Variant report

Variant	rs7249385
Chromosome Location	chr19:42249161-42249162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42211274..42215758-chr19:42247463..42250284,5	MCF-7	breast:
2	chr19:42210648..42213513-chr19:42249142..42252570,4	MCF-7	breast:
3	chr19:42210407..42210988-chr19:42249087..42249617,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007306	Chromatin interaction
ENSG00000267881	Chromatin interaction
ENSG00000105388	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs56777717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58127675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59623589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59675676	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325364	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6508994	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6508995	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249254	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7249444	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7251260	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255583	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7256339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7257822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932049	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932050	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932052	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932056	1.00[AMR][1000 genomes]
rs73932057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932084	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932085	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932087	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932088	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9749010	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	esv3425986	chr19:42212540-42259719	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3430577	chr19:42247653-42285973	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr19:42240400-42249600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr19:42246600-42250600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr19:42246600-42250800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:42246600-42251000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:42247000-42249600	Enhancers	Primary B cells from cord blood	blood
6	chr19:42247000-42251000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:42247800-42249200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr19:42248000-42249400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr19:42248000-42250600	Enhancers	Fetal Intestine Large	intestine
10	chr19:42248200-42251000	Enhancers	Fetal Intestine Small	intestine
11	chr19:42248400-42250800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr19:42248400-42250800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr19:42248800-42249400	Enhancers	Small Intestine	intestine
14	chr19:42249000-42249200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr19:42249000-42249200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:42249000-42250600	Enhancers	Colonic Mucosa	Colon
17	chr19:42249000-42251200	Enhancers	Stomach Mucosa	stomach

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