Variant report

Variant	rs4245604
Chromosome Location	chr10:43866528-43866529
allele	A/C
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:1)
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	chr10:43866484-43866534	GM12892	blood:	n/a
2	chr10:43866484-43866534	AoSMC	blood vessel:	n/a
3	chr10:43866484-43866534	CMK	blood:	n/a
4	chr10:43866484-43866534	ProgFib	skin:	n/a
5	chr10:43866484-43866534	K562	blood:	n/a
6	chr10:43866484-43866534	PFSK-1	brain:	n/a
7	chr10:43866484-43866534	NT2-D1	testis:	n/a
8	chr10:43866484-43866534	MCF10A-Er-Src	breast:	n/a
9	chr10:43866484-43866534	GM19239	blood:	n/a
10	chr10:43866484-43866534	NB4	blood:	n/a
11	chr10:43866484-43866534	U87	brain:	n/a
12	chr10:43866484-43866534	T-47D	breast:	n/a
13	chr10:43866484-43866534	AG04450	lung:	fetal
14	chr10:43866484-43866534	HRE	kidney:	n/a
15	chr10:43866484-43866534	RPTEC	kidney:	n/a
16	chr10:43866484-43866534	AG04449	skin:	fetal
17	chr10:43866484-43866534	SKMC	muscle:	n/a
18	chr10:43866484-43866534	H1-hESC	embryonic stem cell:	embryo
19	chr10:43866484-43866534	NHDF-neo	bronchial:	n/a
20	chr10:43866484-43866534	HIPEpiC	eye:	n/a
21	chr10:43866484-43866534	SK-N-SH	brain:	n/a
22	chr10:43866484-43866534	HCM	heart:	n/a
23	chr10:43866484-43866534	LNCaP	prostate:	n/a
24	chr10:43866484-43866534	AG10803	skin:	n/a
25	chr10:43866484-43866534	SK-N-MC	brain:	n/a
26	chr10:43866484-43866534	HL-60	blood:	n/a
27	chr10:43866484-43866534	HCPEpiC	choroid plexus:	n/a
28	chr10:43866484-43866534	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:43866484-43866534	HCF	heart:	n/a
30	chr10:43866484-43866534	MCF-7	breast:	n/a
31	chr10:43866484-43866534	SK-N-SH_RA	brain:	n/a
32	chr10:43866484-43866534	GM06990	blood:	n/a
33	chr10:43866484-43866534	A549	lung:	n/a
34	chr10:43866484-43866534	IMR90	lung:	fetal
35	chr10:43866484-43866534	NH-A	brain:	n/a
36	chr10:43866484-43866534	BE2_C	brain:	n/a
37	chr10:43866484-43866534	PrEC	prostate:	n/a
38	chr10:43866484-43866534	PANC-1	pancreas:	n/a
39	chr10:43866484-43866534	Hepatocyte	liver:	n/a
40	chr10:43866484-43866534	GM12878	blood:	n/a
41	chr10:43866484-43866534	Jurkat	blood:	n/a
42	chr10:43866484-43866534	HepG2	liver:	n/a
43	chr10:43866484-43866534	SAEC	small airway:	n/a
44	chr10:43866484-43866534	HRPEpiC	eye:	n/a
45	chr10:43866484-43866534	HEEpiC	esophagus:	n/a
46	chr10:43866484-43866534	Caco-2	colon:	n/a
47	chr10:43866484-43866534	HNPCEpiC	eye:	n/a
48	chr10:43866484-43866534	HEK293	kidney:	embryo
49	chr10:43866484-43866534	AG09319	gingival:	n/a
50	chr10:43866484-43866534	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43858596..43860755-chr10:43865023..43867031,2	K562	blood:

No data

Variant related genes	Relation type
FXYD4	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10899792	0.99[ASN][1000 genomes]
rs10899795	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11238522	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12221341	0.96[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2243492	1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[ASN][1000 genomes]
rs2245413	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2245710	0.99[ASN][1000 genomes]
rs2252744	0.82[ASN][1000 genomes]
rs2252761	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2253263	0.80[ASN][1000 genomes]
rs2493661	0.87[ASN][1000 genomes]
rs3000708	0.98[ASN][1000 genomes]
rs4627023	0.82[ASN][1000 genomes]
rs60789236	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7912358	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised 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	17 gene(s)	inside rSNPs	diseases
5	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv521283	chr10:43866528-43871998	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43858600-43891000	Weak transcription	Right Atrium	heart
2	chr10:43861200-43872400	Weak transcription	Fetal Intestine Small	intestine
3	chr10:43866400-43867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:43866400-43870400	Enhancers	Brain Inferior Temporal Lobe	brain

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