Variant report

Variant	rs521252
Chromosome Location	chr11:86852466-86852467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86847845..86849686-chr11:86851887..86854201,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs12280110	0.83[CHB][hapmap]
rs12576009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17212655	0.83[CHB][hapmap]
rs2001411	0.81[CHB][hapmap]
rs2048973	0.83[CHB][hapmap]
rs2445562	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2451052	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2451053	0.83[CHB][hapmap]
rs2451060	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs2512344	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2512350	0.83[CHB][hapmap]
rs2512358	0.82[CHB][hapmap]
rs2512396	0.82[CHB][hapmap]
rs2512485	0.82[CHB][hapmap]
rs2512490	0.83[CHB][hapmap]
rs2513228	0.82[CHB][hapmap]
rs301573	0.87[CHB][hapmap]
rs3103383	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35493055	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs471471	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs473364	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs481278	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs482339	0.86[CHB][hapmap]
rs483373	0.83[CHB][hapmap]
rs489247	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs491895	0.83[CHB][hapmap]
rs492211	0.83[CHB][hapmap]
rs4943971	0.82[CHB][hapmap]
rs494698	0.83[CHB][hapmap]
rs495668	0.83[CHB][hapmap]
rs496671	0.83[CHB][hapmap]
rs496834	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs500109	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs502144	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs502580	0.83[CHB][hapmap]
rs5028348	0.82[CHB][hapmap]
rs503939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs503952	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs516120	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs520755	0.83[CHB][hapmap]
rs529564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs534965	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs538494	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs541293	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541998	0.83[CHB][hapmap]
rs546229	0.83[CHB][hapmap]
rs547867	0.83[CHB][hapmap]
rs549932	0.82[CHB][hapmap]
rs550988	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs552521	0.83[CHB][hapmap]
rs556139	0.83[CHB][hapmap]
rs563133	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs564877	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs566046	0.83[CHB][hapmap]
rs575992	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs576582	0.86[CHB][hapmap]
rs576679	0.83[CHB][hapmap]
rs580120	0.83[CHB][hapmap]
rs581174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs582415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583334	0.83[CHB][hapmap]
rs596912	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs597319	0.83[CHB][hapmap]
rs597344	0.83[CHB][hapmap]
rs597406	0.83[CHB][hapmap]
rs603140	0.83[CHB][hapmap]
rs604035	0.83[CHB][hapmap]
rs604960	0.84[CHB][hapmap]
rs605313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs606284	0.86[CHB][hapmap]
rs606299	0.83[CHB][hapmap]
rs608870	0.87[CHB][hapmap]
rs610228	0.83[CHB][hapmap]
rs611523	0.83[CHB][hapmap]
rs611538	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs613715	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618926	0.83[CHB][hapmap]
rs622517	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs622921	0.83[CHB][hapmap]
rs625554	0.83[CHB][hapmap]
rs628447	0.83[CHB][hapmap]
rs633211	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs634277	0.83[CHB][hapmap]
rs634343	0.84[CHB][hapmap]
rs637418	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs655050	0.83[CHB][hapmap]
rs655907	0.83[CHB][hapmap]
rs660246	0.83[CHB][hapmap]
rs664398	0.83[CHB][hapmap]
rs671781	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs672224	0.83[CHB][hapmap]
rs673634	0.85[AMR][1000 genomes]
rs676384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs687244	0.83[CHB][hapmap]
rs687651	0.83[CHB][hapmap]
rs692857	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs7949665	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv468777	chr11:86794856-86985581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv555707	chr11:86794856-86985581	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898060	chr11:86822077-86912633	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv420	chr11:86845328-86890111	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv898061	chr11:86850483-86944982	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv468778	chr11:86850483-86974576	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv555708	chr11:86850483-86974576	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
2	chr11:86836200-86853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:86836800-86877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:86837200-86852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:86847200-86853200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:86850200-86854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:86850600-86853800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:86850600-86861600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:86850800-86853000	Weak transcription	Primary T cells from cord blood	blood
10	chr11:86850800-86853200	Weak transcription	Dnd41	blood
11	chr11:86850800-86853200	Weak transcription	HepG2	liver
12	chr11:86850800-86860400	Weak transcription	Fetal Lung	lung
13	chr11:86850800-86861800	Weak transcription	Primary B cells from cord blood	blood
14	chr11:86851000-86854600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:86851200-86872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:86851400-86853200	Weak transcription	Right Atrium	heart
17	chr11:86852200-86859200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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