Variant report

Variant	rs56322731
Chromosome Location	chr7:48352570-48352571
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	chr7:48352531-48352581	HAEpiC	amniotic membrane:	n/a
2	chr7:48352531-48352581	MCF10A-Er-Src	breast:	n/a
3	chr7:48352531-48352581	HRCEpiC	kidney:	n/a
4	chr7:48352531-48352581	AG04449	skin:	fetal
5	chr7:48352531-48352581	Hela-S3	cervix:	n/a
6	chr7:48352531-48352581	ProgFib	skin:	n/a
7	chr7:48352531-48352581	HEK293	kidney:	embryo
8	chr7:48352531-48352581	SAEC	small airway:	n/a
9	chr7:48352531-48352581	CMK	blood:	n/a
10	chr7:48352531-48352581	GM06990	blood:	n/a
11	chr7:48352531-48352581	HL-60	blood:	n/a
12	chr7:48352531-48352581	NH-A	brain:	n/a
13	chr7:48352531-48352581	AG09319	gingival:	n/a
14	chr7:48352531-48352581	A549	lung:	n/a
15	chr7:48352531-48352581	HRE	kidney:	n/a
16	chr7:48352531-48352581	AG10803	skin:	n/a
17	chr7:48352531-48352581	LNCaP	prostate:	n/a
18	chr7:48352531-48352581	ECC-1	luminal epithelium:	n/a
19	chr7:48352531-48352581	GM19239	blood:	n/a
20	chr7:48352531-48352581	NT2-D1	testis:	n/a
21	chr7:48352531-48352581	T-47D	breast:	n/a
22	chr7:48352531-48352581	NHDF-neo	bronchial:	n/a
23	chr7:48352531-48352581	SK-N-SH	brain:	n/a
24	chr7:48352531-48352581	HMEC	breast:	n/a
25	chr7:48352531-48352581	HRPEpiC	eye:	n/a
26	chr7:48352531-48352581	RPTEC	kidney:	n/a
27	chr7:48352531-48352581	PFSK-1	brain:	n/a
28	chr7:48352531-48352581	ovcar-3	ovarian:	n/a
29	chr7:48352531-48352581	SK-N-SH_RA	brain:	n/a
30	chr7:48352531-48352581	HCPEpiC	choroid plexus:	n/a
31	chr7:48352531-48352581	AG04450	lung:	fetal
32	chr7:48352531-48352581	IMR90	lung:	fetal
33	chr7:48352531-48352581	MCF-7	breast:	n/a
34	chr7:48352531-48352581	BJ	skin:	n/a
35	chr7:48352531-48352581	NHBE	bronchial:	n/a
36	chr7:48352531-48352581	SK-N-MC	brain:	n/a
37	chr7:48352531-48352581	Jurkat	blood:	n/a
38	chr7:48352531-48352581	HIPEpiC	eye:	n/a
39	chr7:48352531-48352581	HNPCEpiC	eye:	n/a
40	chr7:48352531-48352581	BE2_C	brain:	n/a
41	chr7:48352531-48352581	PrEC	prostate:	n/a
42	chr7:48352531-48352581	HCT-116	colon:	n/a
43	chr7:48352531-48352581	GM12891	blood:	n/a
44	chr7:48352531-48352581	H1-hESC	embryonic stem cell:	embryo
45	chr7:48352531-48352581	HCM	heart:	n/a
46	chr7:48352531-48352581	GM12878	blood:	n/a
47	chr7:48352531-48352581	Caco-2	colon:	n/a
48	chr7:48352531-48352581	HEEpiC	esophagus:	n/a
49	chr7:48352531-48352581	NB4	blood:	n/a
50	chr7:48352531-48352581	HCF	heart:	n/a

No data

Variant related genes	Relation type
ABCA13	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10248040	0.82[ASN][1000 genomes]
rs17661645	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712567	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17712573	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712584	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712671	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1997123	0.82[ASN][1000 genomes]
rs4260852	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943279	0.82[ASN][1000 genomes]
rs7811035	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1032135	chr7:48293104-48414154	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr7:48319800-48382200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48349600-48352800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:48349800-48352600	Enhancers	HMEC	breast
4	chr7:48350800-48358000	Strong transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links