Variant report

Variant	rs11564764
Chromosome Location	chr5:1405806-1405807
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:4)
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	chr5:1405774-1405824	ECC-1	luminal epithelium:	n/a
2	chr5:1405774-1405824	HCF	heart:	n/a
3	chr5:1405774-1405824	Hepatocyte	liver:	n/a
4	chr5:1405774-1405824	U87	brain:	n/a
5	chr5:1405774-1405824	SK-N-MC	brain:	n/a
6	chr5:1405774-1405824	SK-N-SH	brain:	n/a
7	chr5:1405774-1405824	GM19239	blood:	n/a
8	chr5:1405774-1405824	PFSK-1	brain:	n/a
9	chr5:1405774-1405824	NHBE	bronchial:	n/a
10	chr5:1405774-1405824	MCF-7	breast:	n/a
11	chr5:1405774-1405824	SKMC	muscle:	n/a
12	chr5:1405774-1405824	MCF10A-Er-Src	breast:	n/a
13	chr5:1405774-1405824	HNPCEpiC	eye:	n/a
14	chr5:1405774-1405824	HCPEpiC	choroid plexus:	n/a
15	chr5:1405774-1405824	HEEpiC	esophagus:	n/a
16	chr5:1405774-1405824	HRE	kidney:	n/a
17	chr5:1405774-1405824	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:1405774-1405824	Caco-2	colon:	n/a
19	chr5:1405774-1405824	HCT-116	colon:	n/a
20	chr5:1405774-1405824	H1-hESC	embryonic stem cell:	embryo
21	chr5:1405774-1405824	GM12878	blood:	n/a
22	chr5:1405774-1405824	SK-N-SH_RA	brain:	n/a
23	chr5:1405774-1405824	BJ	skin:	n/a
24	chr5:1405774-1405824	HAEpiC	amniotic membrane:	n/a
25	chr5:1405774-1405824	AG09319	gingival:	n/a
26	chr5:1405774-1405824	AG04449	skin:	fetal
27	chr5:1405774-1405824	BE2_C	brain:	n/a
28	chr5:1405774-1405824	AG04450	lung:	fetal
29	chr5:1405774-1405824	HL-60	blood:	n/a
30	chr5:1405774-1405824	K562	blood:	n/a
31	chr5:1405774-1405824	HEK293	kidney:	embryo
32	chr5:1405774-1405824	GM12892	blood:	n/a
33	chr5:1405774-1405824	ProgFib	skin:	n/a
34	chr5:1405774-1405824	PrEC	prostate:	n/a
35	chr5:1405774-1405824	NT2-D1	testis:	n/a
36	chr5:1405774-1405824	GM12891	blood:	n/a
37	chr5:1405774-1405824	NB4	blood:	n/a
38	chr5:1405774-1405824	CMK	blood:	n/a
39	chr5:1405774-1405824	GM06990	blood:	n/a
40	chr5:1405774-1405824	SAEC	small airway:	n/a
41	chr5:1405774-1405824	AoSMC	blood vessel:	n/a
42	chr5:1405774-1405824	HMEC	breast:	n/a
43	chr5:1405774-1405824	HUVEC	blood vessel:	n/a
44	chr5:1405774-1405824	Jurkat	blood:	n/a
45	chr5:1405774-1405824	AG09309	skin:	n/a
46	chr5:1405774-1405824	A549	lung:	n/a
47	chr5:1405774-1405824	IMR90	lung:	fetal
48	chr5:1405774-1405824	ovcar-3	ovarian:	n/a
49	chr5:1405774-1405824	NH-A	brain:	n/a
50	chr5:1405774-1405824	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:1403700..1406168-chr5:1408661..1411509,2	MCF-7	breast:
2	chr5:1158190..1160949-chr5:1405134..1407664,2	K562	blood:
3	chr5:1401535..1404790-chr5:1404864..1406555,3	MCF-7	breast:
4	chr5:1404571..1406990-chr5:1408962..1411228,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC6A3	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11133768	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11564763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11564765	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11564766	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11564767	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs11564768	1.00[EUR][1000 genomes]
rs11564769	0.83[EUR][1000 genomes]
rs11564770	0.83[EUR][1000 genomes]
rs11564771	0.83[EUR][1000 genomes]
rs11564772	0.83[EUR][1000 genomes]
rs11564773	0.81[EUR][1000 genomes]
rs2245660	0.94[EUR][1000 genomes]
rs28363119	1.00[EUR][1000 genomes]
rs6869645	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6876225	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][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	nsv533223	chr5:924201-1544459	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv917123	chr5:965332-1528792	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv1023100	chr5:1149132-1558039	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv537604	chr5:1149132-1558039	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv880847	chr5:1192587-1423905	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1033213	chr5:1198042-1483573	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv537605	chr5:1198042-1483573	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv880418	chr5:1286516-1473977	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv830187	chr5:1318106-1509826	Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv482682	chr5:1324469-1487909	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv881312	chr5:1376161-1429969	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv880311	chr5:1377172-1429969	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv881664	chr5:1377172-1594879	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv880670	chr5:1381260-1435893	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1405400-1406000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:1405800-1406000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:1405800-1406200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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