Variant report

Variant	rs527512643
Chromosome Location	chr10:6243685-6243686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:6243420-6243926	H1-hESC	embryonic stem cell:	n/a	chr10:6243866-6243875
2	NFATC1	chr10:6243455-6243897	GM12878	blood:	n/a	n/a
3	CTCF	chr10:6243600-6243763	Pancreas_OC	pancreas:	n/a	n/a
4	RFX5	chr10:6243554-6243896	GM12878	blood:	n/a	n/a
5	MAX	chr10:6243556-6243756	K562	blood:	n/a	n/a
6	EP300	chr10:6243410-6243758	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr10:6243680-6243830	GM12875	blood:	n/a	n/a
8	MXI1	chr10:6242644-6247076	SK-N-SH	brain:	n/a	n/a
9	HEY1	chr10:6242414-6245097	HepG2	liver:	n/a	chr10:6243015-6243030 chr10:6243778-6243793
10	YY1	chr10:6243462-6243839	GM12892	blood:	n/a	chr10:6243777-6243791
11	BHLHE40	chr10:6243473-6243779	HepG2	liver:	n/a	chr10:6243555-6243571
12	CTCF	chr10:6243631-6243733	IMR90	lung:	n/a	n/a
13	POLR2A	chr10:6243426-6243923	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:6243621-6243693	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:6243374-6243929	HepG2	liver:	n/a	n/a
16	TCF12	chr10:6243574-6247500	A549	lung:	n/a	chr10:6244120-6244127 chr10:6244121-6244131
17	TAF1	chr10:6243470-6243846	GM12878	blood:	n/a	n/a
18	CTCF	chr10:6243640-6243790	RPTEC	kidney:	n/a	n/a
19	MAX	chr10:6242660-6244139	HepG2	liver:	n/a	chr10:6243866-6243875
20	POLR2A	chr10:6243528-6243926	Gliobla	brain:	n/a	n/a
21	RAD21	chr10:6243486-6246230	SK-N-SH	brain:	n/a	chr10:6244125-6244135
22	CTCF	chr10:6243540-6243690	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr10:6243560-6243710	GM12874	blood:	n/a	n/a
24	ZBTB7A	chr10:6242832-6243737	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr10:6243580-6243730	HEEpiC	esophagus:	n/a	n/a
26	POLR2A	chr10:6243564-6244098	K562	blood:	n/a	n/a
27	FOXP2	chr10:6243450-6243863	PFSK-1	brain:	n/a	n/a
28	CTCF	chr10:6243620-6243770	GM12870	blood:	n/a	n/a
29	CTCF	chr10:6243515-6243890	GM19238	blood:	n/a	n/a
30	CTCF	chr10:6243650-6243756	ProgFib	skin:	n/a	n/a
31	ELK1	chr10:6243589-6243907	GM12878	blood:	n/a	n/a
32	BCL3	chr10:6243556-6244089	A549	lung:	n/a	n/a
33	POLR2A	chr10:6243419-6243852	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr10:6243416-6243921	A549	lung:	n/a	n/a
35	MAX	chr10:6242532-6244027	GM12878	blood:	n/a	chr10:6243866-6243875
36	POLR2A	chr10:6243636-6243786	MCF-7	breast:	n/a	n/a
37	POLR2A	chr10:6243439-6243878	GM12891	blood:	n/a	n/a
38	SMC3	chr10:6242512-6247173	SK-N-SH	brain:	n/a	chr10:6245922-6245932 chr10:6243015-6243025
39	CTCF	chr10:6243580-6243730	AG04449	skin:	n/a	n/a
40	TBP	chr10:6243560-6243831	GM12878	blood:	n/a	n/a
41	CTCF	chr10:6243560-6243710	GM12865	blood:	n/a	n/a
42	MXI1	chr10:6243449-6244056	IMR90	lung:	n/a	n/a
43	MYC	chr10:6243607-6243747	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr10:6243517-6244422	HepG2	liver:	n/a	n/a
45	CTCF	chr10:6243600-6243750	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr10:6243606-6243784	Fibrobl	skin:	n/a	n/a
47	CHD1	chr10:6243582-6243797	GM12878	blood:	n/a	n/a
48	MAZ	chr10:6242398-6243967	GM12878	blood:	n/a	chr10:6243866-6243875
49	CTCF	chr10:6243631-6243757	MCF-7	breast:	n/a	n/a
50	RUNX3	chr10:6243509-6244011	GM12878	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
2	chr10:6183735..6189299-chr10:6241759..6246920,10	MCF-7	breast:
3	chr10:6193518..6195996-chr10:6241964..6244930,2	MCF-7	breast:
4	chr10:6152733..6154775-chr10:6241861..6244257,2	K562	blood:
5	chr10:5935195..5937102-chr10:6243588..6245241,2	MCF-7	breast:
6	chr10:6183938..6190482-chr10:6242008..6247032,17	MCF-7	breast:
7	chr10:6149065..6151002-chr10:6243111..6244731,2	K562	blood:
8	chr10:6137316..6139736-chr10:6243153..6245060,3	MCF-7	breast:
9	chr10:6243668..6247308-chr10:6319585..6323356,5	MCF-7	breast:
10	chr10:6149017..6157788-chr10:6241652..6246346,17	MCF-7	breast:
11	chr10:6242187..6248014-chr10:6262246..6271624,18	MCF-7	breast:
12	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
13	chr10:6149112..6154904-chr10:6241492..6247373,13	MCF-7	breast:
14	chr10:6242059..6244389-chr6:31867421..31869441,2	MCF-7	breast:
15	chr10:6242978..6244543-chr10:129751150..129752763,2	MCF-7	breast:
16	chr10:6242075..6244740-chr10:27530620..27532882,2	MCF-7	breast:
17	chr10:6237461..6239091-chr10:6241197..6244129,2	K562	blood:
18	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB3	TF binding region
ENSG00000215244	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000263628	Chromatin interaction
ENSG00000134452	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1041039	chr10:6217724-6354858	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv894832	chr10:6237156-6253651	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv894833	chr10:6237156-6261704	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv894834	chr10:6237156-6272169	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv521145	chr10:6241803-6246678	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv894835	chr10:6242176-6268422	Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv3333968	chr10:6242696-6244844	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
2	chr10:6242200-6244000	Enhancers	Fetal Heart	heart
3	chr10:6242400-6244000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:6242400-6244600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr10:6242400-6244600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:6242400-6244800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:6242600-6243800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr10:6242600-6243800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr10:6242600-6243800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:6242600-6243800	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr10:6242600-6243800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:6242600-6243800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr10:6242600-6243800	Active TSS	Brain Cingulate Gyrus	brain
14	chr10:6242600-6243800	Active TSS	Thymus	Thymus
15	chr10:6242600-6243800	Active TSS	GM12878-XiMat	blood
16	chr10:6242600-6244000	Active TSS	Brain Angular Gyrus	brain
17	chr10:6242600-6244000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr10:6242600-6244000	Active TSS	Rectal Smooth Muscle	rectum
19	chr10:6242600-6244000	Active TSS	HepG2	liver
20	chr10:6242600-6244200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr10:6242600-6244600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr10:6242600-6244600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr10:6242600-6244800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr10:6242600-6244800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr10:6242600-6246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:6242800-6243800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr10:6242800-6243800	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr10:6242800-6243800	Active TSS	NHDF-Ad	bronchial
29	chr10:6242800-6244000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:6242800-6244000	Active TSS	Brain Anterior Caudate	brain
31	chr10:6242800-6244000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:6242800-6244000	Active TSS	Brain Substantia Nigra	brain
33	chr10:6242800-6244800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:6242800-6244800	Flanking Active TSS	Colonic Mucosa	Colon
35	chr10:6242800-6245400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr10:6242800-6245400	Flanking Active TSS	HMEC	breast
37	chr10:6242800-6246400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr10:6242800-6246400	Active TSS	Colon Smooth Muscle	Colon
39	chr10:6242800-6246400	Active TSS	Ovary	ovary
40	chr10:6242800-6246600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr10:6242800-6246600	Active TSS	Psoas Muscle	Psoas
42	chr10:6242800-6247000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr10:6242800-6247400	Active TSS	Fetal Kidney	kidney
44	chr10:6242800-6247800	Active TSS	Aorta	Aorta
45	chr10:6243000-6243800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:6243000-6243800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr10:6243000-6243800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:6243000-6243800	Active TSS	Primary T cells from cord blood	blood
49	chr10:6243000-6243800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:6243000-6243800	Active TSS	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links