Variant report

Variant	rs6718982
Chromosome Location	chr2:98617403-98617404
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:98615980..98618029-chr2:98637891..98639603,2	MCF-7	breast:
2	chr2:98611482..98616170-chr2:98616609..98621692,10	K562	blood:
3	chr2:98614289..98616084-chr2:98616141..98617811,2	MCF-7	breast:
4	chr2:98611459..98613319-chr2:98616181..98618161,2	MCF-7	breast:
5	chr2:98279130..98281270-chr2:98616559..98618565,2	K562	blood:
6	chr2:98611308..98614204-chr2:98616076..98619043,2	MCF-7	breast:
7	chr2:98615869..98618300-chr2:98627812..98630774,2	MCF-7	breast:
8	chr2:98605054..98607821-chr2:98616974..98618887,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000201806	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000075568	Chromatin interaction
ENSG00000115073	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10166513	0.94[ASN][1000 genomes]
rs10167772	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10168543	0.88[ASN][1000 genomes]
rs10168709	0.85[EUR][1000 genomes]
rs10175129	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10176826	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10180434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10183768	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10184457	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10184552	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10188497	0.88[ASN][1000 genomes]
rs10188713	0.88[ASN][1000 genomes]
rs10189414	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10202138	0.94[ASN][1000 genomes]
rs10206684	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10208070	0.82[EUR][1000 genomes]
rs10209970	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10210299	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10210520	0.88[ASN][1000 genomes]
rs10210880	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024086	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11886417	1.00[ASN][1000 genomes]
rs11893437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894541	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11894895	0.88[ASN][1000 genomes]
rs11895170	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11897301	0.88[ASN][1000 genomes]
rs12712117	0.88[ASN][1000 genomes]
rs12712120	0.88[ASN][1000 genomes]
rs12712162	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12712163	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12712172	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12992955	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13000585	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13008678	0.83[EUR][1000 genomes]
rs13008904	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13010004	0.88[ASN][1000 genomes]
rs13012645	0.81[EUR][1000 genomes]
rs13387725	0.85[EUR][1000 genomes]
rs13404788	0.82[EUR][1000 genomes]
rs13427422	0.82[EUR][1000 genomes]
rs1446327	0.88[ASN][1000 genomes]
rs1503202	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1960329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1982336	0.88[ASN][1000 genomes]
rs2121271	0.88[ASN][1000 genomes]
rs34190123	0.94[ASN][1000 genomes]
rs34414288	0.88[ASN][1000 genomes]
rs34469351	0.97[ASN][1000 genomes]
rs35185431	0.88[ASN][1000 genomes]
rs35203092	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35402416	0.81[EUR][1000 genomes]
rs35776557	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35807655	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35940587	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36079497	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821053	0.88[ASN][1000 genomes]
rs55753459	0.94[ASN][1000 genomes]
rs55817781	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6543111	0.85[ASN][1000 genomes]
rs6707719	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs6707750	0.82[EUR][1000 genomes]
rs6712078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6713504	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6721323	0.82[ASN][1000 genomes]
rs6721467	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6728312	0.88[ASN][1000 genomes]
rs6738401	0.94[ASN][1000 genomes]
rs6751727	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6755021	0.94[ASN][1000 genomes]
rs6756969	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760008	0.88[ASN][1000 genomes]
rs68115667	1.00[ASN][1000 genomes]
rs71429373	0.94[ASN][1000 genomes]
rs718159	0.88[ASN][1000 genomes]
rs7557495	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7570009	0.88[ASN][1000 genomes]
rs7578638	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582298	0.94[ASN][1000 genomes]
rs7588227	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593290	0.88[ASN][1000 genomes]
rs7594928	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7595039	0.88[ASN][1000 genomes]
rs7599043	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7605288	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784011	0.85[EUR][1000 genomes]
rs9808558	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs9973490	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr2:98613600-98626000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:98613600-98626800	Weak transcription	Spleen	Spleen
3	chr2:98613800-98636200	Weak transcription	Stomach Mucosa	stomach

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