Variant report

Variant	rs8084642
Chromosome Location	chr18:30349146-30349147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr18:30349130-30351725	H1-hESC	embryonic stem cell:	n/a	chr18:30350832-30350843
2	FOXA1	chr18:30349078-30349707	HepG2	liver:	n/a	n/a
3	POLR2A	chr18:30348684-30352312	HepG2	liver:	n/a	n/a
4	KAP1	chr18:30348221-30349211	HEK293	kidney:	n/a	n/a
5	MYBL2	chr18:30349117-30349942	HepG2	liver:	n/a	n/a
6	KAP1	chr18:30348583-30349314	U2OS	brain:	n/a	n/a
7	CEBPB	chr18:30348648-30349500	HepG2	liver:	n/a	n/a
8	FOXA1	chr18:30349075-30349682	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:30349111-30349161	AoSMC	blood vessel:	n/a
2	chr18:30349111-30349161	HepG2	liver:	n/a
3	chr18:30349111-30349161	AG04449	skin:	fetal
4	chr18:30349111-30349161	K562	blood:	n/a
5	chr18:30349111-30349161	NHBE	bronchial:	n/a
6	chr18:30349111-30349161	SK-N-SH	brain:	n/a
7	chr18:30349111-30349161	HUVEC	blood vessel:	n/a
8	chr18:30349111-30349161	HAEpiC	amniotic membrane:	n/a
9	chr18:30349111-30349161	PANC-1	pancreas:	n/a
10	chr18:30349111-30349161	GM12878	blood:	n/a
11	chr18:30349111-30349161	Jurkat	blood:	n/a
12	chr18:30349111-30349161	T-47D	breast:	n/a
13	chr18:30349111-30349161	Hela-S3	cervix:	n/a
14	chr18:30349111-30349161	NB4	blood:	n/a
15	chr18:30349111-30349161	ProgFib	skin:	n/a
16	chr18:30349111-30349161	MCF10A-Er-Src	breast:	n/a
17	chr18:30349111-30349161	Caco-2	colon:	n/a
18	chr18:30349111-30349161	AG09319	gingival:	n/a
19	chr18:30349111-30349161	H1-hESC	embryonic stem cell:	embryo
20	chr18:30349111-30349161	LNCaP	prostate:	n/a
21	chr18:30349111-30349161	AG10803	skin:	n/a
22	chr18:30349111-30349161	AG09309	skin:	n/a
23	chr18:30349111-30349161	GM12891	blood:	n/a
24	chr18:30349111-30349161	HRE	kidney:	n/a
25	chr18:30349111-30349161	NHDF-neo	bronchial:	n/a
26	chr18:30349111-30349161	GM12892	blood:	n/a
27	chr18:30349111-30349161	ECC-1	luminal epithelium:	n/a
28	chr18:30349111-30349161	HEEpiC	esophagus:	n/a
29	chr18:30349111-30349161	NT2-D1	testis:	n/a
30	chr18:30349111-30349161	HL-60	blood:	n/a
31	chr18:30349111-30349161	SAEC	small airway:	n/a
32	chr18:30349111-30349161	GM19239	blood:	n/a
33	chr18:30349111-30349161	HCF	heart:	n/a
34	chr18:30349111-30349161	SK-N-SH_RA	brain:	n/a
35	chr18:30349111-30349161	ovcar-3	ovarian:	n/a
36	chr18:30349111-30349161	BJ	skin:	n/a
37	chr18:30349111-30349161	PrEC	prostate:	n/a
38	chr18:30349111-30349161	HRCEpiC	kidney:	n/a
39	chr18:30349111-30349161	HCM	heart:	n/a
40	chr18:30349111-30349161	HCT-116	colon:	n/a
41	chr18:30349111-30349161	U87	brain:	n/a
42	chr18:30349111-30349161	Hepatocyte	liver:	n/a
43	chr18:30349111-30349161	A549	lung:	n/a
44	chr18:30349111-30349161	IMR90	lung:	fetal
45	chr18:30349111-30349161	SKMC	muscle:	n/a
46	chr18:30349111-30349161	GM06990	blood:	n/a
47	chr18:30349111-30349161	HCPEpiC	choroid plexus:	n/a
48	chr18:30349111-30349161	HNPCEpiC	eye:	n/a
49	chr18:30349111-30349161	BE2_C	brain:	n/a
50	chr18:30349111-30349161	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:30348555..30351173-chr18:30358732..30360847,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228835	TF binding region
ENSG00000228835	CpG island
ENSG00000243355	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12232690	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12606529	0.83[ASW][hapmap]
rs1523576	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17738786	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17851892	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62092151	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7232060	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7234849	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7241727	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8086995	0.81[AMR][1000 genomes]
rs9946321	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9954239	0.92[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8084642	STK10	trans	cerebellum	SCAN
rs8084642	KLHL14	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30345800-30349600	Weak transcription	Right Atrium	heart
2	chr18:30347200-30349200	Active TSS	Fetal Brain Female	brain
3	chr18:30348000-30350000	Flanking Active TSS	Primary B cells from peripheral blood	blood
4	chr18:30348400-30349400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:30348400-30349400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
6	chr18:30348400-30349400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr18:30348800-30349200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr18:30348800-30349200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr18:30348800-30349200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:30348800-30349200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:30348800-30349400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr18:30348800-30349400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr18:30348800-30349400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr18:30348800-30349400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr18:30348800-30349800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:30348800-30350200	Bivalent/Poised TSS	HepG2	liver
17	chr18:30348800-30351000	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr18:30348800-30353600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr18:30349000-30349200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
20	chr18:30349000-30349200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:30349000-30349200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:30349000-30349400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:30349000-30349400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
24	chr18:30349000-30349400	Bivalent/Poised TSS	Fetal Brain Male	brain
25	chr18:30349000-30349600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:30349000-30349600	Active TSS	Primary B cells from cord blood	blood
27	chr18:30349000-30350000	Active TSS	Spleen	Spleen
28	chr18:30349000-30350200	Bivalent/Poised TSS	Fetal Kidney	kidney

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