Variant report

Variant	rs71322189
Chromosome Location	chr3:23481899-23481900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23477379..23479456-chr3:23479836..23482736,2	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs12106681	0.86[EUR][1000 genomes]
rs13059155	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13059557	0.81[EUR][1000 genomes]
rs13060251	0.86[EUR][1000 genomes]
rs13063451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13065375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13065646	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13066741	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13070136	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13071171	0.98[EUR][1000 genomes]
rs13072325	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13073761	0.95[EUR][1000 genomes]
rs13076412	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13076527	0.95[EUR][1000 genomes]
rs13078970	0.86[EUR][1000 genomes]
rs13082311	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13084870	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13085173	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13085266	0.95[EUR][1000 genomes]
rs13087238	0.92[EUR][1000 genomes]
rs13087563	0.86[EUR][1000 genomes]
rs13088756	1.00[EUR][1000 genomes]
rs13090125	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13090335	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13090633	0.85[EUR][1000 genomes]
rs13091625	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13091634	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13092830	0.88[EUR][1000 genomes]
rs13095737	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13096187	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13098798	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13100499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13100605	0.86[EUR][1000 genomes]
rs34134134	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34171096	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34225647	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34322396	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34443476	0.88[EUR][1000 genomes]
rs34474714	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34504120	0.87[EUR][1000 genomes]
rs34584255	0.86[EUR][1000 genomes]
rs34619482	0.95[EUR][1000 genomes]
rs34732257	0.95[EUR][1000 genomes]
rs34743949	0.89[EUR][1000 genomes]
rs34758087	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34804976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34827773	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34882744	0.97[EUR][1000 genomes]
rs34894979	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34916096	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34916962	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34928966	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34970845	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35021696	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35027557	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35028631	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35055753	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35096750	0.86[EUR][1000 genomes]
rs35105861	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35121170	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35152860	0.98[EUR][1000 genomes]
rs35156003	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35177750	1.00[EUR][1000 genomes]
rs35179250	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35190363	0.95[EUR][1000 genomes]
rs35209889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35218978	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35230557	0.95[EUR][1000 genomes]
rs35240920	0.86[EUR][1000 genomes]
rs35245309	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35266274	0.85[EUR][1000 genomes]
rs35273607	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35314441	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35346188	0.86[EUR][1000 genomes]
rs35347265	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35383024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35402533	0.89[EUR][1000 genomes]
rs35408638	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35497505	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35587590	0.86[EUR][1000 genomes]
rs35649850	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35657558	0.89[EUR][1000 genomes]
rs35776486	0.86[EUR][1000 genomes]
rs35778452	1.00[EUR][1000 genomes]
rs35869522	0.89[EUR][1000 genomes]
rs35902312	0.95[EUR][1000 genomes]
rs35907941	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35928592	0.95[EUR][1000 genomes]
rs35975795	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36021750	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36082634	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36123979	0.86[EUR][1000 genomes]
rs36124326	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36183485	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58522464	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60074421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71317827	0.86[EUR][1000 genomes]
rs71317829	0.86[EUR][1000 genomes]
rs71317834	0.81[EUR][1000 genomes]
rs71322171	0.89[EUR][1000 genomes]
rs71322172	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71322173	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71322174	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71322183	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71322184	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71322185	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71322187	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71322190	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71322195	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71322200	0.91[EUR][1000 genomes]
rs71322201	0.97[EUR][1000 genomes]
rs71322202	0.97[EUR][1000 genomes]
rs71324103	0.88[EUR][1000 genomes]
rs71324104	0.85[EUR][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	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv876624	chr3:23385877-23483536	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv876625	chr3:23390301-23509597	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23472800-23484400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:23472800-23488000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:23473800-23494000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:23477400-23482600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:23477800-23487800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:23478000-23484000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:23478600-23483400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:23478600-23485800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:23478600-23489400	Weak transcription	Left Ventricle	heart
10	chr3:23478800-23482600	Weak transcription	Psoas Muscle	Psoas
11	chr3:23479400-23483800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:23479400-23484800	Weak transcription	Adipose Nuclei	Adipose
13	chr3:23479600-23482200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:23479600-23482400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:23479600-23483600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:23479600-23483600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:23479600-23484200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:23479800-23482800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:23479800-23483800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:23479800-23485600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:23479800-23490200	Weak transcription	Brain Substantia Nigra	brain
22	chr3:23480400-23482800	Enhancers	Primary B cells from cord blood	blood
23	chr3:23480400-23482800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr3:23480600-23482800	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:23480600-23482800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:23480600-23482800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:23480800-23482200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr3:23480800-23482800	Enhancers	Fetal Thymus	thymus
29	chr3:23481000-23482000	Weak transcription	Fetal Heart	heart
30	chr3:23481000-23482200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr3:23481000-23482200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:23481200-23484000	Weak transcription	HUVEC	blood vessel
33	chr3:23481200-23484400	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:23481400-23482200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:23481400-23482400	Enhancers	Dnd41	blood
36	chr3:23481600-23482000	Active TSS	GM12878-XiMat	blood
37	chr3:23481600-23482600	Enhancers	Thymus	Thymus
38	chr3:23481600-23482800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr3:23481800-23482400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr3:23481800-23482400	Enhancers	Primary hematopoietic stem cells	blood
41	chr3:23481800-23482600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:23481800-23482800	Enhancers	Primary T helper cells PMA-I stimulated	--

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