Variant report

Variant	rs73332468
Chromosome Location	chr7:5599378-5599379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:5599317-5599468	MCF-7	breast:	n/a	n/a
2	POLR2A	chr7:5599344-5599448	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:5599265-5599772	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5533565..5537610-chr7:5594791..5600448,10	K562	blood:
2	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
3	chr7:5597370..5600329-chr7:5734378..5736141,2	MCF-7	breast:
4	chr7:5532197..5537592-chr7:5593884..5603950,17	MCF-7	breast:
5	chr7:5464910..5469932-chr7:5594160..5600416,10	MCF-7	breast:
6	chr7:5531499..5540573-chr7:5594200..5602257,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228974	TF binding region
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000272953	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000207973	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28444267	1.00[AMR][1000 genomes]
rs59396121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943875	1.00[AMR][1000 genomes]
rs6948327	1.00[AMR][1000 genomes]
rs73332474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334406	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334421	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5596400-5599800	Enhancers	Spleen	Spleen
2	chr7:5596400-5601800	Weak transcription	Ovary	ovary
3	chr7:5596600-5601800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:5596600-5601800	Weak transcription	Fetal Kidney	kidney
5	chr7:5596800-5599600	Enhancers	Fetal Muscle Trunk	muscle
6	chr7:5596800-5599600	Enhancers	Fetal Muscle Leg	muscle
7	chr7:5596800-5601600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:5596800-5601600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:5596800-5601800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:5596800-5601800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:5597000-5601600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:5597800-5599400	Enhancers	K562	blood
13	chr7:5597800-5601800	Weak transcription	Aorta	Aorta
14	chr7:5598000-5599600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:5598000-5599800	Enhancers	A549	lung
16	chr7:5598400-5599800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:5598400-5601600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:5598400-5601800	Weak transcription	Gastric	stomach
19	chr7:5598400-5601800	Weak transcription	Small Intestine	intestine
20	chr7:5598600-5599400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:5598600-5599400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:5598600-5599400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:5598600-5599600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:5598600-5599600	Enhancers	Fetal Thymus	thymus
25	chr7:5598600-5599600	Enhancers	Right Ventricle	heart
26	chr7:5598600-5599800	Enhancers	Primary B cells from cord blood	blood
27	chr7:5598600-5599800	Enhancers	Adipose Nuclei	Adipose
28	chr7:5598600-5601200	Weak transcription	Hela-S3	cervix
29	chr7:5598600-5601200	Weak transcription	HepG2	liver
30	chr7:5598600-5601200	Weak transcription	HMEC	breast
31	chr7:5598600-5601400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:5598600-5601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:5598600-5601400	Weak transcription	Stomach Mucosa	stomach
34	chr7:5598600-5601600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:5598600-5601600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:5598600-5601600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:5598600-5601600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:5598600-5601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:5598600-5601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:5598600-5601600	Weak transcription	Liver	Liver
41	chr7:5598600-5601600	Weak transcription	Brain Angular Gyrus	brain
42	chr7:5598600-5601600	Weak transcription	Colonic Mucosa	Colon
43	chr7:5598600-5601600	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:5598600-5601600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:5598600-5601600	Weak transcription	Fetal Intestine Large	intestine
46	chr7:5598600-5601600	Weak transcription	Fetal Intestine Small	intestine
47	chr7:5598600-5601600	Weak transcription	HSMMtube	muscle
48	chr7:5598600-5601600	Weak transcription	NH-A	brain
49	chr7:5598600-5601600	Weak transcription	NHEK	skin
50	chr7:5598600-5601600	Weak transcription	NHLF	lung

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