Variant report

Variant	rs7261873
Chromosome Location	chr20:1390349-1390350
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1388186..1390453-chr20:1399929..1402694,2	K562	blood:
2	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
3	chr20:1374791..1377395-chr20:1388884..1390483,2	K562	blood:
4	chr20:1389651..1392477-chr20:1392965..1396440,4	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs6074595	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6074596	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6074597	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6074598	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6079033	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67138747	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7263236	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7263501	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7271023	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7271027	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7272487	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7272681	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv432095	chr20:1382500-1420340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv994443	chr20:1385239-1392933	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1819763	chr20:1386940-1390683	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv1834375	chr20:1386940-1390683	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv1817885	chr20:1386940-1400227	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3453894	chr20:1387152-1392750	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv1815191	chr20:1387658-1390682	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv1819996	chr20:1387658-1390682	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv1835632	chr20:1387658-1390682	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	esv1841302	chr20:1387658-1390682	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv1847243	chr20:1387658-1390682	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv1849807	chr20:1387658-1390682	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv3497599	chr20:1387952-1391950	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv585207	chr20:1388312-1390683	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	esv3453893	chr20:1388377-1392125	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv3497597	chr20:1388427-1391875	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	esv1816267	chr20:1388576-1390682	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	esv1821525	chr20:1388576-1390682	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	esv1836898	chr20:1388576-1390682	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	esv1840112	chr20:1388576-1390682	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	esv1851509	chr20:1388576-1390682	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	nsv511624	chr20:1388576-1391436	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
25	nsv820225	chr20:1388884-1393659	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	esv5984	chr20:1388890-1391032	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
27	esv3453891	chr20:1388902-1391350	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
28	nsv828663	chr20:1388947-1390798	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
29	nsv512600	chr20:1388950-1390832	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
30	esv3453899	chr20:1389016-1390920	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
31	esv3497591	chr20:1389046-1390921	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
32	esv3497592	chr20:1389050-1390920	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
33	esv3497595	chr20:1389060-1390851	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
34	esv3453895	chr20:1389069-1390886	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
35	esv3453896	chr20:1389076-1390899	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
36	esv3453892	chr20:1389080-1390842	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
37	esv3497594	chr20:1389086-1390865	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
38	esv3497598	chr20:1389091-1390852	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
39	esv3411258	chr20:1389106-1390835	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv4420	chr20:1389115-1390956	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv3453898	chr20:1389129-1390820	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv3497593	chr20:1389135-1390827	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv179088	chr20:1389144-1390814	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
44	esv3453900	chr20:1389144-1390818	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	esv3497600	chr20:1389144-1390818	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	esv19462	chr20:1389176-1390798	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv820679	chr20:1389176-1390798	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv585208	chr20:1389773-1390430	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv585209	chr20:1389773-1390683	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
50	esv1793298	chr20:1389773-1391436	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1383800-1396000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr20:1384400-1395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:1384400-1396000	Weak transcription	HMEC	breast
4	chr20:1389000-1396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr20:1389200-1396400	Weak transcription	Placenta	Placenta
6	chr20:1390200-1390600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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