Variant report

Variant	rs852544
Chromosome Location	chr7:5589955-5589956
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5526609..5529054-chr7:5587679..5591760,3	MCF-7	breast:
2	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
3	chr7:5551990..5554628-chr7:5588309..5590041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075624	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000155034	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1628786	1.00[AMR][1000 genomes]
rs1725186	1.00[AMR][1000 genomes]
rs1990835	0.83[AMR][1000 genomes]
rs2161012	0.83[AMR][1000 genomes]
rs2693951	1.00[AMR][1000 genomes]
rs2908421	0.87[ASN][1000 genomes]
rs4720636	0.83[AMR][1000 genomes]
rs4724714	0.83[AMR][1000 genomes]
rs710939	1.00[AMR][1000 genomes]
rs710940	1.00[AMR][1000 genomes]
rs710942	1.00[AMR][1000 genomes]
rs852260	0.83[AMR][1000 genomes]
rs852262	1.00[AMR][1000 genomes]
rs852264	1.00[AMR][1000 genomes]
rs852377	0.83[AMR][1000 genomes]
rs852381	1.00[AMR][1000 genomes]
rs852383	1.00[AMR][1000 genomes]
rs852398	1.00[AMR][1000 genomes]
rs852399	1.00[AMR][1000 genomes]
rs852401	1.00[AMR][1000 genomes]
rs852404	1.00[AMR][1000 genomes]
rs852407	1.00[AMR][1000 genomes]
rs852408	1.00[AMR][1000 genomes]
rs852412	1.00[AMR][1000 genomes]
rs852413	1.00[AMR][1000 genomes]
rs852416	1.00[AMR][1000 genomes]
rs852419	1.00[AMR][1000 genomes]
rs852437	0.85[AMR][1000 genomes]
rs852440	0.85[AMR][1000 genomes]
rs852443	1.00[AMR][1000 genomes]
rs852449	1.00[AMR][1000 genomes]
rs852451	1.00[AMR][1000 genomes]
rs852458	1.00[AMR][1000 genomes]
rs852462	0.85[AMR][1000 genomes]
rs852465	1.00[AMR][1000 genomes]
rs852475	0.85[AMR][1000 genomes]
rs852476	1.00[AMR][1000 genomes]
rs852480	1.00[AMR][1000 genomes]
rs852487	0.85[AMR][1000 genomes]
rs852490	1.00[AMR][1000 genomes]
rs852495	1.00[AMR][1000 genomes]
rs852501	0.87[ASN][1000 genomes]
rs852503	0.87[ASN][1000 genomes]
rs852504	0.87[ASN][1000 genomes]
rs852509	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs852513	0.83[ASN][1000 genomes]
rs852518	1.00[AMR][1000 genomes]
rs852523	1.00[AMR][1000 genomes]
rs852524	1.00[AMR][1000 genomes]
rs852525	1.00[AMR][1000 genomes]
rs852528	0.87[ASN][1000 genomes]
rs852536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs852541	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs852543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941016	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
10	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
11	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
12	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
13	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
14	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
15	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
16	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
17	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
18	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
19	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
20	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
21	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5572600-5594600	Weak transcription	Right Atrium	heart
2	chr7:5587000-5592400	Weak transcription	Liver	Liver
3	chr7:5587000-5594200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:5588800-5590000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:5588800-5590000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr7:5588800-5590400	Enhancers	NHEK	skin
7	chr7:5588800-5590800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:5588800-5590800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:5588800-5590800	Enhancers	Fetal Intestine Small	intestine
10	chr7:5588800-5590800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:5588800-5595000	Enhancers	Placenta	Placenta
12	chr7:5589000-5594400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:5589200-5591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:5589400-5590600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:5589400-5590600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:5589400-5591800	Weak transcription	Colonic Mucosa	Colon
17	chr7:5589400-5592400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:5589400-5593000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:5589400-5593000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:5589400-5594000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:5589400-5594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:5589400-5594200	Weak transcription	Primary B cells from cord blood	blood
23	chr7:5589400-5594200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:5589400-5594200	Weak transcription	Spleen	Spleen
25	chr7:5589400-5594400	Weak transcription	HUVEC	blood vessel
26	chr7:5589400-5595000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:5589400-5595200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:5589600-5590000	Weak transcription	NH-A	brain
29	chr7:5589600-5590200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:5589600-5590200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:5589600-5590200	Enhancers	K562	blood
32	chr7:5589600-5591200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:5589600-5591200	Enhancers	Hela-S3	cervix
34	chr7:5589600-5591600	Weak transcription	Fetal Intestine Large	intestine
35	chr7:5589600-5591800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:5589600-5592400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:5589600-5592400	Weak transcription	A549	lung
38	chr7:5589600-5592600	Weak transcription	Stomach Mucosa	stomach
39	chr7:5589600-5592800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:5589600-5592800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:5589600-5593000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:5589600-5593000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:5589600-5593000	Weak transcription	HMEC	breast
44	chr7:5589600-5593000	Weak transcription	HSMM	muscle
45	chr7:5589600-5594000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:5589600-5594200	Weak transcription	Esophagus	oesophagus
47	chr7:5589600-5594200	Weak transcription	Lung	lung
48	chr7:5589600-5594400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:5589600-5594400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:5589600-5594400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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