Variant report

Variant	rs2663018
Chromosome Location	chr10:50147024-50147025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50146991-50147041	GM19239	blood:	n/a
2	chr10:50146991-50147041	NT2-D1	testis:	n/a
3	chr10:50146991-50147041	A549	lung:	n/a
4	chr10:50146991-50147041	PFSK-1	brain:	n/a
5	chr10:50146991-50147041	HAEpiC	amniotic membrane:	n/a
6	chr10:50146991-50147041	NB4	blood:	n/a
7	chr10:50146991-50147041	GM12878	blood:	n/a
8	chr10:50146991-50147041	HCM	heart:	n/a
9	chr10:50146991-50147041	GM12891	blood:	n/a
10	chr10:50146991-50147041	HRE	kidney:	n/a
11	chr10:50146991-50147041	ECC-1	luminal epithelium:	n/a
12	chr10:50146991-50147041	GM06990	blood:	n/a
13	chr10:50146991-50147041	HCPEpiC	choroid plexus:	n/a
14	chr10:50146991-50147041	BJ	skin:	n/a
15	chr10:50146991-50147041	SK-N-SH_RA	brain:	n/a
16	chr10:50146991-50147041	HCT-116	colon:	n/a
17	chr10:50146991-50147041	HPAEpiC	pulmonary alveolar:	n/a
18	chr10:50146991-50147041	AG04450	lung:	fetal
19	chr10:50146991-50147041	MCF-7	breast:	n/a
20	chr10:50146991-50147041	GM12892	blood:	n/a
21	chr10:50146991-50147041	AG09309	skin:	n/a
22	chr10:50146991-50147041	HIPEpiC	eye:	n/a
23	chr10:50146991-50147041	HMEC	breast:	n/a
24	chr10:50146991-50147041	T-47D	breast:	n/a
25	chr10:50146991-50147041	RPTEC	kidney:	n/a
26	chr10:50146991-50147041	NH-A	brain:	n/a
27	chr10:50146991-50147041	SK-N-SH	brain:	n/a
28	chr10:50146991-50147041	CMK	blood:	n/a
29	chr10:50146991-50147041	NHBE	bronchial:	n/a
30	chr10:50146991-50147041	Caco-2	colon:	n/a
31	chr10:50146991-50147041	HL-60	blood:	n/a
32	chr10:50146991-50147041	AG10803	skin:	n/a
33	chr10:50146991-50147041	SKMC	muscle:	n/a
34	chr10:50146991-50147041	Hepatocyte	liver:	n/a
35	chr10:50146991-50147041	Hela-S3	cervix:	n/a
36	chr10:50146991-50147041	IMR90	lung:	fetal
37	chr10:50146991-50147041	HRPEpiC	eye:	n/a
38	chr10:50146991-50147041	NHDF-neo	bronchial:	n/a
39	chr10:50146991-50147041	Jurkat	blood:	n/a
40	chr10:50146991-50147041	AG04449	skin:	fetal
41	chr10:50146991-50147041	HEEpiC	esophagus:	n/a
42	chr10:50146991-50147041	HCF	heart:	n/a
43	chr10:50146991-50147041	AoSMC	blood vessel:	n/a
44	chr10:50146991-50147041	AG09319	gingival:	n/a
45	chr10:50146991-50147041	U87	brain:	n/a
46	chr10:50146991-50147041	ovcar-3	ovarian:	n/a
47	chr10:50146991-50147041	ProgFib	skin:	n/a
48	chr10:50146991-50147041	PANC-1	pancreas:	n/a
49	chr10:50146991-50147041	SAEC	small airway:	n/a
50	chr10:50146991-50147041	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
LRRC18	CpG island
ENSG00000241577	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1054553	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10735227	1.00[CHB][hapmap]
rs10745288	1.00[CHB][hapmap]
rs10745289	1.00[CHB][hapmap]
rs10776655	1.00[CHB][hapmap]
rs10776656	1.00[CHB][hapmap]
rs10857659	1.00[CHB][hapmap]
rs1317894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17011795	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1913524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2137921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2244085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2244704	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2244777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2377632	1.00[CHB][hapmap]
rs2377649	1.00[CHB][hapmap]
rs2377694	1.00[CHB][hapmap]
rs2458674	1.00[CHB][hapmap]
rs2466749	1.00[JPT][hapmap]
rs2466750	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2663017	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2663024	1.00[CHB][hapmap]
rs2663027	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2663058	1.00[CHB][hapmap]
rs2663061	1.00[CHB][hapmap]
rs2663062	1.00[CHB][hapmap]
rs2671698	1.00[CHB][hapmap]
rs2671699	1.00[CHB][hapmap]
rs2671700	1.00[CHB][hapmap]
rs2671701	1.00[CHB][hapmap]
rs2671714	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2671716	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2889691	1.00[CHB][hapmap]
rs2943248	1.00[CHB][hapmap]
rs3750866	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3810953	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3849151	1.00[CHB][hapmap]
rs3849152	1.00[CHB][hapmap]
rs41283297	1.00[EUR][1000 genomes]
rs4838663	1.00[JPT][hapmap]
rs57406661	0.90[ASN][1000 genomes]
rs59221892	1.00[EUR][1000 genomes]
rs59354363	1.00[EUR][1000 genomes]
rs59965106	1.00[EUR][1000 genomes]
rs60312033	0.90[ASN][1000 genomes]
rs7069844	1.00[JPT][hapmap]
rs7080003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7094724	1.00[CHB][hapmap]
rs73298906	0.90[ASN][1000 genomes]
rs7905794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7911009	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2663018	HBG1	trans	brain	seeQTL
rs2663018	HBG2	trans	brain	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50121000-50155800	Weak transcription	Primary T cells from cord blood	blood
2	chr10:50125400-50154400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:50127800-50150400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:50127800-50150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:50134600-50160400	Weak transcription	Right Atrium	heart
6	chr10:50135400-50149800	Weak transcription	Spleen	Spleen
7	chr10:50142600-50148000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr10:50143400-50148800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:50143400-50153200	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:50143600-50148800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:50143600-50164400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:50144600-50196200	Strong transcription	Primary B cells from cord blood	blood
13	chr10:50145000-50193200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr10:50145400-50193200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr10:50145800-50193400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:50146200-50148200	Weak transcription	GM12878-XiMat	blood
17	chr10:50146800-50149600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:50147000-50152800	Strong transcription	Primary monocytes fromperipheralblood	blood

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