Variant report

Variant	nsv550212
Chromosome Location	chr10:23030282-23086690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:192)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:192 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:23072818-23073316	K562	blood:	n/a	n/a
2	ATF1	chr10:23050539-23050842	K562	blood:	n/a	n/a
3	ATF2	chr10:23054742-23055551	GM12878	blood:	n/a	n/a
4	BCLAF1	chr10:23055025-23055595	GM12878	blood:	n/a	chr10:23055268-23055277
5	BHLHE40	chr10:23031764-23031854	K562	blood:	n/a	n/a
6	BHLHE40	chr10:23054747-23055500	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:23072881-23073064	K562	blood:	n/a	n/a
8	BRCA1	chr10:23043150-23043211	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr10:23060727-23061292	IMR90	lung:	n/a	n/a
10	CEBPB	chr10:23086498-23086573	K562	blood:	n/a	n/a
11	CEBPB	chr10:23065471-23065667	K562	blood:	n/a	chr10:23065540-23065551 chr10:23065523-23065534
12	CEBPB	chr10:23065386-23065708	HepG2	liver:	n/a	chr10:23065540-23065551 chr10:23065523-23065534
13	CEBPB	chr10:23043624-23043916	IMR90	lung:	n/a	n/a
14	CEBPB	chr10:23043644-23043938	HepG2	liver:	n/a	n/a
15	CEBPB	chr10:23044122-23044373	K562	blood:	n/a	n/a
16	CEBPB	chr10:23061113-23061196	A549	lung:	n/a	n/a
17	CEBPB	chr10:23061017-23061202	HepG2	liver:	n/a	n/a
18	CEBPB	chr10:23042507-23042686	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr10:23047990-23048107	A549	lung:	n/a	chr10:23048043-23048056 chr10:23048042-23048059
20	CEBPB	chr10:23065385-23065692	IMR90	lung:	n/a	chr10:23065540-23065551 chr10:23065523-23065534
21	CEBPB	chr10:23043650-23043799	K562	blood:	n/a	n/a
22	CEBPB	chr10:23072776-23073047	K562	blood:	n/a	n/a
23	CEBPB	chr10:23080302-23080309	K562	blood:	n/a	n/a
24	CEBPB	chr10:23065395-23065705	A549	lung:	n/a	chr10:23065540-23065551 chr10:23065523-23065534
25	CEBPB	chr10:23068457-23068718	HepG2	liver:	n/a	n/a
26	CEBPB	chr10:23043630-23043909	A549	lung:	n/a	n/a
27	CEBPB	chr10:23072761-23073112	K562	blood:	n/a	n/a
28	CHD2	chr10:23054936-23055496	GM12878	blood:	n/a	chr10:23055177-23055184
29	CTCF	chr10:23032600-23032750	A549	lung:	n/a	n/a
30	CTCF	chr10:23057260-23057410	GM12870	blood:	n/a	n/a
31	CTCF	chr10:23049000-23049150	GM12865	blood:	n/a	n/a
32	CTCF	chr10:23055820-23055970	GM12871	blood:	n/a	n/a
33	CTCF	chr10:23070181-23070228	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr10:23061396-23061479	MCF-7	breast:	n/a	n/a
35	CTCF	chr10:23072795-23073025	K562	blood:	n/a	n/a
36	CTCF	chr10:23032560-23032710	GM12874	blood:	n/a	n/a
37	CTCF	chr10:23032580-23032730	GM12873	blood:	n/a	n/a
38	CTCF	chr10:23057607-23057638	GM13976	blood:	n/a	n/a
39	CTCF	chr10:23032580-23032730	MCF-7	breast:	n/a	n/a
40	CUX1	chr10:23063577-23063630	K562	blood:	n/a	n/a
41	CUX1	chr10:23054698-23055565	GM12878	blood:	n/a	n/a
42	CUX1	chr10:23041343-23041543	GM12878	blood:	n/a	n/a
43	CUX1	chr10:23040808-23040831	K562	blood:	n/a	n/a
44	CUX1	chr10:23031609-23031884	K562	blood:	n/a	n/a
45	E2F4	chr10:23075964-23076095	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr10:23057518-23057596	GM12878	blood:	n/a	n/a
47	EBF1	chr10:23068293-23068434	GM12878	blood:	n/a	chr10:23068410-23068419 chr10:23068408-23068421
48	EBF1	chr10:23031815-23031817	GM12878	blood:	n/a	n/a
49	EBF1	chr10:23055172-23055469	GM12878	blood:	n/a	n/a
50	EBF1	chr10:23041386-23041534	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:23002586..23004698-chr10:23069532..23071170,2	K562	blood:
2	chr10:23030010..23032261-chr10:23040421..23043665,3	K562	blood:
3	chr10:23052115..23054835-chr10:23068399..23071194,3	MCF-7	breast:
4	chr10:23077180..23079268-chr10:23081726..23083280,2	MCF-7	breast:
5	chr10:23030110..23031615-chr10:23040326..23042788,2	K562	blood:
6	chr10:23052115..23054835-chr10:23068399..23071194,3	MCF-7	breast:
7	chr10:23063472..23065869-chr10:23066281..23069279,2	MCF-7	breast:
8	chr10:23080355..23083056-chr10:23096446..23098590,2	K562	blood:
9	chr10:23063472..23065869-chr10:23066281..23069279,2	MCF-7	breast:
10	chr10:23076401..23079823-chr10:23343221..23346091,3	K562	blood:
11	chr10:23016693..23018672-chr10:23040807..23043389,2	K562	blood:
12	chr10:23039009..23041955-chr10:23046349..23048617,2	MCF-7	breast:
13	chr10:22989774..22994119-chr10:23044705..23049476,4	K562	blood:
14	chr10:23030110..23031615-chr10:23040326..23042788,2	K562	blood:
15	chr10:23077180..23079268-chr10:23081726..23083280,2	MCF-7	breast:
16	chr10:23030010..23032261-chr10:23040421..23043665,3	K562	blood:
17	chr10:23039009..23041955-chr10:23046349..23048617,2	MCF-7	breast:
18	chr10:22944721..22947461-chr10:23031170..23034103,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-413P	TF binding region
ENSG00000150867	chromatin interactions

Extended variants
information (count: 1777 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:1777 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7091875	chr10:23030282-23030283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74327635	chr10:23030346-23030347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181372603	chr10:23030360-23030361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548417118	chr10:23030385-23030386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376156313	chr10:23030394-23030395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184163269	chr10:23030411-23030412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189243226	chr10:23030423-23030424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558090356	chr10:23030469-23030470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71510930	chr10:23030470-23030471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386370920	chr10:23030480-23030481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34121252	chr10:23030481-23030482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546824243	chr10:23030511-23030512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373686554	chr10:23030514-23030515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529178913	chr10:23030518-23030519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531307827	chr10:23030523-23030524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549707900	chr10:23030543-23030544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139613265	chr10:23030569-23030570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552183178	chr10:23030657-23030658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112217741	chr10:23030702-23030703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537917413	chr10:23030736-23030737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554381918	chr10:23030768-23030769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574933938	chr10:23030817-23030818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549221086	chr10:23030818-23030819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554386839	chr10:23030847-23030848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181643910	chr10:23030868-23030869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187294955	chr10:23030869-23030870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562518042	chr10:23030876-23030877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149357646	chr10:23030902-23030903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544419056	chr10:23030917-23030918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144676975	chr10:23030918-23030919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531431514	chr10:23030969-23030970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116012848	chr10:23030972-23030973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140020924	chr10:23030975-23030976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145456329	chr10:23030993-23030994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192139532	chr10:23030994-23030995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552520982	chr10:23031014-23031015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567052511	chr10:23031065-23031066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28558805	chr10:23031070-23031071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568835499	chr10:23031107-23031108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531216240	chr10:23031173-23031174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182026806	chr10:23031174-23031175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534443973	chr10:23031217-23031218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs568054601	chr10:23031236-23031237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs114628021	chr10:23031370-23031371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147258791	chr10:23031372-23031373	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185179211	chr10:23031494-23031495	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549316738	chr10:23031522-23031523	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189696494	chr10:23031538-23031539	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182675354	chr10:23031569-23031570	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs575984145	chr10:23031592-23031593	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23028000-23031400	Weak transcription	Adipose Nuclei	Adipose
2	chr10:23028200-23031000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr10:23028600-23031000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr10:23031000-23031200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr10:23031000-23032000	Enhancers	GM12878-XiMat	blood
6	chr10:23031000-23032400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:23031000-23033400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr10:23031200-23031600	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:23031200-23032200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:23031200-23032800	Enhancers	Primary B cells from cord blood	blood
11	chr10:23031200-23033200	Enhancers	Primary B cells from peripheral blood	blood
12	chr10:23031200-23033200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr10:23031400-23031600	Enhancers	Adipose Nuclei	Adipose
14	chr10:23031400-23032000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:23031400-23032000	Enhancers	K562	blood
16	chr10:23032000-23032200	ZNF genes & repeats	GM12878-XiMat	blood
17	chr10:23032200-23032400	Enhancers	GM12878-XiMat	blood
18	chr10:23033200-23033400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr10:23038600-23039800	Enhancers	HUVEC	blood vessel
20	chr10:23039800-23042000	Weak transcription	HUVEC	blood vessel
21	chr10:23040600-23041000	Enhancers	Fetal Thymus	thymus
22	chr10:23040600-23041000	Enhancers	Ovary	ovary
23	chr10:23040600-23043000	Enhancers	Brain Substantia Nigra	brain
24	chr10:23040800-23041000	Enhancers	Spleen	Spleen
25	chr10:23041000-23041600	Enhancers	GM12878-XiMat	blood
26	chr10:23041000-23043600	Enhancers	Brain Hippocampus Middle	brain
27	chr10:23041600-23043400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr10:23042000-23043400	Enhancers	Brain Anterior Caudate	brain
29	chr10:23042000-23043600	Enhancers	HUVEC	blood vessel
30	chr10:23042400-23042600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:23042600-23043000	Enhancers	Spleen	Spleen
32	chr10:23042600-23043600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:23042600-23043600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:23042600-23043600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:23042600-23043600	Enhancers	Adipose Nuclei	Adipose
36	chr10:23042600-23043600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr10:23042800-23043600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr10:23042800-23043800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr10:23043000-23043200	Weak transcription	Spleen	Spleen
40	chr10:23043000-23043400	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr10:23043000-23048200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:23043200-23043400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:23043200-23043400	Enhancers	Ovary	ovary
44	chr10:23043200-23043600	Enhancers	Spleen	Spleen
45	chr10:23043400-23045600	Weak transcription	Brain Substantia Nigra	brain
46	chr10:23043400-23047000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr10:23043400-23050200	Weak transcription	Brain Anterior Caudate	brain
48	chr10:23043600-23047200	Weak transcription	Brain Hippocampus Middle	brain
49	chr10:23045600-23046000	Enhancers	Brain Angular Gyrus	brain
50	chr10:23045600-23046000	Enhancers	Brain Substantia Nigra	brain

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