Variant report

Variant	rs71327015
Chromosome Location	chr3:46102173-46102174
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46035149..46036764-chr3:46100668..46103208,2	K562	blood:
2	chr3:46095387..46098200-chr3:46100479..46102760,2	K562	blood:
3	chr3:46100682..46102669-chr3:46103976..46105710,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs12108042	0.82[EUR][1000 genomes]
rs13059238	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13060287	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13063527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13063635	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13066062	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13066516	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13068410	0.82[EUR][1000 genomes]
rs13068570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13069079	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13069742	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071283	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13072267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074382	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13075528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13075758	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13078739	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13079869	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13081151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13081213	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13082697	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13085367	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13089554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13089855	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13090194	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13091868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13093179	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13094262	0.82[EUR][1000 genomes]
rs13095602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13095717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13096741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097556	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13098366	1.00[ASN][1000 genomes]
rs13099120	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13433997	0.87[EUR][1000 genomes]
rs1491950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1491951	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17214952	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17215008	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17215981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17280623	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17282175	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17282238	0.90[AMR][1000 genomes]
rs17330872	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17714101	1.00[AFR][1000 genomes]
rs17714228	1.00[AFR][1000 genomes]
rs17764831	1.00[AFR][1000 genomes]
rs17764980	1.00[AFR][1000 genomes]
rs1994491	1.00[AFR][1000 genomes]
rs1994492	1.00[AFR][1000 genomes]
rs1994493	1.00[AFR][1000 genomes]
rs2088690	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2088692	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2088693	0.82[EUR][1000 genomes]
rs2102055	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2102056	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2171531	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2230322	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2373087	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs33910087	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34000569	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34047915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34068335	1.00[AFR][1000 genomes]
rs34093271	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34127208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34168660	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34283240	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34324101	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34339943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34340587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34381952	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34438204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34442130	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34452002	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34460587	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34492478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34493660	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34518147	1.00[AFR][1000 genomes]
rs34562820	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34584867	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34619093	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34679077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34718164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34754340	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34766614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34774687	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34836513	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34849862	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34863575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34867672	0.82[EUR][1000 genomes]
rs34901975	1.00[AFR][1000 genomes]
rs35028116	0.82[EUR][1000 genomes]
rs35110864	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35159820	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35161099	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35209528	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35280891	1.00[AFR][1000 genomes]
rs35334665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35454877	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35464221	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35477280	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs35501575	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35516580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35525815	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35539222	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35581648	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35669129	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35751180	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35772789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35814488	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35827997	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35831747	0.80[EUR][1000 genomes]
rs35855315	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35883205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35921206	0.93[EUR][1000 genomes]
rs35930050	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35951367	1.00[ASN][1000 genomes]
rs36023124	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36039366	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36040135	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36057789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36122610	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3851346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41289616	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41289622	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4362758	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4373103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4388012	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4683166	0.82[EUR][1000 genomes]
rs55875328	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55920693	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56332428	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60019065	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61556067	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61650989	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67200151	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6780028	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6785091	0.82[EUR][1000 genomes]
rs6790866	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6791016	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67937868	0.88[EUR][1000 genomes]
rs68087193	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71325091	1.00[AFR][1000 genomes]
rs71325092	1.00[AFR][1000 genomes]
rs71325095	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71325096	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71325098	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71325100	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71325101	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71325102	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71327003	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71327006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71327007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71327009	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71327010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71327014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71327023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71327024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71327025	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71327027	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71615437	1.00[AFR][1000 genomes]
rs71615438	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7642320	0.82[EUR][1000 genomes]
rs7652478	0.82[EUR][1000 genomes]
rs876668	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9824651	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825081	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838450	0.94[ASN][1000 genomes]
rs9845382	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9845542	1.00[ASN][1000 genomes]
rs9877748	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46096400-46106200	Weak transcription	Lung	lung
2	chr3:46099000-46105400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46100600-46102600	Weak transcription	Right Atrium	heart
4	chr3:46100800-46102600	Weak transcription	Adipose Nuclei	Adipose
5	chr3:46100800-46103600	Weak transcription	Spleen	Spleen
6	chr3:46101000-46106400	Weak transcription	Primary B cells from cord blood	blood
7	chr3:46101200-46102400	Enhancers	GM12878-XiMat	blood
8	chr3:46101200-46104200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:46101600-46102400	Enhancers	Psoas Muscle	Psoas
10	chr3:46101600-46107000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:46101800-46104200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr3:46102000-46102200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:46102000-46103800	Weak transcription	Fetal Heart	heart

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