Variant report

Variant	rs558689766
Chromosome Location	chr7:5470343-5470344
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	POLR2A	chr7:5466057-5470540	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:5470134-5470422	H1-hESC	embryonic stem cell:	n/a	n/a
3	HEY1	chr7:5463524-5470625	HepG2	liver:	n/a	chr7:5467665-5467680
4	POLR2A	chr7:5468762-5470527	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:5462905-5470450	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr7:5462988-5470596	HepG2	liver:	n/a	n/a
7	SIN3AK20	chr7:5456970-5470393	MCF-7	breast:	n/a	n/a
8	MAZ	chr7:5468403-5470367	K562	blood:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5469327-5469337
9	POLR2A	chr7:5457865-5470354	H1-neurons	neurons:	n/a	n/a
10	HEY1	chr7:5462994-5470384	HepG2	liver:	n/a	chr7:5463117-5463132 chr7:5463149-5463164 chr7:5467665-5467680 chr7:5463127-5463142 chr7:5463296-5463311
11	POLR2A	chr7:5462669-5473356	HepG2	liver:	n/a	n/a
12	MAX	chr7:5464374-5470402	HCT-116	colon:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5467552-5467560 chr7:5466324-5466331 chr7:5469327-5469337
13	KAP1	chr7:5469287-5470348	HEK293	kidney:	n/a	n/a
14	MAX	chr7:5465120-5470377	HepG2	liver:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5467552-5467560 chr7:5466324-5466331 chr7:5469327-5469337
15	POLR2A	chr7:5470262-5470442	Hela-S3	cervix:	n/a	n/a
16	RCOR1	chr7:5469922-5470365	K562	blood:	n/a	n/a
17	JUN	chr7:5468340-5470487	K562	blood:	n/a	chr7:5469701-5469712
18	POLR2A	chr7:5470207-5470545	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:5461130-5470480	PANC-1	pancreas:	n/a	n/a
20	MXI1	chr7:5465014-5470626	IMR90	lung:	n/a	chr7:5466382-5466391
21	ZMIZ1	chr7:5470104-5470494	K562	blood:	n/a	n/a
22	POLR2A	chr7:5465893-5470535	HL-60	blood:	n/a	n/a
23	POLR2A	chr7:5463535-5470587	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:5470181-5470610	HepG2	liver:	n/a	n/a
25	MAZ	chr7:5468257-5470407	IMR90	lung:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5469327-5469337
26	MAX	chr7:5465190-5470463	HepG2	liver:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5467552-5467560 chr7:5466324-5466331 chr7:5469327-5469337
27	POLR2A	chr7:5470300-5470364	K562	blood:	n/a	n/a
28	RCOR1	chr7:5469113-5470363	HepG2	liver:	n/a	n/a
29	ZNF263	chr7:5470055-5470504	HEK293-T-REx	kidney:	n/a	chr7:5470408-5470417
30	MBD4	chr7:5469737-5470497	HepG2	liver:	n/a	n/a
31	NR2F2	chr7:5470009-5470554	K562	blood:	n/a	n/a
32	RCOR1	chr7:5468405-5470361	K562	blood:	n/a	n/a
33	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
34	NR2F2	chr7:5470182-5470695	MCF-7	breast:	n/a	n/a
35	USF2	chr7:5470332-5470348	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5469953..5471687-chr7:5595348..5596965,2	MCF-7	breast:
2	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:
3	chr7:5467744..5470492-chr7:5602322..5603913,2	MCF-7	breast:
4	chr7:5466921..5470347-chr7:5568763..5571838,5	K562	blood:
5	chr12:56509416..56511778-chr7:5467782..5470383,2	MCF-7	breast:
6	chr7:5462317..5470347-chr7:5568581..5572906,13	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC29A4-5	chr7:5465047-5470893	NONHSAT118916

Variant related genes	Relation type
ENSG00000234432	TF binding region
ENSG00000229117	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000272719	Chromatin interaction

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

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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5464800-5470600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:5466200-5470400	Flanking Active TSS	Colonic Mucosa	Colon
3	chr7:5466800-5470400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr7:5467600-5470400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr7:5467600-5470400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr7:5467800-5470400	Flanking Active TSS	Liver	Liver
7	chr7:5468000-5470600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:5468200-5470400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:5468200-5470600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:5468400-5470400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr7:5468600-5470400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:5469000-5470400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:5469000-5470600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr7:5469200-5470400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:5469200-5470400	Flanking Active TSS	Fetal Brain Female	brain
16	chr7:5469200-5470400	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr7:5469200-5470400	Flanking Active TSS	Fetal Lung	lung
18	chr7:5469200-5470400	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr7:5469200-5470600	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr7:5469400-5470400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:5469400-5470400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:5469400-5470400	Flanking Active TSS	HMEC	breast
23	chr7:5469400-5474400	Weak transcription	Aorta	Aorta
24	chr7:5469600-5470400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:5469600-5470400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr7:5469600-5470400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
27	chr7:5469600-5470600	Enhancers	Stomach Mucosa	stomach
28	chr7:5469600-5472800	Weak transcription	A549	lung
29	chr7:5469800-5470400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:5469800-5470400	Enhancers	Adipose Nuclei	Adipose
31	chr7:5469800-5470400	Enhancers	Brain Hippocampus Middle	brain
32	chr7:5469800-5470400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr7:5469800-5470400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:5469800-5470400	Enhancers	Brain Substantia Nigra	brain
35	chr7:5469800-5470400	Enhancers	Left Ventricle	heart
36	chr7:5469800-5470400	Enhancers	Ovary	ovary
37	chr7:5469800-5470400	Enhancers	Pancreas	Pancrea
38	chr7:5469800-5470400	Enhancers	Right Atrium	heart
39	chr7:5469800-5470400	Enhancers	Right Ventricle	heart
40	chr7:5469800-5470400	Enhancers	HUVEC	blood vessel
41	chr7:5469800-5470400	Active TSS	Osteobl	bone
42	chr7:5469800-5470600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:5469800-5470600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:5469800-5470600	Enhancers	Fetal Muscle Trunk	muscle
45	chr7:5469800-5470600	Enhancers	Fetal Muscle Leg	muscle
46	chr7:5469800-5470600	Enhancers	Placenta	Placenta
47	chr7:5469800-5470600	Flanking Active TSS	HepG2	liver
48	chr7:5469800-5471200	Bivalent Enhancer	Fetal Thymus	thymus
49	chr7:5469800-5471800	Enhancers	Fetal Brain Male	brain
50	chr7:5469800-5475600	Weak transcription	Fetal Kidney	kidney

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