059200-47068600	Weak transcription	Fetal Brain Female	brain
39	chr1:47059200-47068800	Weak transcription	A549	lung
40	chr1:47059600-47062200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:47059600-47065200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:47059600-47068600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:47059800-47062000	Enhancers	Primary B cells from cord blood	blood
44	chr1:47059800-47062400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:47059800-47064000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:47059800-47067200	Weak transcription	Gastric	stomach
47	chr1:47059800-47067200	Weak transcription	HMEC	breast
48	chr1:47059800-47068600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:47059800-47068600	Weak transcription	Placenta	Placenta
50	chr1:47059800-47068800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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