Variant report

Variant	rs2785178
Chromosome Location	chr11:35144986-35144987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35143665..35146006-chr11:35146722..35148953,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1425802	0.80[MEX][hapmap]
rs2039619	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2042679	0.88[CEU][hapmap];0.84[AMR][1000 genomes]
rs2250466	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2257171	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2553810	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2553812	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2553813	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2553817	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2732568	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2732572	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2732573	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2732578	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2732579	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2785174	0.80[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2785175	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2785176	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353563	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353565	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs353566	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353567	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs353570	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs353571	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353573	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353574	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353577	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398734	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756191	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs497335	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs626524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866292	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35139000-35145200	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:35139400-35156400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:35140600-35147800	Weak transcription	Spleen	Spleen
4	chr11:35142400-35145200	Enhancers	Thymus	Thymus
5	chr11:35142400-35145200	Enhancers	Dnd41	blood
6	chr11:35142400-35145600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:35142600-35145200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr11:35142600-35145200	Enhancers	Fetal Thymus	thymus
9	chr11:35142600-35145400	Enhancers	Primary T cells from cord blood	blood
10	chr11:35142600-35145400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:35142600-35145800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:35142800-35145200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:35142800-35145800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:35143000-35145400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr11:35143200-35145800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:35143400-35145200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:35143400-35145200	Enhancers	GM12878-XiMat	blood
18	chr11:35143600-35145200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:35143800-35145000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:35143800-35145000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:35144000-35145200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr11:35144400-35145400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr11:35144600-35147400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:35144800-35145200	Weak transcription	Primary B cells from cord blood	blood

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