Variant report

Variant	rs10994860
Chromosome Location	chr10:52645424-52645425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr10:52645195-52645609	HepG2	liver:	n/a	n/a
2	FOXA2	chr10:52645288-52645584	HepG2	liver:	n/a	n/a
3	FOXA1	chr10:52645214-52645576	HepG2	liver:	n/a	n/a
4	SP1	chr10:52645223-52645601	HepG2	liver:	n/a	n/a
5	EP300	chr10:52645274-52645618	HepG2	liver:	n/a	n/a
6	HDAC2	chr10:52645196-52645527	HepG2	liver:	n/a	chr10:52645314-52645328
7	CREB1	chr10:52645130-52645677	HepG2	liver:	n/a	n/a
8	EP300	chr10:52645204-52645595	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:52645232-52645517	HepG2	liver:	n/a	n/a
10	HNF4A	chr10:52645346-52645556	HepG2	liver:	n/a	n/a
11	RXRA	chr10:52645310-52645569	HepG2	liver:	n/a	chr10:52645534-52645556
12	NFIC	chr10:52645167-52645578	HepG2	liver:	n/a	n/a
13	CEBPB	chr10:52645354-52645606	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:52644725-52645573	HepG2	liver:	n/a	n/a
15	TBP	chr10:52644917-52645585	HepG2	liver:	n/a	n/a
16	HEY1	chr10:52645166-52645661	HepG2	liver:	n/a	n/a
17	POLR2A	chr10:52645215-52645544	HepG2	liver:	n/a	n/a
18	MXI1	chr10:52645193-52645553	HepG2	liver:	n/a	n/a
19	FOXA1	chr10:52645271-52645588	HepG2	liver:	n/a	n/a
20	ELF1	chr10:52645174-52645564	HepG2	liver:	n/a	n/a
21	NFIC	chr10:52644978-52645725	HepG2	liver:	n/a	n/a
22	POLR2A	chr10:52645192-52645508	HepG2	liver:	n/a	n/a
23	CEBPB	chr10:52645342-52645581	HepG2	liver:	n/a	n/a
24	HNF4G	chr10:52645211-52645593	HepG2	liver:	n/a	n/a
25	ARID3A	chr10:52645044-52645673	HepG2	liver:	n/a	n/a
26	MYBL2	chr10:52645078-52645545	HepG2	liver:	n/a	n/a
27	FOXA1	chr10:52644993-52645974	HepG2	liver:	n/a	chr10:52645578-52645590
28	HEY1	chr10:52645215-52645520	HepG2	liver:	n/a	n/a
29	ELF1	chr10:52645215-52645498	HepG2	liver:	n/a	n/a
30	POLR2A	chr10:52645227-52645509	HepG2	liver:	n/a	n/a
31	POLR2A	chr10:52645280-52645453	HepG2	liver:	n/a	n/a
32	TEAD4	chr10:52645162-52645708	HepG2	liver:	n/a	n/a
33	POLR2A	chr10:52645127-52645583	HepG2	liver:	n/a	n/a
34	HNF4A	chr10:52645178-52645617	HepG2	liver:	n/a	n/a
35	MYBL2	chr10:52645106-52645728	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:52645399-52645449	MCF10A-Er-Src	breast:	n/a
2	chr10:52645408-52645458	IMR90	lung:	fetal
3	chr10:52645399-52645449	GM06990	blood:	n/a
4	chr10:52645399-52645449	GM12891	blood:	n/a
5	chr10:52645408-52645458	BE2_C	brain:	n/a
6	chr10:52645399-52645449	ECC-1	luminal epithelium:	n/a
7	chr10:52645408-52645458	HPAEpiC	pulmonary alveolar:	n/a
8	chr10:52645399-52645449	SK-N-MC	brain:	n/a
9	chr10:52645408-52645458	NH-A	brain:	n/a
10	chr10:52645399-52645449	HRCEpiC	kidney:	n/a
11	chr10:52645399-52645449	HCPEpiC	choroid plexus:	n/a
12	chr10:52645408-52645458	HRE	kidney:	n/a
13	chr10:52645399-52645449	HAEpiC	amniotic membrane:	n/a
14	chr10:52645408-52645458	HEK293	kidney:	embryo
15	chr10:52645408-52645458	Hepatocyte	liver:	n/a
16	chr10:52645408-52645458	HEEpiC	esophagus:	n/a
17	chr10:52645408-52645458	ovcar-3	ovarian:	n/a
18	chr10:52645399-52645449	NH-A	brain:	n/a
19	chr10:52645399-52645449	AG10803	skin:	n/a
20	chr10:52645408-52645458	MCF10A-Er-Src	breast:	n/a
21	chr10:52645408-52645458	PFSK-1	brain:	n/a
22	chr10:52645399-52645449	HIPEpiC	eye:	n/a
23	chr10:52645408-52645458	HRPEpiC	eye:	n/a
24	chr10:52645408-52645458	GM12891	blood:	n/a
25	chr10:52645399-52645449	HCT-116	colon:	n/a
26	chr10:52645399-52645449	NHDF-neo	bronchial:	n/a
27	chr10:52645408-52645458	GM06990	blood:	n/a
28	chr10:52645399-52645449	AG09319	gingival:	n/a
29	chr10:52645399-52645449	HEK293	kidney:	embryo
30	chr10:52645408-52645458	ECC-1	luminal epithelium:	n/a
31	chr10:52645399-52645449	GM12878	blood:	n/a
32	chr10:52645408-52645458	AG09319	gingival:	n/a
33	chr10:52645408-52645458	BJ	skin:	n/a
34	chr10:52645408-52645458	A549	lung:	n/a
35	chr10:52645399-52645449	AG04450	lung:	fetal
36	chr10:52645399-52645449	U87	brain:	n/a
37	chr10:52645408-52645458	NHBE	bronchial:	n/a
38	chr10:52645399-52645449	ProgFib	skin:	n/a
39	chr10:52645408-52645458	AG04450	lung:	fetal
40	chr10:52645408-52645458	HUVEC	blood vessel:	n/a
41	chr10:52645399-52645449	HPAEpiC	pulmonary alveolar:	n/a
42	chr10:52645408-52645458	HL-60	blood:	n/a
43	chr10:52645399-52645449	Jurkat	blood:	n/a
44	chr10:52645399-52645449	AG09309	skin:	n/a
45	chr10:52645399-52645449	AoSMC	blood vessel:	n/a
46	chr10:52645408-52645458	HNPCEpiC	eye:	n/a
47	chr10:52645408-52645458	SAEC	small airway:	n/a
48	chr10:52645408-52645458	HepG2	liver:	n/a
49	chr10:52645399-52645449	HCF	heart:	n/a
50	chr10:52645408-52645458	U87	brain:	n/a

No data

Variant related genes	Relation type
A1CF	TF binding region
A1CF	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10821871	0.83[CEU][hapmap];0.84[MEX][hapmap]
rs10821877	0.86[YRI][hapmap]
rs10821905	0.94[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821907	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10994720	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs10994856	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11815391	0.83[CEU][hapmap];0.84[MEX][hapmap]
rs12768968	0.83[YRI][hapmap]
rs28621957	0.97[ASN][1000 genomes]
rs35182775	0.97[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10994860	ASAH2B	cis	lung	GTEx
rs10994860	ERCC6	cis	parietal	SCAN
rs10994860	ASAH2B	cis	Esophagus Mucosa	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52631400-52646600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:52642400-52645600	Active TSS	HepG2	liver
3	chr10:52642400-52646400	Weak transcription	Small Intestine	intestine
4	chr10:52642600-52645800	Active TSS	Liver	Liver
5	chr10:52643000-52645600	Active TSS	Fetal Intestine Large	intestine
6	chr10:52643200-52645600	Active TSS	Fetal Intestine Small	intestine
7	chr10:52643400-52646000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:52643600-52645800	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr10:52644600-52646400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:52645000-52645600	Active TSS	Pancreas	Pancrea
11	chr10:52645400-52645600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:52645400-52646600	Weak transcription	Rectal Mucosa Donor 29	rectum

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