Variant report

Variant	nsv520269
Chromosome Location	chr2:30958137-30988375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:183)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 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	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	chr2:30987439-30987651	K562	blood:	n/a	chr2:30987547-30987556 chr2:30987546-30987555 chr2:30987540-30987561 chr2:30987545-30987554 chr2:30987544-30987557 chr2:30987546-30987555
5	BHLHE40	chr2:30979132-30979226	K562	blood:	n/a	n/a
6	CBX3	chr2:30978961-30979339	K562	blood:	n/a	n/a
7	CCNT2	chr2:30978893-30979241	K562	blood:	n/a	n/a
8	CEBPB	chr2:30958272-30958282	HepG2	liver:	n/a	n/a
9	CTCF	chr2:30970129-30970346	MCF-7	breast:	n/a	chr2:30970219-30970228
10	CTCF	chr2:30981280-30981430	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr2:30970160-30970310	GM12873	blood:	n/a	chr2:30970219-30970228
12	CTCF	chr2:30968521-30968562	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:30970140-30970290	MCF-7	breast:	n/a	chr2:30970219-30970228
14	CTCF	chr2:30970107-30970344	MCF-7	breast:	n/a	chr2:30970219-30970228
15	CTCF	chr2:30970117-30970329	MCF-7	breast:	n/a	chr2:30970219-30970228
16	CTCF	chr2:30968519-30968554	K562	blood:	n/a	n/a
17	CTCF	chr2:30968516-30968520	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:30983780-30983930	GM12865	blood:	n/a	n/a
19	CTCF	chr2:30968500-30968650	Caco-2	colon:	n/a	n/a
20	CTCF	chr2:30970141-30970319	MCF-7	breast:	n/a	chr2:30970219-30970228
21	CTCF	chr2:30970231-30970245	Lung_OC	lung:	n/a	n/a
22	CTCF	chr2:30970180-30970330	HCT-116	colon:	n/a	chr2:30970219-30970228
23	CTCF	chr2:30970200-30970350	HepG2	liver:	n/a	chr2:30970219-30970228
24	CTCF	chr2:30983740-30984010	GM12872	blood:	n/a	n/a
25	CTCF	chr2:30983740-30983990	GM12867	blood:	n/a	n/a
26	CTCF	chr2:30983780-30983930	GM12864	blood:	n/a	n/a
27	CTCF	chr2:30984100-30984250	GM12873	blood:	n/a	n/a
28	CTCF	chr2:30970140-30970290	Caco-2	colon:	n/a	chr2:30970219-30970228
29	CTCF	chr2:30970260-30970410	A549	lung:	n/a	n/a
30	CTCF	chr2:30981220-30981370	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr2:30970100-30970250	HepG2	liver:	n/a	chr2:30970219-30970228
32	CTCF	chr2:30970128-30970308	MCF-7	breast:	n/a	chr2:30970219-30970228
33	CTCF	chr2:30972863-30972967	Lung_OC	lung:	n/a	n/a
34	CTCF	chr2:30970118-30970329	Pancreas_OC	pancreas:	n/a	chr2:30970219-30970228
35	CTCF	chr2:30982600-30982750	HEK293	kidney:	n/a	chr2:30982700-30982710
36	CTCF	chr2:30970257-30970291	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr2:30968516-30968569	LNCaP	prostate:	n/a	n/a
38	CTCF	chr2:30983940-30984090	HepG2	liver:	n/a	n/a
39	CTCF	chr2:30970120-30970270	SAEC	small airway:	n/a	chr2:30970219-30970228
40	CTCF	chr2:30970035-30970431	MCF-7	breast:	n/a	chr2:30970219-30970228
41	CUX1	chr2:30979082-30979355	K562	blood:	n/a	n/a
42	ELF1	chr2:30978864-30979268	K562	blood:	n/a	chr2:30979061-30979074 chr2:30979062-30979073 chr2:30979063-30979072
43	ELF1	chr2:30978744-30979569	MCF-7	breast:	n/a	chr2:30979061-30979074 chr2:30979062-30979073 chr2:30979063-30979072
44	ELF1	chr2:30984859-30985075	K562	blood:	n/a	chr2:30984947-30984960
45	ELF1	chr2:30978718-30979501	MCF-7	breast:	n/a	chr2:30979061-30979074 chr2:30979062-30979073 chr2:30979063-30979072
46	EP300	chr2:30978784-30979110	T-47D	breast:	n/a	chr2:30979063-30979070
47	EP300	chr2:30978759-30979291	MCF-7	breast:	n/a	chr2:30979219-30979228 chr2:30979063-30979070
48	EP300	chr2:30980982-30981575	SK-N-SH_RA	brain:	n/a	chr2:30981141-30981155 chr2:30981012-30981026 chr2:30981547-30981563
49	EP300	chr2:30981051-30981505	SK-N-SH_RA	brain:	n/a	chr2:30981141-30981155
50	EP300	chr2:30961385-30961720	SK-N-SH_RA	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:30967753-30967803	BE2_C	brain:	n/a
2	chr2:30966534-30966584	HCT-116	colon:	n/a
3	chr2:30966534-30966584	NH-A	brain:	n/a
4	chr2:30967383-30967433	ProgFib	skin:	n/a
5	chr2:30966534-30966584	PrEC	prostate:	n/a
6	chr2:30967383-30967433	AG04450	lung:	fetal
7	chr2:30967753-30967803	GM19239	blood:	n/a
8	chr2:30967753-30967803	HCT-116	colon:	n/a
9	chr2:30966534-30966584	ProgFib	skin:	n/a
10	chr2:30966534-30966584	H1-hESC	embryonic stem cell:	embryo
11	chr2:30966534-30966584	A549	lung:	n/a
12	chr2:30967383-30967433	U87	brain:	n/a
13	chr2:30967383-30967433	K562	blood:	n/a
14	chr2:30967753-30967803	GM12891	blood:	n/a
15	chr2:30966534-30966584	BE2_C	brain:	n/a
16	chr2:30967753-30967803	SKMC	muscle:	n/a
17	chr2:30967383-30967433	GM12892	blood:	n/a
18	chr2:30966534-30966584	HRE	kidney:	n/a
19	chr2:30967753-30967803	HepG2	liver:	n/a
20	chr2:30967753-30967803	NHBE	bronchial:	n/a
21	chr2:30966534-30966584	LNCaP	prostate:	n/a
22	chr2:30967383-30967433	H1-hESC	embryonic stem cell:	embryo
23	chr2:30967753-30967803	AG10803	skin:	n/a
24	chr2:30967383-30967433	IMR90	lung:	fetal
25	chr2:30967383-30967433	HCPEpiC	choroid plexus:	n/a
26	chr2:30967753-30967803	IMR90	lung:	fetal
27	chr2:30967383-30967433	A549	lung:	n/a
28	chr2:30967753-30967803	Jurkat	blood:	n/a
29	chr2:30966534-30966584	SAEC	small airway:	n/a
30	chr2:30967383-30967433	NT2-D1	testis:	n/a
31	chr2:30967753-30967803	GM12892	blood:	n/a
32	chr2:30966534-30966584	NHBE	bronchial:	n/a
33	chr2:30967753-30967803	GM12878	blood:	n/a
34	chr2:30966534-30966584	HCF	heart:	n/a
35	chr2:30967753-30967803	HMEC	breast:	n/a
36	chr2:30966534-30966584	GM12878	blood:	n/a
37	chr2:30966534-30966584	HIPEpiC	eye:	n/a
38	chr2:30967753-30967803	SK-N-SH_RA	brain:	n/a
39	chr2:30966534-30966584	GM19239	blood:	n/a
40	chr2:30967383-30967433	HEEpiC	esophagus:	n/a
41	chr2:30967383-30967433	GM12878	blood:	n/a
42	chr2:30967753-30967803	HCPEpiC	choroid plexus:	n/a
43	chr2:30967753-30967803	ProgFib	skin:	n/a
44	chr2:30967383-30967433	HL-60	blood:	n/a
45	chr2:30967753-30967803	HEK293	kidney:	embryo
46	chr2:30967383-30967433	AoSMC	blood vessel:	n/a
47	chr2:30967383-30967433	Hela-S3	cervix:	n/a
48	chr2:30966534-30966584	K562	blood:	n/a
49	chr2:30966534-30966584	GM12892	blood:	n/a
50	chr2:30967383-30967433	RPTEC	kidney:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30961063..30963636-chr2:30966785..30969337,2	K562	blood:
2	chr2:30980803..30983163-chr2:30994133..30996203,2	MCF-7	breast:
3	chr2:30974420..30976391-chr2:30977915..30980887,2	K562	blood:
4	chr2:30977154..30980117-chr2:31067172..31070017,2	MCF-7	breast:
5	chr2:30980741..30983020-chr2:30986437..30988713,2	K562	blood:
6	chr2:30962359..30964293-chr2:30967251..30969409,2	MCF-7	breast:
7	chr2:30958598..30960797-chr2:30966634..30970280,3	MCF-7	breast:
8	chr2:30971328..30973922-chr2:30977969..30979743,3	MCF-7	breast:
9	chr2:30978342..30980549-chr2:31003793..31005445,2	MCF-7	breast:
10	chr2:30962359..30964293-chr2:30967251..30969409,2	MCF-7	breast:
11	chr2:30974420..30976391-chr2:30977915..30980887,2	K562	blood:
12	chr2:30974357..30976391-chr2:30976860..30980887,3	K562	blood:
13	chr2:30969086..30972253-chr2:30973250..30976554,4	K562	blood:
14	chr2:30960123..30961643-chr2:30966181..30968603,2	MCF-7	breast:
15	chr2:30983764..30986545-chr2:30993398..30995373,2	K562	blood:
16	chr2:30969086..30972253-chr2:30973250..30976554,4	K562	blood:
17	chr2:30961063..30962605-chr2:30966715..30968285,2	K562	blood:
18	chr2:30952814..30954771-chr2:30956353..30958327,2	MCF-7	breast:
19	chr2:30971328..30973922-chr2:30977969..30979743,3	MCF-7	breast:
20	chr2:30967775..30969478-chr2:30977702..30980114,2	MCF-7	breast:
21	chr2:30961063..30962605-chr2:30966715..30968285,2	K562	blood:
22	chr2:30967775..30969478-chr2:30977702..30980114,2	MCF-7	breast:
23	chr2:30974995..30977156-chr2:31012471..31013998,2	MCF-7	breast:
24	chr2:30978882..30982474-chr2:30994656..30997998,4	MCF-7	breast:
25	chr2:30974357..30976391-chr2:30976860..30980887,3	K562	blood:
26	chr2:30980741..30983020-chr2:30986437..30988713,2	K562	blood:
27	chr2:30974857..30977136-chr2:31030936..31033444,2	MCF-7	breast:
28	chr2:30970154..30970707-chr2:31084669..31085548,2	MCF-7	breast:
29	chr2:30977562..30982184-chr2:31026694..31034377,7	MCF-7	breast:
30	chr2:30961063..30963636-chr2:30966785..30969337,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 1512 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1512 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs477229	chr2:30958137-30958138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548385072	chr2:30958244-30958245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563256817	chr2:30958254-30958255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576728758	chr2:30958270-30958271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545804333	chr2:30958310-30958311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559338288	chr2:30958318-30958319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528396370	chr2:30958358-30958359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547978932	chr2:30958369-30958370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17010108	chr2:30958390-30958391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs190182085	chr2:30958448-30958449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386644440	chr2:30958466-30958467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2013768	chr2:30958468-30958469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150432512	chr2:30958476-30958477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72867117	chr2:30958485-30958486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567046715	chr2:30958498-30958499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72867118	chr2:30958499-30958500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs80329009	chr2:30958515-30958516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555973378	chr2:30958552-30958553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146597505	chr2:30958553-30958554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141362483	chr2:30958555-30958556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557064859	chr2:30958651-30958652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576874449	chr2:30958698-30958699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181690042	chr2:30958700-30958701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559347580	chr2:30958759-30958760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71405535	chr2:30958761-30958762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573032786	chr2:30958765-30958766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145125050	chr2:30958768-30958769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139007864	chr2:30958826-30958827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374140351	chr2:30958913-30958914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561664288	chr2:30958938-30958939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111556143	chr2:30958979-30958980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530592737	chr2:30958995-30958996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs569901360	chr2:30959010-30959011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544006709	chr2:30959038-30959039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564387044	chr2:30959045-30959046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533511636	chr2:30959049-30959050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116204378	chr2:30959094-30959095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368746730	chr2:30959095-30959096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2593437	chr2:30959100-30959101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566884304	chr2:30959109-30959110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs3738936	chr2:30959146-30959147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549662176	chr2:30959156-30959157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569591806	chr2:30959180-30959181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538393785	chr2:30959198-30959199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558339935	chr2:30959201-30959202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147982270	chr2:30959232-30959233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141664185	chr2:30959256-30959257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs509380	chr2:30959262-30959263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191106321	chr2:30959298-30959299	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34300954	chr2:30959318-30959319	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30940600-30969600	Weak transcription	Stomach Mucosa	stomach
2	chr2:30953600-30965200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:30954000-30965400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:30955400-30959400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:30956000-30964000	Weak transcription	Gastric	stomach
6	chr2:30957000-30969800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:30957200-30964400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:30959000-30960000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:30959200-30959800	Enhancers	HMEC	breast
10	chr2:30959400-30959800	Enhancers	NHEK	skin
11	chr2:30959400-30960000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:30959400-30960200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:30959400-30960400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:30959400-30960600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:30959400-30962000	Weak transcription	Right Atrium	heart
16	chr2:30959600-30959800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:30960000-30963800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:30960200-30960400	Enhancers	Brain Hippocampus Middle	brain
19	chr2:30960400-30980000	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:30961000-30965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:30961400-30961600	Enhancers	Pancreas	Pancrea
22	chr2:30961400-30964800	Weak transcription	Fetal Stomach	stomach
23	chr2:30961600-30978400	Weak transcription	Pancreas	Pancrea
24	chr2:30962000-30970200	Weak transcription	Brain Substantia Nigra	brain
25	chr2:30962600-30967600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:30963600-30969600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:30963800-30964800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:30964000-30964400	Enhancers	Adipose Nuclei	Adipose
29	chr2:30964000-30970600	Strong transcription	Gastric	stomach
30	chr2:30964400-30965400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:30964400-30969000	Strong transcription	Fetal Intestine Small	intestine
32	chr2:30964400-30978600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:30964800-30965200	Strong transcription	Fetal Stomach	stomach
34	chr2:30965200-30965600	ZNF genes & repeats	Fetal Stomach	stomach
35	chr2:30965200-30966000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr2:30965400-30965800	Strong transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:30965400-30966000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:30965400-30968800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:30965600-30965800	Enhancers	Spleen	Spleen
40	chr2:30965600-30967200	Weak transcription	Fetal Stomach	stomach
41	chr2:30965800-30966000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:30965800-30999400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:30966000-30967400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:30966000-30967400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:30966000-30967600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:30966000-30970000	Weak transcription	Colonic Mucosa	Colon
47	chr2:30966000-30970200	Weak transcription	Esophagus	oesophagus
48	chr2:30967200-30968600	Strong transcription	Fetal Stomach	stomach
49	chr2:30967400-30968600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:30967400-30968800	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links