Variant report

Variant	rs7577887
Chromosome Location	chr2:10265809-10265810
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10265722-10266603	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr2:10260091-10268046	K562	blood:	n/a	chr2:10262408-10262423 chr2:10262559-10262574 chr2:10262366-10262381 chr2:10260481-10260496 chr2:10262702-10262717 chr2:10262368-10262383 chr2:10262406-10262421 chr2:10260417-10260432
3	POLR2A	chr2:10265256-10266688	PANC-1	pancreas:	n/a	n/a
4	CEBPD	chr2:10265706-10267288	K562	blood:	n/a	n/a
5	POLR2A	chr2:10265210-10266674	GM18526	blood:	n/a	n/a
6	POLR2A	chr2:10260062-10270747	GM19099	blood:	n/a	n/a
7	POLR2A	chr2:10260138-10270672	GM12878	blood:	n/a	n/a
8	PML	chr2:10265722-10267656	K562	blood:	n/a	n/a
9	BCLAF1	chr2:10264529-10267199	K562	blood:	n/a	n/a
10	POLR2A	chr2:10260053-10270807	PBDE	blood:	n/a	n/a
11	POLR2A	chr2:10265257-10266669	GM18951	blood:	n/a	n/a
12	POLR2A	chr2:10265736-10266608	GM12892	blood:	n/a	n/a
13	POLR2A	chr2:10265189-10268042	K562	blood:	n/a	n/a
14	POLR2A	chr2:10265694-10266207	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:10260119-10270949	K562	blood:	n/a	n/a
16	POLR2A	chr2:10265034-10268100	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:10264681-10270286	GM12892	blood:	n/a	n/a
18	POLR2A	chr2:10264985-10266675	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr2:10264786-10266250	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:10264450-10267907	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:10264629-10270665	K562	blood:	n/a	n/a
22	POLR2A	chr2:10265809-10266309	GM12891	blood:	n/a	n/a
23	TEAD4	chr2:10265739-10267543	K562	blood:	n/a	n/a
24	POLR2A	chr2:10265774-10266312	GM12891	blood:	n/a	n/a
25	POLR2A	chr2:10265594-10267671	U87	brain:	n/a	n/a
26	POLR2A	chr2:10265205-10266668	HL-60	blood:	n/a	n/a
27	POLR2A	chr2:10259983-10270632	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr2:10265763-10267822	K562	blood:	n/a	n/a
29	POLR2A	chr2:10265710-10267468	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:10265211-10270375	GM12892	blood:	n/a	n/a
31	POLR2A	chr2:10260177-10269977	K562	blood:	n/a	n/a
32	POLR2A	chr2:10265807-10267316	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:10265002-10266505	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr2:10259858-10266547	K562	blood:	n/a	n/a
35	POLR2A	chr2:10264975-10270403	GM12892	blood:	n/a	n/a
36	POLR2A	chr2:10265798-10267952	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:10265594-10267551	U87	brain:	n/a	n/a
38	POLR2A	chr2:10265369-10267454	K562	blood:	n/a	n/a
39	POLR2A	chr2:10259734-10270545	GM12891	blood:	n/a	n/a
40	POLR2A	chr2:10265198-10267576	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10239900..10242865-chr2:10264207..10266171,2	K562	blood:
2	chr2:10215595..10217272-chr2:10263432..10266266,3	K562	blood:
3	chr2:10259653..10265917-chr2:10585320..10590295,8	MCF-7	breast:
4	chr2:10265098..10266000-chr2:10549288..10549837,2	MCF-7	breast:
5	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:
6	chr2:10265386..10265934-chr6:26056194..26056981,2	Hela-S3	cervix:
7	chr10:104286499..104288000-chr2:10264908..10266572,2	K562	blood:
8	chr2:10265245..10266788-chr2:10587089..10589177,2	K562	blood:
9	chr12:53895001..53895513-chr2:10265551..10266486,2	Hela-S3	cervix:
10	chr2:10265749..10266533-chr9:74979594..74980449,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
RRM2	TF binding region
ENSG00000139546	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000107372	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1130609	0.98[ASN][1000 genomes]
rs13392622	0.98[ASN][1000 genomes]
rs2110643	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34455011	0.87[ASN][1000 genomes]
rs4309551	0.98[ASN][1000 genomes]
rs4668664	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432062	0.92[ASN][1000 genomes]
rs6432064	0.98[ASN][1000 genomes]
rs6432065	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6715884	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6737932	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741290	0.97[ASN][1000 genomes]
rs6759180	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717886	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718215	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729917	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7603436	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7604817	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv873633	chr2:10175442-10266563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv1010706	chr2:10189219-10266995	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 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	chr2:10262800-10270400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr2:10263400-10267000	Weak transcription	Pancreas	Pancrea
3	chr2:10263600-10266400	Weak transcription	Liver	Liver
4	chr2:10263800-10266600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
5	chr2:10263800-10267000	Weak transcription	Right Atrium	heart
6	chr2:10263800-10272200	Weak transcription	Gastric	stomach
7	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
8	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
9	chr2:10264000-10266000	Active TSS	Brain Germinal Matrix	brain
10	chr2:10264000-10266200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:10264000-10266600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:10264000-10267400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:10264200-10268800	Enhancers	Fetal Heart	heart
14	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:10264600-10266000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:10264600-10266200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:10264600-10266800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:10264600-10272000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:10264600-10272800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:10264800-10266000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:10264800-10266000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:10264800-10266200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:10264800-10266400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:10264800-10267200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr2:10264800-10268600	Enhancers	Fetal Intestine Large	intestine
26	chr2:10265000-10266200	Genic enhancers	H9 Cell Line	embryonic stem cell
27	chr2:10265000-10266200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:10265000-10266400	Weak transcription	Stomach Mucosa	stomach
29	chr2:10265000-10266600	Genic enhancers	HMEC	breast
30	chr2:10265000-10267600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
31	chr2:10265000-10267600	Transcr. at gene 5' and 3'	Hela-S3	cervix
32	chr2:10265000-10269800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:10265000-10270000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:10265200-10266000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:10265200-10266000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:10265200-10266200	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:10265200-10266200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:10265200-10266200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:10265200-10266200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:10265200-10266200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:10265200-10266200	Genic enhancers	Osteobl	bone
42	chr2:10265200-10270400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:10265400-10266000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:10265400-10266000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:10265400-10266400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:10265400-10266400	Weak transcription	HSMM	muscle
47	chr2:10265400-10266800	Weak transcription	Fetal Brain Female	brain
48	chr2:10265400-10267000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:10265400-10267000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:10265400-10267000	Weak transcription	Primary hematopoietic stem cells	blood

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