Variant report

Variant	rs2554912
Chromosome Location	chr5:28822701-28822702
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:28811938..28814493-chr5:28819966..28823203,3	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10057056	0.85[ASN][1000 genomes]
rs10461852	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1587623	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1587627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16874344	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16898129	0.91[ASN][1000 genomes]
rs16898140	0.89[ASN][1000 genomes]
rs16898181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16898182	1.00[ASN][1000 genomes]
rs16898405	0.83[ASN][1000 genomes]
rs16898408	0.83[ASN][1000 genomes]
rs16898409	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16898411	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16898412	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16898415	0.83[ASN][1000 genomes]
rs16898418	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16898420	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16898424	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16898425	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16898427	0.83[ASN][1000 genomes]
rs16898430	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs170257	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17617368	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1818122	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs182611	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs184349	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs188783	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2115195	0.91[ASN][1000 genomes]
rs2173972	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs221519	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs312653	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs312654	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs312655	0.85[ASN][1000 genomes]
rs312657	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs312659	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs312663	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs312664	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs312665	0.98[ASN][1000 genomes]
rs312668	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs312669	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs312672	0.93[ASN][1000 genomes]
rs314785	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs314795	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs314796	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs314797	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs314799	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs314800	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs314802	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs314803	0.87[ASN][1000 genomes]
rs314804	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs314813	0.87[ASN][1000 genomes]
rs314817	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs314822	0.87[ASN][1000 genomes]
rs314825	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs314826	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs314827	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs314834	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3792899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs413031	0.93[ASN][1000 genomes]
rs455448	0.87[ASN][1000 genomes]
rs457561	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs463497	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60041854	0.81[ASN][1000 genomes]
rs66698	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs66701	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs694336	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs923628	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

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	nsv432730	chr5:28551143-28829943	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	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
8	nsv880802	chr5:28682246-28853116	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	nsv881313	chr5:28763652-28862551	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv462029	chr5:28763652-28870503	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv462030	chr5:28763652-28870503	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv597713	chr5:28763652-28870503	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv597714	chr5:28763652-28874113	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv597715	chr5:28779357-28868463	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv597716	chr5:28786844-28855283	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv880903	chr5:28786844-28862551	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv597717	chr5:28786844-28869165	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv881414	chr5:28786844-28874113	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	nsv881081	chr5:28787380-28862551	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv462031	chr5:28792713-28841945	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	nsv597718	chr5:28792713-28841945	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv462032	chr5:28792713-28853116	Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv597719	chr5:28792713-28853116	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
36	esv1805786	chr5:28792713-28874113	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
37	nsv462033	chr5:28792713-28874113	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
38	nsv597720	chr5:28792713-28874113	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
39	esv1812910	chr5:28792713-28877116	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
40	nsv462034	chr5:28792713-28877116	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	nsv597721	chr5:28792713-28877116	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
42	nsv515023	chr5:28795803-28871795	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
43	nsv597722	chr5:28806256-28841945	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
44	nsv597723	chr5:28806256-28855283	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
45	nsv462035	chr5:28806256-28865813	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
46	nsv597724	chr5:28806256-28865813	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
47	nsv462036	chr5:28806256-28869165	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
48	nsv462037	chr5:28806256-28869165	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
49	nsv597725	chr5:28806256-28869165	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
50	nsv462038	chr5:28806256-28870503	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28822200-28822800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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