Variant report

Variant	rs4621472
Chromosome Location	chr4:44987146-44987147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10000940	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10001739	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10003579	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10003776	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10003984	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10004173	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10006643	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10009882	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10031439	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10034588	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10433683	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10433684	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10461061	0.85[ASN][1000 genomes]
rs10938372	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10938378	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11723797	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11726237	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11727488	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11730391	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11734842	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12501461	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12502784	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12503075	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12504288	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12505440	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12509759	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12512128	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12512173	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12512921	0.88[ASN][1000 genomes]
rs12513234	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13114174	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13123198	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13123623	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13125752	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13143643	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13145245	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1390915	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1390923	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1497000	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1497003	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1948587	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28683174	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28712193	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2882027	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34298665	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34398887	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34625281	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34725881	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35739449	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4264865	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4267770	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4280774	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4312794	0.81[EUR][1000 genomes]
rs4377625	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4410559	0.88[EUR][1000 genomes]
rs4431264	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4447894	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4456993	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4464602	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4467605	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4481265	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4492035	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4558900	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4560452	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4571371	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4580687	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4629490	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4632690	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4635847	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4639112	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4695069	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4695070	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5002959	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62409744	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62411580	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62411584	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6447395	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6447396	0.87[ASN][1000 genomes]
rs6447397	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6447398	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6447399	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6447400	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6447401	0.81[ASN][1000 genomes]
rs6447402	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6820860	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6822744	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6823446	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6823641	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6828498	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6832190	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6839710	0.85[ASN][1000 genomes]
rs6848088	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6848089	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6848542	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6855537	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7655634	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7657077	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7658399	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7677319	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7678059	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7679461	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7682854	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7698277	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7699473	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531944	chr4:44299343-45200700	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1014327	chr4:44735209-45218149	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv878979	chr4:44871931-45102488	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv432591	chr4:44922068-45017576	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv432592	chr4:44932439-45005872	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv432594	chr4:44932945-45033572	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1014721	chr4:44950223-44999607	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv432595	chr4:44951672-45010972	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv432596	chr4:44951672-45037672	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv594098	chr4:44955950-45004987	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv594099	chr4:44955964-45004987	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv1004138	chr4:44956309-45006323	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
13	esv2757056	chr4:44960444-45033572	Enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2759250	chr4:44960444-45033572	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv594100	chr4:44961533-45004987	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv878980	chr4:44961533-45015525	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv878981	chr4:44961533-45018583	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv2763861	chr4:44964479-45011262	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	nsv1007775	chr4:44965184-44991506	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv1005919	chr4:44965184-45006323	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
21	nsv10488	chr4:44965278-45011616	Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	nsv1006132	chr4:44967004-44999607	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
23	nsv1004845	chr4:44967004-45005852	Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
24	nsv1007329	chr4:44967004-45006180	Enhancers Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
25	nsv1009747	chr4:44967004-45006323	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
26	nsv1013463	chr4:44967004-45013835	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv1005572	chr4:44967004-45017576	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv1013324	chr4:44968495-44999607	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
29	nsv998011	chr4:44968495-45006180	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
30	nsv1005217	chr4:44968495-45006323	Enhancers Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
31	esv34200	chr4:44968572-45005872	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
32	esv34309	chr4:44968572-45005872	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
33	esv2752046	chr4:44968572-45005872	Enhancers Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
34	nsv432599	chr4:44968572-45005872	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
35	nsv432597	chr4:44968572-45010972	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
36	esv2752047	chr4:44968572-45072206	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv516124	chr4:44968603-44998994	Strong transcription Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
38	esv2830137	chr4:44968603-45004987	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
39	nsv594101	chr4:44968603-45004987	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
40	nsv594102	chr4:44968603-45007208	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
41	nsv1002121	chr4:44969388-45006323	Strong transcription Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
42	esv34407	chr4:44970482-45005852	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
43	esv2752048	chr4:44970482-45005872	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
44	nsv1001880	chr4:44970482-45006323	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
45	nsv1008257	chr4:44973414-44999607	Enhancers Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
46	nsv594103	chr4:44982938-45004987	Enhancers Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
47	nsv878982	chr4:44982938-45031256	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	nsv878983	chr4:44982938-45039597	Enhancers Weak transcription Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	esv1830314	chr4:44983899-45023201	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 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	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:44985400-44988000	Enhancers	HMEC	breast
3	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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