Variant report

Variant	rs6132617
Chromosome Location	chr20:23420151-23420152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23420109-23420159	MCF-7	breast:	n/a
2	chr20:23420109-23420159	Hepatocyte	liver:	n/a
3	chr20:23420109-23420159	GM12891	blood:	n/a
4	chr20:23420121-23420171	HepG2	liver:	n/a
5	chr20:23420121-23420171	IMR90	lung:	fetal
6	chr20:23420121-23420171	ECC-1	luminal epithelium:	n/a
7	chr20:23420109-23420159	HEK293	kidney:	embryo
8	chr20:23420121-23420171	AoSMC	blood vessel:	n/a
9	chr20:23420121-23420171	T-47D	breast:	n/a
10	chr20:23420121-23420171	MCF-7	breast:	n/a
11	chr20:23420109-23420159	HL-60	blood:	n/a
12	chr20:23420109-23420159	HIPEpiC	eye:	n/a
13	chr20:23420121-23420171	CMK	blood:	n/a
14	chr20:23420109-23420159	HAEpiC	amniotic membrane:	n/a
15	chr20:23420121-23420171	BJ	skin:	n/a
16	chr20:23420109-23420159	AoSMC	blood vessel:	n/a
17	chr20:23420109-23420159	HepG2	liver:	n/a
18	chr20:23420109-23420159	HCM	heart:	n/a
19	chr20:23420121-23420171	NB4	blood:	n/a
20	chr20:23420121-23420171	BE2_C	brain:	n/a
21	chr20:23420121-23420171	MCF10A-Er-Src	breast:	n/a
22	chr20:23420109-23420159	CMK	blood:	n/a
23	chr20:23420121-23420171	HEK293	kidney:	embryo
24	chr20:23420109-23420159	ECC-1	luminal epithelium:	n/a
25	chr20:23420109-23420159	HPAEpiC	pulmonary alveolar:	n/a
26	chr20:23420121-23420171	Hela-S3	cervix:	n/a
27	chr20:23420109-23420159	SK-N-SH	brain:	n/a
28	chr20:23420121-23420171	ovcar-3	ovarian:	n/a
29	chr20:23420109-23420159	HCT-116	colon:	n/a
30	chr20:23420121-23420171	HRE	kidney:	n/a
31	chr20:23420121-23420171	PANC-1	pancreas:	n/a
32	chr20:23420121-23420171	HCM	heart:	n/a
33	chr20:23420121-23420171	NHDF-neo	bronchial:	n/a
34	chr20:23420109-23420159	U87	brain:	n/a
35	chr20:23420121-23420171	GM12892	blood:	n/a
36	chr20:23420121-23420171	NH-A	brain:	n/a
37	chr20:23420121-23420171	Jurkat	blood:	n/a
38	chr20:23420109-23420159	SKMC	muscle:	n/a
39	chr20:23420109-23420159	BJ	skin:	n/a
40	chr20:23420109-23420159	ovcar-3	ovarian:	n/a
41	chr20:23420121-23420171	HRPEpiC	eye:	n/a
42	chr20:23420109-23420159	HRE	kidney:	n/a
43	chr20:23420121-23420171	GM19239	blood:	n/a
44	chr20:23420121-23420171	HNPCEpiC	eye:	n/a
45	chr20:23420109-23420159	AG09319	gingival:	n/a
46	chr20:23420121-23420171	Caco-2	colon:	n/a
47	chr20:23420109-23420159	MCF10A-Er-Src	breast:	n/a
48	chr20:23420121-23420171	HCT-116	colon:	n/a
49	chr20:23420121-23420171	AG10803	skin:	n/a
50	chr20:23420121-23420171	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23342185..23344395-chr20:23415797..23420151,3	K562	blood:

No data

Variant related genes	Relation type
CSTL1	CpG island
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1076776	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12106211	1.00[YRI][hapmap]
rs12625164	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16985269	1.00[YRI][hapmap]
rs16985333	1.00[YRI][hapmap]
rs16985354	1.00[YRI][hapmap]
rs17757228	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17757442	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17830281	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1936011	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2277765	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281428	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2281434	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295238	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34648279	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736755	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3746733	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3746737	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3761274	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3761275	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3827085	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3827086	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55851398	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56094936	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56334525	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6132599	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6132600	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6132605	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6132606	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6132609	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6132610	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137901	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6137907	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137910	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137913	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137914	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137915	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137917	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6137919	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6137920	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6137927	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137929	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137930	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137931	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137936	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6137937	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6137938	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137939	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137941	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6137945	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137947	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137948	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137950	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137951	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7272812	1.00[YRI][hapmap]
rs761722	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8183135	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr20:23417000-23422800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23417200-23434800	Weak transcription	Gastric	stomach
3	chr20:23417600-23422400	Weak transcription	Brain Anterior Caudate	brain
4	chr20:23417800-23441000	Weak transcription	Right Atrium	heart

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