Variant report

Variant	nsv947605
Chromosome Location	chr10:37432194-37615294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:414)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr10:37514086-37514510	A549	lung:	n/a	n/a
2	BHLHE40	chr10:37528439-37528523	GM12878	blood:	n/a	n/a
3	BHLHE40	chr10:37529354-37529375	GM12878	blood:	n/a	n/a
4	BRCA1	chr10:37523826-37523908	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr10:37611443-37611736	K562	blood:	n/a	n/a
6	CBX3	chr10:37611425-37611719	K562	blood:	n/a	n/a
7	CBX3	chr10:37611416-37611708	HCT-116	colon:	n/a	n/a
8	CEBPB	chr10:37544367-37544559	H1-hESC	embryonic stem cell:	n/a	chr10:37544479-37544490
9	CEBPB	chr10:37544337-37544635	K562	blood:	n/a	chr10:37544479-37544490
10	CEBPB	chr10:37487363-37487743	A549	lung:	n/a	n/a
11	CEBPB	chr10:37578887-37579453	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr10:37556383-37556501	HepG2	liver:	n/a	chr10:37556410-37556421
13	CEBPB	chr10:37487370-37487673	HepG2	liver:	n/a	n/a
14	CEBPB	chr10:37487403-37487685	A549	lung:	n/a	n/a
15	CEBPB	chr10:37498007-37498168	HepG2	liver:	n/a	chr10:37498022-37498033
16	CEBPB	chr10:37579020-37579324	HepG2	liver:	n/a	n/a
17	CEBPB	chr10:37578849-37579571	A549	lung:	n/a	n/a
18	CEBPB	chr10:37578823-37579504	MCF-7	breast:	n/a	n/a
19	CEBPB	chr10:37523738-37523938	A549	lung:	n/a	n/a
20	CEBPB	chr10:37579022-37579510	A549	lung:	n/a	n/a
21	CEBPB	chr10:37544301-37544662	A549	lung:	n/a	chr10:37544479-37544490
22	CEBPB	chr10:37578997-37579437	A549	lung:	n/a	n/a
23	CEBPB	chr10:37596005-37596216	IMR90	lung:	n/a	chr10:37596134-37596145 chr10:37596134-37596147
24	CEBPB	chr10:37578818-37579454	MCF-7	breast:	n/a	n/a
25	CEBPB	chr10:37514091-37514499	A549	lung:	n/a	n/a
26	CEBPB	chr10:37544311-37544666	IMR90	lung:	n/a	chr10:37544479-37544490
27	CEBPB	chr10:37497923-37498188	A549	lung:	n/a	chr10:37498022-37498033
28	CEBPB	chr10:37544317-37544671	HepG2	liver:	n/a	chr10:37544479-37544490
29	CEBPZ	chr10:37611528-37611728	HepG2	liver:	n/a	n/a
30	CTCF	chr10:37552364-37552568	A549	lung:	n/a	n/a
31	CTCF	chr10:37552380-37552530	HepG2	liver:	n/a	n/a
32	CTCF	chr10:37435417-37435570	LNCaP	prostate:	n/a	n/a
33	CTCF	chr10:37535640-37535790	HepG2	liver:	n/a	n/a
34	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
35	CTCF	chr10:37552327-37552608	T-47D	breast:	n/a	n/a
36	CTCF	chr10:37435386-37435516	MCF-7	breast:	n/a	n/a
37	CTCF	chr10:37435447-37435520	ProgFib	skin:	n/a	n/a
38	CTCF	chr10:37545228-37545259	Lung_OC	lung:	n/a	n/a
39	CTCF	chr10:37566079-37566122	LNCaP	prostate:	n/a	n/a
40	CTCF	chr10:37552340-37552490	GM06990	blood:	n/a	n/a
41	CTCF	chr10:37535500-37535650	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr10:37435420-37435570	Caco-2	colon:	n/a	n/a
43	CTCF	chr10:37552352-37552467	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr10:37552360-37552510	HepG2	liver:	n/a	n/a
45	CTCF	chr10:37535665-37535874	MCF-7	breast:	n/a	n/a
46	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
47	CTCF	chr10:37602920-37603070	WI-38	lung:	n/a	n/a
48	CTCF	chr10:37535774-37535816	MCF-7	breast:	n/a	n/a
49	CTCF	chr10:37447106-37447182	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr10:37609631-37609729	GM10248	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:37535703..37536248-chr10:37723129..37723712,2	MCF-7	breast:
2	chr10:37188427..37189360-chr10:37552086..37552688,3	MCF-7	breast:
3	chr10:37579541..37581637-chr10:37590281..37592678,2	MCF-7	breast:
4	chr10:37590754..37593575-chr10:37595057..37598517,3	MCF-7	breast:
5	chr10:37608430..37610382-chr10:37610612..37613030,2	MCF-7	breast:
6	chr10:37608430..37610382-chr10:37610612..37613030,2	MCF-7	breast:
7	chr10:37516770..37517707-chr4:4543279..4544231,2	MCF-7	breast:
8	chr10:37590754..37593575-chr10:37595057..37598517,3	MCF-7	breast:
9	chr10:37188300..37189549-chr10:37551973..37553021,9	MCF-7	breast:
10	chr10:37177695..37178496-chr10:37551972..37552564,2	MCF-7	breast:
11	chr10:37188694..37189693-chr10:37435453..37435966,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30A-1	chr10:37530876-37530977	ENSG00000234918
2	lnc-ANKRD30A-1	chr10:37529815-37529944	ENSG00000234918
3	lnc-MTRNR2L7-2	chr10:37594373-37594565	NONHSAT012767
4	lnc-MTRNR2L7-2	chr10:37595488-37595550	NONHSAT012767
5	lnc-ANKRD30A-1	chr10:37529150-37529944	NONHSAT012761
6	lnc-ANKRD30A-8	chr10:37570882-37570983	NONHSAT012764
7	lnc-ANKRD30A-9	chr10:37586326-37586615	NONHSAT012765
8	lnc-ANKRD30A-1	chr10:37530876-37530977	NONHSAT012761
9	lnc-ANKRD30A-8	chr10:37570105-37570207	NONHSAT012764
10	lnc-ANKRD30A-1	chr10:37530099-37530201	ENSG00000234918
11	lnc-ANKRD30A-8	chr10:37569821-37569950	NONHSAT012764
12	lnc-ANKRD30A-1	chr10:37530099-37530201	NONHSAT012761

No data

Variant related genes	Relation type
ENSG00000252621	TF binding region
ENSG00000234918	TF binding region
ANKRD30A	TF binding region
RN7SL314P	TF binding region
LINC00993	TF binding region
ATP8A2P1	TF binding region
ENSG00000247708	chromatin interactions
ENSG00000168818	chromatin interactions
ENSG00000235687	chromatin interactions
ENSG00000252621	chromatin interactions

Extended variants
information (count: 4166 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:4166 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559848008	chr10:37434621-37434622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528617060	chr10:37434656-37434657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376606454	chr10:37434664-37434665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs207470807	chr10:37434680-37434681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548419055	chr10:37434696-37434697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547913764	chr10:37434707-37434708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77293852	chr10:37434717-37434718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79404099	chr10:37434721-37434722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150715575	chr10:37434722-37434723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80218639	chr10:37434740-37434741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74773555	chr10:37434742-37434743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74535533	chr10:37434747-37434748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568625077	chr10:37434751-37434752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78073867	chr10:37434755-37434756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77836096	chr10:37434756-37434757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77890855	chr10:37434800-37434801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78591687	chr10:37434804-37434805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187683305	chr10:37434809-37434810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75055307	chr10:37434813-37434814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370143017	chr10:37434814-37434815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551256045	chr10:37434817-37434818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74392916	chr10:37434823-37434824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77143875	chr10:37434890-37434891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570815556	chr10:37434891-37434892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79570721	chr10:37434898-37434899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79544159	chr10:37434909-37434910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75749506	chr10:37434918-37434919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76920590	chr10:37434921-37434922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539007244	chr10:37434935-37434936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79818095	chr10:37434938-37434939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79265153	chr10:37434945-37434946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77114632	chr10:37434951-37434952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76336998	chr10:37434953-37434954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75873377	chr10:37434958-37434959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72787526	chr10:37434989-37434990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552564777	chr10:37435003-37435004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540412350	chr10:37435005-37435006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72787528	chr10:37435012-37435013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72787529	chr10:37435018-37435019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372748922	chr10:37435043-37435044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562376708	chr10:37435044-37435045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572576473	chr10:37435054-37435055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74794650	chr10:37435065-37435066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143003679	chr10:37435099-37435100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74605960	chr10:37435112-37435113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78086286	chr10:37435113-37435114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370276213	chr10:37435129-37435130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75280833	chr10:37435149-37435150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77932629	chr10:37435185-37435186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78659201	chr10:37435190-37435191	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37434600-37436000	Enhancers	A549	lung
2	chr10:37435200-37435600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
3	chr10:37435200-37435800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr10:37435200-37435800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr10:37435600-37436200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr10:37436000-37439000	Weak transcription	A549	lung
7	chr10:37439000-37439400	Active TSS	A549	lung
8	chr10:37439400-37441200	Weak transcription	A549	lung
9	chr10:37441200-37441400	Enhancers	A549	lung
10	chr10:37446400-37447200	Weak transcription	A549	lung
11	chr10:37447800-37448400	ZNF genes & repeats	A549	lung
12	chr10:37448400-37454800	Weak transcription	A549	lung
13	chr10:37454800-37455200	Enhancers	A549	lung
14	chr10:37479600-37490800	Weak transcription	A549	lung
15	chr10:37490800-37491200	Strong transcription	A549	lung
16	chr10:37491200-37507600	Weak transcription	A549	lung
17	chr10:37504200-37504600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr10:37507600-37507800	Enhancers	A549	lung
19	chr10:37507800-37508200	Active TSS	A549	lung
20	chr10:37508200-37508800	Flanking Active TSS	A549	lung
21	chr10:37508800-37513600	Weak transcription	A549	lung
22	chr10:37513600-37514400	Active TSS	A549	lung
23	chr10:37514400-37514600	Flanking Active TSS	A549	lung
24	chr10:37514600-37515000	Enhancers	A549	lung
25	chr10:37515000-37515400	Weak transcription	A549	lung
26	chr10:37515400-37515800	ZNF genes & repeats	A549	lung
27	chr10:37515800-37517600	Weak transcription	A549	lung
28	chr10:37525200-37525400	Enhancers	Gastric	stomach
29	chr10:37525200-37525400	ZNF genes & repeats	A549	lung
30	chr10:37531200-37532000	Enhancers	A549	lung
31	chr10:37537200-37537400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:37537800-37538000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:37544600-37545400	Enhancers	HepG2	liver
34	chr10:37546600-37547400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr10:37548800-37549400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr10:37550200-37550800	Enhancers	A549	lung
37	chr10:37550800-37551000	Flanking Active TSS	A549	lung
38	chr10:37550800-37551400	Enhancers	Rectal Smooth Muscle	rectum
39	chr10:37551000-37551200	Enhancers	A549	lung
40	chr10:37551200-37551400	Flanking Active TSS	A549	lung
41	chr10:37551400-37552600	Weak transcription	A549	lung
42	chr10:37552600-37553800	Enhancers	A549	lung
43	chr10:37553200-37553600	Active TSS	Fetal Heart	heart
44	chr10:37553600-37558200	Weak transcription	Fetal Heart	heart
45	chr10:37553800-37558000	Weak transcription	A549	lung
46	chr10:37554400-37554800	Enhancers	Adipose Nuclei	Adipose
47	chr10:37556800-37557000	Enhancers	Adipose Nuclei	Adipose
48	chr10:37558000-37559400	Enhancers	Colon Smooth Muscle	Colon
49	chr10:37558000-37559400	Enhancers	A549	lung
50	chr10:37564200-37564800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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