Variant report

Variant	rs560719143
Chromosome Location	chr7:66311081-66311082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:66310418-66311445	K562	blood:	n/a	n/a
2	POLR2A	chr7:66309484-66311210	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:66310676-66311111	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:66309325-66311241	K562	blood:	n/a	n/a
5	POLR2A	chr7:66309226-66311225	K562	blood:	n/a	n/a
6	HEY1	chr7:66309393-66311646	K562	blood:	n/a	n/a
7	POLR2A	chr7:66309387-66311373	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:66310960-66311139	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:66308321-66312999	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:66310906-66311285	K562	blood:	n/a	n/a
11	NR2F2	chr7:66309099-66311205	K562	blood:	n/a	n/a
12	POLR2A	chr7:66309154-66311361	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr7:66309415-66311591	H1-hESC	embryonic stem cell:	n/a	n/a
14	SPI1	chr7:66310976-66311117	K562	blood:	n/a	n/a
15	ZNF263	chr7:66310637-66311303	HEK293-T-REx	kidney:	n/a	chr7:66310855-66310864
16	POLR2A	chr7:66308488-66312871	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr7:66310913-66311127	K562	blood:	n/a	n/a
18	POLR2A	chr7:66310438-66311572	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr7:66309633-66311406	K562	blood:	n/a	n/a
20	HEY1	chr7:66309395-66311191	K562	blood:	n/a	n/a
21	POLR2A	chr7:66309388-66311086	GM12892	blood:	n/a	n/a
22	POLR2A	chr7:66309472-66311082	K562	blood:	n/a	n/a
23	POLR2A	chr7:66309512-66311478	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:66309597-66311143	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr7:66309564-66311164	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:66310722-66311083	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:66309481-66311266	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
2	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:
3	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
4	chr7:66305123..66307515-chr7:66310267..66312023,2	K562	blood:
5	chr7:66310160..66312004-chr7:66384558..66386513,2	K562	blood:
6	chr7:66309053..66311838-chr7:66313170..66315306,3	K562	blood:
7	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
8	chr7:66310807..66313244-chr7:66448820..66450934,2	MCF-7	breast:
9	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD7-2	chr7:66310014-66311344	NONHSAT121231

No data

Variant related genes	Relation type
ENSG00000232546	TF binding region
GTF2IRD1P1	TF binding region
ENSG00000126524	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000232546	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000198874	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981514	chr7:66310139-66366240	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66310200-66311200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr7:66310400-66311200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr7:66310400-66311200	Enhancers	Spleen	Spleen
4	chr7:66310400-66311200	Flanking Active TSS	Dnd41	blood
5	chr7:66310400-66337000	Weak transcription	Small Intestine	intestine
6	chr7:66310600-66311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:66310600-66311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:66310600-66311200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:66310600-66311200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:66310600-66311200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:66310600-66311200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr7:66310600-66311200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:66310600-66311200	Active TSS	Hela-S3	cervix
14	chr7:66310600-66311400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:66310600-66311400	Enhancers	Gastric	stomach
16	chr7:66310600-66311600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:66310600-66311800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:66310600-66313000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:66310600-66329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:66310800-66311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:66310800-66311200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:66310800-66311200	Enhancers	Adipose Nuclei	Adipose
23	chr7:66310800-66311200	Enhancers	Brain Angular Gyrus	brain
24	chr7:66310800-66311200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:66310800-66311200	Enhancers	Esophagus	oesophagus
26	chr7:66310800-66311200	Enhancers	Fetal Muscle Leg	muscle
27	chr7:66310800-66311200	Enhancers	Right Ventricle	heart
28	chr7:66310800-66311400	Flanking Active TSS	HepG2	liver
29	chr7:66310800-66311400	Flanking Active TSS	K562	blood
30	chr7:66310800-66311600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:66310800-66311800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:66310800-66312000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:66310800-66312200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:66310800-66312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:66310800-66312800	Weak transcription	Primary B cells from cord blood	blood
36	chr7:66310800-66312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:66310800-66313200	Weak transcription	NH-A	brain
38	chr7:66310800-66314600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:66310800-66324800	Weak transcription	Brain Substantia Nigra	brain
40	chr7:66310800-66331600	Weak transcription	Ovary	ovary
41	chr7:66311000-66311200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:66311000-66311200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:66311000-66311200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:66311000-66311200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:66311000-66311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:66311000-66311200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:66311000-66311200	Enhancers	Liver	Liver
48	chr7:66311000-66311200	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:66311000-66311200	Enhancers	Pancreas	Pancrea
50	chr7:66311000-66311200	Enhancers	HMEC	breast

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