Variant report

Variant	rs2537591
Chromosome Location	chr7:17810764-17810765
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	chr7:17808606..17813433-chr7:17978670..17983047,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071189	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1404415	0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs17138250	0.94[CEU][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1830004	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1830005	0.85[CHB][hapmap];0.92[ASN][1000 genomes]
rs2537580	0.80[ASN][1000 genomes]
rs2537584	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2537589	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2537590	0.83[CEU][hapmap];0.88[ASN][1000 genomes]
rs2723522	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2723524	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6461347	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	esv2764016	chr7:17800816-17815402	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17809200-17813800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:17809400-17810800	Enhancers	Primary B cells from peripheral blood	blood
3	chr7:17809400-17810800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:17809400-17811000	Enhancers	Fetal Heart	heart
5	chr7:17809600-17810800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr7:17809800-17811000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:17809800-17811000	Enhancers	Primary B cells from cord blood	blood
8	chr7:17809800-17811200	Enhancers	NHEK	skin
9	chr7:17809800-17811600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:17809800-17812600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:17810000-17811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:17810000-17812600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:17810200-17810800	Enhancers	HSMM	muscle
14	chr7:17810200-17811200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:17810200-17812800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:17810200-17815000	Enhancers	HMEC	breast
17	chr7:17810400-17811400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:17810400-17811600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:17810600-17810800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:17810600-17810800	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:17810600-17810800	Enhancers	Fetal Stomach	stomach
22	chr7:17810600-17811200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:17810600-17811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:17810600-17811400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:17810600-17811800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:17810600-17812000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:17810600-17812400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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