Variant report

Variant	rs314785
Chromosome Location	chr5:28883343-28883344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:28808352..28811830-chr5:28882168..28885526,3	K562	blood:
2	chr5:28882757..28885638-chr5:28890766..28893255,2	K562	blood:

Variant related genes	Relation type
ENSG00000250453	Chromatin interaction
ENSG00000270495	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10057056	0.87[ASN][1000 genomes]
rs10461852	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1587623	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1587627	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16874344	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898129	0.89[ASN][1000 genomes]
rs16898140	0.87[ASN][1000 genomes]
rs16898181	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16898182	0.98[ASN][1000 genomes]
rs16898405	0.85[ASN][1000 genomes]
rs16898408	0.85[ASN][1000 genomes]
rs16898409	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898411	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898412	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898415	0.85[ASN][1000 genomes]
rs16898418	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898420	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898424	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898425	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898427	0.85[ASN][1000 genomes]
rs16898430	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898510	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898522	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898524	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898527	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898530	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898537	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898541	1.00[AMR][1000 genomes]
rs16898545	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898547	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898549	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898550	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16898551	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16898552	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs170257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17617368	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1818122	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs182611	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs184349	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs188783	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2115195	0.93[ASN][1000 genomes]
rs2173972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs221519	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2554912	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs312653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs312654	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs312655	0.87[ASN][1000 genomes]
rs312657	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs312659	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs312663	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs312664	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs312665	0.96[ASN][1000 genomes]
rs312668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs312669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs312672	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs314795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs314796	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs314797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs314799	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs314800	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs314802	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs314803	0.89[ASN][1000 genomes]
rs314804	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs314813	0.89[ASN][1000 genomes]
rs314817	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs314822	0.89[ASN][1000 genomes]
rs314825	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs314826	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs314827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs314834	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3792899	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs413031	0.96[ASN][1000 genomes]
rs455448	0.89[ASN][1000 genomes]
rs457561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs463497	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60041854	0.83[ASN][1000 genomes]
rs66698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs66701	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs694336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs923628	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026700	chr5:28067287-28978638	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv537707	chr5:28067287-28978638	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1029219	chr5:28370908-29086506	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv537710	chr5:28370908-29086506	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv880822	chr5:28498983-28959648	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv880917	chr5:28625380-28902826	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv462027	chr5:28707892-28986950	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv597712	chr5:28707892-28986950	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv881229	chr5:28739011-28921260	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv880313	chr5:28779357-28915911	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1033770	chr5:28782845-28897933	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv880743	chr5:28786844-28902826	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv880470	chr5:28786844-28921260	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv880374	chr5:28786844-28955799	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv881575	chr5:28786844-28979728	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv881649	chr5:28786844-29007308	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv881344	chr5:28786844-29017460	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv880855	chr5:28786844-29129027	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv462046	chr5:28806256-28902826	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv462047	chr5:28806256-28902826	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv597729	chr5:28806256-28902826	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv471008	chr5:28806256-28915911	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv881250	chr5:28806256-28915911	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv881525	chr5:28806256-28921260	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv462048	chr5:28806256-28970173	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv462049	chr5:28806256-28970173	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv597730	chr5:28806256-28970173	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv462051	chr5:28806256-28977674	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv597731	chr5:28806256-28977674	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
30	nsv462052	chr5:28806256-28986950	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
31	nsv462053	chr5:28806256-28986950	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
32	nsv462054	chr5:28806256-28986950	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
33	nsv597732	chr5:28806256-28986950	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
34	nsv881674	chr5:28806256-29007308	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
35	nsv880318	chr5:28806256-29017460	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
36	nsv880410	chr5:28806256-29017460	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
37	nsv462071	chr5:28811789-28902826	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
38	nsv597738	chr5:28811789-28902826	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
39	nsv462072	chr5:28811789-28986950	Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
40	nsv462074	chr5:28811789-28986950	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
41	nsv597739	chr5:28811789-28986950	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
42	nsv881224	chr5:28815962-28927036	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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