Variant report

Variant	rs318893
Chromosome Location	chr8:50874200-50874201
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	chr8:50861606..50863840-chr8:50871624..50874600,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10095475	0.85[AMR][1000 genomes]
rs10107848	0.85[AMR][1000 genomes]
rs10112063	0.85[AMR][1000 genomes]
rs10112215	0.80[EUR][1000 genomes]
rs12541363	0.82[EUR][1000 genomes]
rs1352117	0.80[CEU][hapmap]
rs1385311	1.00[CEU][hapmap]
rs1386114	0.85[AMR][1000 genomes]
rs1484813	0.83[CEU][hapmap]
rs149991	0.82[AMR][1000 genomes]
rs167629	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs167630	1.00[CEU][hapmap]
rs172758	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs178543	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs182646	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1905657	0.85[AMR][1000 genomes]
rs2015043	0.82[EUR][1000 genomes]
rs203611	0.82[AMR][1000 genomes]
rs203957	0.85[AMR][1000 genomes]
rs203958	0.85[AMR][1000 genomes]
rs203961	0.85[AMR][1000 genomes]
rs203963	0.85[AMR][1000 genomes]
rs2054742	0.85[AMR][1000 genomes]
rs2129161	0.82[EUR][1000 genomes]
rs2129169	0.82[EUR][1000 genomes]
rs2200494	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2220157	0.82[EUR][1000 genomes]
rs223081	0.84[CEU][hapmap]
rs2449957	0.84[CEU][hapmap]
rs2449958	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2450288	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2450291	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2628417	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2630550	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs318860	0.89[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs318862	0.91[CEU][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs318864	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs318870	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs318871	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs318872	0.84[CEU][hapmap]
rs318873	0.80[CEU][hapmap]
rs318875	0.84[CEU][hapmap]
rs318877	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs318884	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs318885	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs318888	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs318890	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs318894	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs318902	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318903	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318905	1.00[CEU][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318906	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318908	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318910	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318911	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs318912	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs365318	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs366526	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs380279	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs384406	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs391798	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs402156	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs406337	0.81[EUR][1000 genomes]
rs415276	0.84[CEU][hapmap]
rs417918	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs436688	0.80[EUR][1000 genomes]
rs6472722	0.82[CEU][hapmap]
rs7010915	0.80[EUR][1000 genomes]
rs7817941	0.85[AMR][1000 genomes]
rs7835615	0.85[AMR][1000 genomes]
rs931294	0.80[EUR][1000 genomes]
rs967109	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs967110	0.91[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs967116	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs971926	0.82[EUR][1000 genomes]
rs993552	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv611311	chr8:50865230-50980320	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv34788	chr8:50873247-50965438	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3479183	chr8:50873277-50965062	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1033098	chr8:50873293-50965692	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2757272	chr8:50873293-50968942	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3479184	chr8:50873317-50965027	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3479185	chr8:50873317-50965027	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv971592	chr8:50873330-50874778	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50855200-50875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50860400-50875400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:50869800-50875000	Weak transcription	Fetal Brain Male	brain
4	chr8:50870200-50875400	Weak transcription	Fetal Lung	lung
5	chr8:50870400-50875400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:50870400-50875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:50871000-50874600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:50872800-50875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:50873400-50874400	Weak transcription	Brain Germinal Matrix	brain

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