Variant report

Variant	rs142084949
Chromosome Location	chr7:5470004-5470005
allele	C/G
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	MXI1	chr7:5466083-5470194	HepG2	liver:	n/a	chr7:5466382-5466391
3	EP300	chr7:5469646-5470079	T-47D	breast:	n/a	chr7:5469758-5469771
4	MAX	chr7:5468443-5470103	K562	blood:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5469327-5469337
5	TAF1	chr7:5468369-5470030	HepG2	liver:	n/a	n/a
6	TCF7L2	chr7:5466013-5470091	HCT-116	colon:	n/a	n/a
7	POLR2A	chr7:5469330-5470023	MCF-7	breast:	n/a	n/a
8	HEY1	chr7:5463524-5470625	HepG2	liver:	n/a	chr7:5467665-5467680
9	POLR2A	chr7:5468762-5470527	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:5468358-5470124	HepG2	liver:	n/a	n/a
11	MYC	chr7:5469889-5470029	MCF-7	breast:	n/a	n/a
12	GATA3	chr7:5469651-5470101	T-47D	breast:	n/a	n/a
13	POLR2A	chr7:5462905-5470450	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr7:5469990-5470042	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr7:5468439-5470045	MCF-7	breast:	n/a	n/a
16	MYC	chr7:5469371-5470044	MCF10A-Er-Src	breast:	n/a	chr7:5469723-5469734 chr7:5469816-5469826
17	EP300	chr7:5469637-5470095	T-47D	breast:	n/a	chr7:5469758-5469771
18	POLR2A	chr7:5463513-5470130	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr7:5469800-5470093	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:5462988-5470596	HepG2	liver:	n/a	n/a
21	SIN3AK20	chr7:5456970-5470393	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:5465190-5470161	HCT-116	colon:	n/a	n/a
23	MAZ	chr7:5468403-5470367	K562	blood:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5469327-5469337
24	POLR2A	chr7:5457865-5470354	H1-neurons	neurons:	n/a	n/a
25	HEY1	chr7:5462994-5470384	HepG2	liver:	n/a	chr7:5463117-5463132 chr7:5463149-5463164 chr7:5467665-5467680 chr7:5463127-5463142 chr7:5463296-5463311
26	ZNF143	chr7:5468508-5470306	K562	blood:	n/a	chr7:5469440-5469459
27	POLR2A	chr7:5462669-5473356	HepG2	liver:	n/a	n/a
28	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
29	KAP1	chr7:5469287-5470348	HEK293	kidney:	n/a	n/a
30	SIN3AK20	chr7:5469485-5470019	PANC-1	pancreas:	n/a	n/a
31	ESRRA	chr7:5468426-5470244	GM12878	blood:	n/a	chr7:5468971-5468984 chr7:5469274-5469284 chr7:5469270-5469286 chr7:5469274-5469286
32	MYC	chr7:5469596-5470107	HepG2	liver:	n/a	chr7:5469723-5469734 chr7:5469816-5469826
33	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
34	CBX3	chr7:5469880-5470293	K562	blood:	n/a	n/a
35	TBL1XR1	chr7:5469584-5470337	K562	blood:	n/a	n/a
36	RCOR1	chr7:5469922-5470365	K562	blood:	n/a	n/a
37	MYC	chr7:5468416-5470091	K562	blood:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5469327-5469337
38	RCOR1	chr7:5470000-5470106	Hela-S3	cervix:	n/a	n/a
39	JUN	chr7:5468340-5470487	K562	blood:	n/a	chr7:5469701-5469712
40	MYC	chr7:5469400-5470163	MCF10A-Er-Src	breast:	n/a	chr7:5469723-5469734 chr7:5469816-5469826
41	POLR2A	chr7:5461130-5470480	PANC-1	pancreas:	n/a	n/a
42	MXI1	chr7:5465014-5470626	IMR90	lung:	n/a	chr7:5466382-5466391
43	POLR2A	chr7:5465893-5470535	HL-60	blood:	n/a	n/a
44	POLR2A	chr7:5463535-5470587	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:5469264-5470044	MCF-7	breast:	n/a	n/a
46	POLR2A	chr7:5465082-5470242	HCT-116	colon:	n/a	n/a
47	TAF1	chr7:5469042-5470029	H1-neurons	neurons:	n/a	n/a
48	MAZ	chr7:5468257-5470407	IMR90	lung:	n/a	chr7:5468707-5468716 chr7:5469723-5469734 chr7:5469816-5469826 chr7:5469327-5469337
49	POLR2A	chr7:5468161-5470163	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr7:5462950-5470102	ProgFib	skin:	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	chr7:5463649..5470093-chr7:5593803..5597245,7	MCF-7	breast:
4	chr7:5467744..5470492-chr7:5602322..5603913,2	MCF-7	breast:
5	chr7:5466921..5470347-chr7:5568763..5571838,5	K562	blood:
6	chr12:56509416..56511778-chr7:5467782..5470383,2	MCF-7	breast:
7	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
TNRC18	TF binding region
ENSG00000182095	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000272719	Chromatin interaction
ENSG00000229117	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:100 , 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	chr7:5465600-5470200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr7:5466200-5470400	Flanking Active TSS	Colonic Mucosa	Colon
4	chr7:5466800-5470400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr7:5467000-5470200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:5467600-5470200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:5467600-5470200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:5467600-5470200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr7:5467600-5470400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:5467600-5470400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:5467800-5470200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr7:5467800-5470200	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr7:5467800-5470400	Flanking Active TSS	Liver	Liver
14	chr7:5468000-5470200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:5468000-5470200	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr7:5468000-5470200	Enhancers	Spleen	Spleen
17	chr7:5468000-5470600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:5468200-5470400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:5468200-5470600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:5468400-5470400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr7:5468600-5470200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:5468600-5470400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:5469000-5470400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:5469000-5470600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr7:5469200-5470200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:5469200-5470400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:5469200-5470400	Flanking Active TSS	Fetal Brain Female	brain
28	chr7:5469200-5470400	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr7:5469200-5470400	Flanking Active TSS	Fetal Lung	lung
30	chr7:5469200-5470400	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr7:5469200-5470600	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr7:5469400-5470200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:5469400-5470200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr7:5469400-5470200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr7:5469400-5470400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:5469400-5470400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:5469400-5470400	Flanking Active TSS	HMEC	breast
38	chr7:5469400-5474400	Weak transcription	Aorta	Aorta
39	chr7:5469600-5470200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:5469600-5470200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:5469600-5470200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr7:5469600-5470200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:5469600-5470200	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr7:5469600-5470200	Flanking Active TSS	Fetal Heart	heart
45	chr7:5469600-5470200	Enhancers	Lung	lung
46	chr7:5469600-5470400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:5469600-5470400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr7:5469600-5470400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
49	chr7:5469600-5470600	Enhancers	Stomach Mucosa	stomach
50	chr7:5469600-5472800	Weak transcription	A549	lung

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