Variant report

Variant	rs28510321
Chromosome Location	chr7:5471555-5471556
allele	G/T
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	MAX	chr7:5471273-5471662	K562	blood:	n/a	chr7:5471289-5471298
2	PAX5	chr7:5471459-5471656	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:5471394-5471695	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:5471509-5471626	A549	lung:	n/a	n/a
5	POLR2A	chr7:5471392-5471571	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:5471544-5471586	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:5471204-5471742	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:5462669-5473356	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:5470825-5471758	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr7:5471316-5471762	HL-60	blood:	n/a	n/a
11	POLR2A	chr7:5471547-5471655	K562	blood:	n/a	n/a
12	REST	chr7:5470879-5471708	H1-neurons	neurons:	n/a	chr7:5471416-5471429
13	POLR2A	chr7:5471415-5471683	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr7:5457061-5472012	H1-neurons	neurons:	n/a	chr7:5468294-5468307 chr7:5467627-5467637 chr7:5468232-5468245 chr7:5471416-5471429 chr7:5467731-5467744 chr7:5469242-5469252 chr7:5458637-5458646 chr7:5462028-5462041 chr7:5468512-5468525 chr7:5463999-5464012 chr7:5466422-5466432 chr7:5467728-5467741 chr7:5465411-5465424 chr7:5466243-5466256 chr7:5469137-5469144 chr7:5458179-5458186 chr7:5463246-5463256 chr7:5457330-5457348 chr7:5462916-5462929 chr7:5467188-5467198 chr7:5461092-5461105 chr7:5469591-5469611 chr7:5467040-5467053 chr7:5463487-5463500
15	POLR2A	chr7:5470911-5471752	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr7:5471375-5471726	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:5471454-5471681	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5469953..5471687-chr7:5595348..5596965,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL18-1	chr7:5471212-5472165	NONHSAT118917

Variant related genes	Relation type
ENSG00000234432	TF binding region
ENSG00000272719	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10252993	0.93[ASN][1000 genomes]
rs13228828	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13229269	0.81[ASN][1000 genomes]
rs28498371	0.96[ASN][1000 genomes]
rs4720629	0.93[ASN][1000 genomes]
rs4724676	0.96[ASN][1000 genomes]
rs56809987	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59290379	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651075	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651076	1.00[ASN][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	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	nsv887396	chr7:5305297-5475409	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv533965	chr7:5370746-5548397	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
9	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
10	nsv887401	chr7:5393243-5539958	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
11	nsv887402	chr7:5394951-5494677	Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	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
13	nsv887405	chr7:5409059-5552436	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
14	nsv887406	chr7:5414602-5552436	Strong transcription Enhancers ZNF genes & repeats Weak 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	52 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv508443	chr7:5447283-5501122	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	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
20	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
21	nsv984498	chr7:5469767-5506036	Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5469400-5474400	Weak transcription	Aorta	Aorta
2	chr7:5469600-5472800	Weak transcription	A549	lung
3	chr7:5469800-5471800	Enhancers	Fetal Brain Male	brain
4	chr7:5469800-5475600	Weak transcription	Fetal Kidney	kidney
5	chr7:5470000-5471600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:5470000-5471600	Enhancers	K562	blood
7	chr7:5470000-5481400	Weak transcription	HSMMtube	muscle
8	chr7:5470200-5471800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:5470200-5472200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:5470200-5472200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:5470200-5472600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:5470200-5472600	Weak transcription	Hela-S3	cervix
13	chr7:5470200-5472600	Weak transcription	NHLF	lung
14	chr7:5470200-5472800	Weak transcription	Lung	lung
15	chr7:5470200-5472800	Weak transcription	Spleen	Spleen
16	chr7:5470200-5473000	Weak transcription	HSMM	muscle
17	chr7:5470200-5481000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:5470200-5491800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:5470400-5471600	Enhancers	Fetal Brain Female	brain
20	chr7:5470400-5472000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:5470400-5472400	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:5470400-5472600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:5470400-5472600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:5470400-5472600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:5470400-5472600	Weak transcription	Brain Substantia Nigra	brain
26	chr7:5470400-5472600	Weak transcription	Right Ventricle	heart
27	chr7:5470400-5472600	Weak transcription	Osteobl	bone
28	chr7:5470400-5472800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:5470400-5472800	Weak transcription	Adipose Nuclei	Adipose
30	chr7:5470400-5472800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:5470400-5472800	Weak transcription	Fetal Lung	lung
32	chr7:5470400-5472800	Weak transcription	Gastric	stomach
33	chr7:5470400-5472800	Weak transcription	Left Ventricle	heart
34	chr7:5470400-5472800	Weak transcription	Ovary	ovary
35	chr7:5470400-5472800	Weak transcription	Pancreas	Pancrea
36	chr7:5470400-5472800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:5470400-5472800	Weak transcription	NHDF-Ad	bronchial
38	chr7:5470400-5473000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:5470400-5475000	Weak transcription	NH-A	brain
40	chr7:5470400-5477000	Weak transcription	Brain Angular Gyrus	brain
41	chr7:5470400-5477000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:5470400-5477800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:5470400-5480800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:5470400-5481200	Weak transcription	Colonic Mucosa	Colon
45	chr7:5470400-5497600	Weak transcription	Right Atrium	heart
46	chr7:5470600-5471600	Enhancers	Brain Germinal Matrix	brain
47	chr7:5470600-5471600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:5470600-5472400	Weak transcription	Esophagus	oesophagus
49	chr7:5470600-5472600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:5470600-5472600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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