Variant report

Variant	rs852509
Chromosome Location	chr7:5605185-5605186
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:5604308-5606225	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5594823..5597043-chr7:5604963..5607865,2	MCF-7	breast:
2	chr7:5600360..5604967-chr7:5605162..5611387,11	MCF-7	breast:

Variant related genes	Relation type
ACTB	TF binding region
ENSG00000228974	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1628786	0.85[AMR][1000 genomes]
rs1725186	0.85[AMR][1000 genomes]
rs2693951	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2908421	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710939	0.85[AMR][1000 genomes]
rs710940	0.85[AMR][1000 genomes]
rs710942	0.85[AMR][1000 genomes]
rs852262	0.85[AMR][1000 genomes]
rs852264	0.85[AMR][1000 genomes]
rs852381	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs852383	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs852384	0.81[ASN][1000 genomes]
rs852398	0.85[AMR][1000 genomes]
rs852399	0.85[AMR][1000 genomes]
rs852401	0.85[AMR][1000 genomes]
rs852404	0.85[AMR][1000 genomes]
rs852407	0.85[AMR][1000 genomes]
rs852408	0.85[AMR][1000 genomes]
rs852412	0.85[AMR][1000 genomes]
rs852413	0.85[AMR][1000 genomes]
rs852416	0.85[AMR][1000 genomes]
rs852419	0.85[AMR][1000 genomes]
rs852443	0.85[AMR][1000 genomes]
rs852449	0.85[AMR][1000 genomes]
rs852451	0.85[AMR][1000 genomes]
rs852458	0.85[AMR][1000 genomes]
rs852465	0.85[AMR][1000 genomes]
rs852476	0.85[AMR][1000 genomes]
rs852480	0.85[AMR][1000 genomes]
rs852490	0.85[AMR][1000 genomes]
rs852495	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs852497	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852501	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852503	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852511	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs852513	0.96[ASN][1000 genomes]
rs852518	0.85[AMR][1000 genomes]
rs852523	0.85[AMR][1000 genomes]
rs852524	0.85[AMR][1000 genomes]
rs852525	0.85[AMR][1000 genomes]
rs852528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852534	0.85[ASN][1000 genomes]
rs852535	0.85[ASN][1000 genomes]
rs852536	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852537	0.85[ASN][1000 genomes]
rs852538	0.85[ASN][1000 genomes]
rs852539	0.85[ASN][1000 genomes]
rs852540	0.85[ASN][1000 genomes]
rs852541	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852543	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs852544	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5603200-5605600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:5603200-5609000	Weak transcription	Fetal Heart	heart
3	chr7:5603400-5607200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:5603400-5607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:5603400-5607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:5603400-5607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:5603400-5607600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:5603400-5607600	Weak transcription	Primary T cells from cord blood	blood
9	chr7:5603400-5608600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:5603400-5608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:5603400-5608800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:5603400-5608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:5603400-5608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:5603400-5608800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:5603400-5608800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:5603400-5608800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:5603400-5608800	Weak transcription	HMEC	breast
18	chr7:5603400-5609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:5603400-5609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:5603400-5609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:5603400-5609000	Weak transcription	Liver	Liver
22	chr7:5603400-5609000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:5603400-5609000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:5603400-5609000	Weak transcription	Left Ventricle	heart
25	chr7:5603400-5609000	Weak transcription	Ovary	ovary
26	chr7:5603400-5609000	Weak transcription	Psoas Muscle	Psoas
27	chr7:5603400-5609000	Weak transcription	Right Atrium	heart
28	chr7:5603400-5609000	Weak transcription	Spleen	Spleen
29	chr7:5603400-5609000	Weak transcription	HSMMtube	muscle
30	chr7:5603400-5609000	Weak transcription	NH-A	brain
31	chr7:5603400-5609000	Weak transcription	NHDF-Ad	bronchial
32	chr7:5603400-5609000	Weak transcription	NHLF	lung
33	chr7:5603600-5606400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:5603600-5607200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:5603600-5607200	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:5603600-5607200	Weak transcription	K562	blood
37	chr7:5603600-5607400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:5603600-5607400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:5603600-5607400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:5603600-5607400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:5603600-5607400	Weak transcription	Fetal Thymus	thymus
42	chr7:5603600-5607400	Weak transcription	Dnd41	blood
43	chr7:5603600-5607600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:5603600-5607600	Weak transcription	Fetal Intestine Large	intestine
45	chr7:5603600-5608600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:5603600-5608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:5603600-5608800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:5603600-5608800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:5603600-5608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:5603600-5608800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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