Variant report

Variant	nsv456019
Chromosome Location	chr2:30968228-30984850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:30979164-30979271	K562	blood:	n/a	n/a
2	ATF1	chr2:30979033-30979379	K562	blood:	n/a	n/a
3	ATF3	chr2:30978993-30979413	K562	blood:	n/a	n/a
4	BHLHE40	chr2:30979132-30979226	K562	blood:	n/a	n/a
5	CBX3	chr2:30978961-30979339	K562	blood:	n/a	n/a
6	CCNT2	chr2:30978893-30979241	K562	blood:	n/a	n/a
7	CTCF	chr2:30970118-30970329	Pancreas_OC	pancreas:	n/a	chr2:30970219-30970228
8	CTCF	chr2:30970231-30970245	Lung_OC	lung:	n/a	n/a
9	CTCF	chr2:30968519-30968554	K562	blood:	n/a	n/a
10	CTCF	chr2:30970180-30970330	HCT-116	colon:	n/a	chr2:30970219-30970228
11	CTCF	chr2:30970100-30970250	HepG2	liver:	n/a	chr2:30970219-30970228
12	CTCF	chr2:30970129-30970346	MCF-7	breast:	n/a	chr2:30970219-30970228
13	CTCF	chr2:30970035-30970431	MCF-7	breast:	n/a	chr2:30970219-30970228
14	CTCF	chr2:30970257-30970291	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr2:30970160-30970310	GM12873	blood:	n/a	chr2:30970219-30970228
16	CTCF	chr2:30968500-30968650	Caco-2	colon:	n/a	n/a
17	CTCF	chr2:30983780-30983930	GM12864	blood:	n/a	n/a
18	CTCF	chr2:30970140-30970290	MCF-7	breast:	n/a	chr2:30970219-30970228
19	CTCF	chr2:30970120-30970270	SAEC	small airway:	n/a	chr2:30970219-30970228
20	CTCF	chr2:30984100-30984250	GM12873	blood:	n/a	n/a
21	CTCF	chr2:30983940-30984090	HepG2	liver:	n/a	n/a
22	CTCF	chr2:30968521-30968562	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:30968516-30968569	LNCaP	prostate:	n/a	n/a
24	CTCF	chr2:30982600-30982750	HEK293	kidney:	n/a	chr2:30982700-30982710
25	CTCF	chr2:30983780-30983930	GM12865	blood:	n/a	n/a
26	CTCF	chr2:30970117-30970329	MCF-7	breast:	n/a	chr2:30970219-30970228
27	CTCF	chr2:30983740-30983990	GM12867	blood:	n/a	n/a
28	CTCF	chr2:30970140-30970290	Caco-2	colon:	n/a	chr2:30970219-30970228
29	CTCF	chr2:30981220-30981370	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr2:30970260-30970410	A549	lung:	n/a	n/a
31	CTCF	chr2:30970128-30970308	MCF-7	breast:	n/a	chr2:30970219-30970228
32	CTCF	chr2:30972863-30972967	Lung_OC	lung:	n/a	n/a
33	CTCF	chr2:30981280-30981430	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr2:30970200-30970350	HepG2	liver:	n/a	chr2:30970219-30970228
35	CTCF	chr2:30970107-30970344	MCF-7	breast:	n/a	chr2:30970219-30970228
36	CTCF	chr2:30983740-30984010	GM12872	blood:	n/a	n/a
37	CTCF	chr2:30968516-30968520	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:30970141-30970319	MCF-7	breast:	n/a	chr2:30970219-30970228
39	CUX1	chr2:30979082-30979355	K562	blood:	n/a	n/a
40	ELF1	chr2:30978744-30979569	MCF-7	breast:	n/a	chr2:30979061-30979074 chr2:30979062-30979073 chr2:30979063-30979072
41	ELF1	chr2:30978864-30979268	K562	blood:	n/a	chr2:30979061-30979074 chr2:30979062-30979073 chr2:30979063-30979072
42	ELF1	chr2:30978718-30979501	MCF-7	breast:	n/a	chr2:30979061-30979074 chr2:30979062-30979073 chr2:30979063-30979072
43	EP300	chr2:30978840-30979340	SK-N-SH_RA	brain:	n/a	chr2:30979219-30979228 chr2:30979063-30979070
44	EP300	chr2:30978996-30979370	K562	blood:	n/a	chr2:30979219-30979228 chr2:30979063-30979070
45	EP300	chr2:30978394-30980285	SK-N-SH	brain:	n/a	chr2:30979544-30979558 chr2:30979219-30979228 chr2:30979063-30979070
46	EP300	chr2:30980982-30981575	SK-N-SH_RA	brain:	n/a	chr2:30981141-30981155 chr2:30981012-30981026 chr2:30981547-30981563
47	EP300	chr2:30978759-30979291	MCF-7	breast:	n/a	chr2:30979219-30979228 chr2:30979063-30979070
48	EP300	chr2:30978805-30979265	T-47D	breast:	n/a	chr2:30979219-30979228 chr2:30979063-30979070
49	EP300	chr2:30978817-30979378	SK-N-SH_RA	brain:	n/a	chr2:30979219-30979228 chr2:30979063-30979070
50	EP300	chr2:30981051-30981505	SK-N-SH_RA	brain:	n/a	chr2:30981141-30981155

No.	Distal block	Cell Line	Cell type
1	chr2:30969086..30972253-chr2:30973250..30976554,4	K562	blood:
2	chr2:30961063..30962605-chr2:30966715..30968285,2	K562	blood:
3	chr2:30967775..30969478-chr2:30977702..30980114,2	MCF-7	breast:
4	chr2:30967775..30969478-chr2:30977702..30980114,2	MCF-7	breast:
5	chr2:30977562..30982184-chr2:31026694..31034377,7	MCF-7	breast:
6	chr2:30969086..30972253-chr2:30973250..30976554,4	K562	blood:
7	chr2:30970154..30970707-chr2:31084669..31085548,2	MCF-7	breast:
8	chr2:30978342..30980549-chr2:31003793..31005445,2	MCF-7	breast:
9	chr2:30983764..30986545-chr2:30993398..30995373,2	K562	blood:
10	chr2:30980803..30983163-chr2:30994133..30996203,2	MCF-7	breast:
11	chr2:30962359..30964293-chr2:30967251..30969409,2	MCF-7	breast:
12	chr2:30974420..30976391-chr2:30977915..30980887,2	K562	blood:
13	chr2:30974420..30976391-chr2:30977915..30980887,2	K562	blood:
14	chr2:30961063..30963636-chr2:30966785..30969337,2	K562	blood:
15	chr2:30974357..30976391-chr2:30976860..30980887,3	K562	blood:
16	chr2:30971328..30973922-chr2:30977969..30979743,3	MCF-7	breast:
17	chr2:30971328..30973922-chr2:30977969..30979743,3	MCF-7	breast:
18	chr2:30974357..30976391-chr2:30976860..30980887,3	K562	blood:
19	chr2:30974995..30977156-chr2:31012471..31013998,2	MCF-7	breast:
20	chr2:30977154..30980117-chr2:31067172..31070017,2	MCF-7	breast:
21	chr2:30974857..30977136-chr2:31030936..31033444,2	MCF-7	breast:
22	chr2:30980741..30983020-chr2:30986437..30988713,2	K562	blood:
23	chr2:30978882..30982474-chr2:30994656..30997998,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GALNT14-1	chr2:30969310-30969567	NONHSAT069919

Variant related genes	Relation type
CAPN13	TF binding region
ENSG00000230118	TF binding region
ENSG00000162949	chromatin interactions
ENSG00000230118	chromatin interactions

Extended variants
information (count: 851 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7567391	chr2:30968228-30968229	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540028501	chr2:30968262-30968263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34684911	chr2:30968269-30968270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563927760	chr2:30968293-30968294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553647777	chr2:30968312-30968313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150139940	chr2:30968334-30968335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534742367	chr2:30968371-30968372	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554385674	chr2:30968374-30968375	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs574349527	chr2:30968383-30968384	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs536648905	chr2:30968387-30968388	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs557182744	chr2:30968401-30968402	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs576767817	chr2:30968437-30968438	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs374788820	chr2:30968461-30968462	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs180951285	chr2:30968491-30968492	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138590109	chr2:30968493-30968494	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375976353	chr2:30968516-30968517	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs116454388	chr2:30968517-30968518	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371398740	chr2:30968523-30968524	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373614919	chr2:30968538-30968539	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs374704524	chr2:30968544-30968545	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs368841104	chr2:30968555-30968556	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183879735	chr2:30968560-30968561	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372929475	chr2:30968561-30968562	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs13394144	chr2:30968573-30968574	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs369623303	chr2:30968576-30968577	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs141808676	chr2:30968577-30968578	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs574214021	chr2:30968580-30968581	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs372257495	chr2:30968600-30968601	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs377750011	chr2:30968622-30968623	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371215737	chr2:30968641-30968642	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs558730599	chr2:30968642-30968643	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs563145647	chr2:30968650-30968651	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533693411	chr2:30968672-30968673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547197773	chr2:30968687-30968688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373320614	chr2:30968688-30968689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145578840	chr2:30968739-30968740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548224555	chr2:30968742-30968743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376315761	chr2:30968743-30968744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538136903	chr2:30968761-30968762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568075039	chr2:30968771-30968772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57880021	chr2:30968781-30968782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560524729	chr2:30968784-30968785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537043686	chr2:30968797-30968798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4245770	chr2:30968848-30968849	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576705765	chr2:30968852-30968853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545776079	chr2:30968853-30968854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568181865	chr2:30968868-30968869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528995703	chr2:30968907-30968908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561956	chr2:30968929-30968930	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552865885	chr2:30968953-30968954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30940600-30969600	Weak transcription	Stomach Mucosa	stomach
2	chr2:30957000-30969800	Weak transcription	Fetal Intestine Large	intestine
3	chr2:30960400-30980000	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:30961600-30978400	Weak transcription	Pancreas	Pancrea
5	chr2:30962000-30970200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:30963600-30969600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:30964000-30970600	Strong transcription	Gastric	stomach
8	chr2:30964400-30969000	Strong transcription	Fetal Intestine Small	intestine
9	chr2:30964400-30978600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:30965400-30968800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr2:30965800-30999400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:30966000-30970000	Weak transcription	Colonic Mucosa	Colon
13	chr2:30966000-30970200	Weak transcription	Esophagus	oesophagus
14	chr2:30967200-30968600	Strong transcription	Fetal Stomach	stomach
15	chr2:30967400-30968600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr2:30967400-30968800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr2:30967400-30978800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:30968200-30985600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:30968600-30970400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:30968600-30975000	Weak transcription	Fetal Stomach	stomach
21	chr2:30968800-30969800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:30968800-30970000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:30968800-30970800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:30969000-30969800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:30969600-30970800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:30969600-30971000	Enhancers	Stomach Mucosa	stomach
27	chr2:30969800-30970200	Enhancers	Fetal Intestine Small	intestine
28	chr2:30969800-30970600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:30969800-30970800	Enhancers	Fetal Intestine Large	intestine
30	chr2:30970000-30970600	Enhancers	Colonic Mucosa	Colon
31	chr2:30970000-30970600	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:30970200-30970600	Enhancers	Lung	lung
33	chr2:30970200-30971000	Genic enhancers	Fetal Intestine Small	intestine
34	chr2:30970400-30971000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr2:30970600-30970800	Genic enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:30970600-30973600	Weak transcription	Gastric	stomach
37	chr2:30970600-30978800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:30970800-30974400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:30971000-30971600	Strong transcription	Fetal Intestine Small	intestine
40	chr2:30971000-30971800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:30971000-30984800	Weak transcription	Stomach Mucosa	stomach
42	chr2:30971600-30975600	Weak transcription	Fetal Intestine Small	intestine
43	chr2:30971800-30972600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:30972600-30976600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:30973600-30974200	Strong transcription	Gastric	stomach
46	chr2:30974200-30974800	Weak transcription	Gastric	stomach
47	chr2:30974400-30978800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:30974800-30977800	Strong transcription	Gastric	stomach
49	chr2:30975000-30975600	Strong transcription	Fetal Stomach	stomach
50	chr2:30975600-30976400	Strong transcription	Fetal Intestine Small	intestine

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