Variant report

Variant	nsv1004309
Chromosome Location	chr2:187389880-187455946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1529)
CpG islands
(count:671)
Chromatin interactive
region (count:103)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1529 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:187455669-187455948	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:187433395-187433608	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:187439988-187440337	K562	blood:	n/a	n/a
4	ARID3A	chr2:187409241-187409271	K562	blood:	n/a	n/a
5	ARID3A	chr2:187435446-187435766	K562	blood:	n/a	n/a
6	ARID3A	chr2:187435476-187435712	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:187455413-187456439	K562	blood:	n/a	n/a
8	ARID3A	chr2:187408669-187409574	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:187454204-187454949	K562	blood:	n/a	n/a
10	ARID3A	chr2:187395169-187395341	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:187440116-187440425	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:187398391-187399095	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:187453822-187455000	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:187455308-187455463	HepG2	liver:	n/a	n/a
15	ATF1	chr2:187455439-187456452	K562	blood:	n/a	n/a
16	ATF1	chr2:187397966-187398083	K562	blood:	n/a	n/a
17	ATF1	chr2:187448429-187448519	K562	blood:	n/a	n/a
18	ATF1	chr2:187419867-187420160	K562	blood:	n/a	n/a
19	ATF1	chr2:187440091-187440380	K562	blood:	n/a	n/a
20	ATF2	chr2:187455606-187456121	GM12878	blood:	n/a	n/a
21	ATF2	chr2:187455592-187456193	GM12878	blood:	n/a	n/a
22	ATF2	chr2:187454327-187455096	GM12878	blood:	n/a	n/a
23	ATF3	chr2:187408900-187409553	A549	lung:	n/a	n/a
24	ATF3	chr2:187440034-187440499	A549	lung:	n/a	n/a
25	ATF3	chr2:187440042-187440463	A549	lung:	n/a	n/a
26	ATF3	chr2:187406844-187407078	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr2:187437337-187437912	A549	lung:	n/a	n/a
28	ATF3	chr2:187437336-187437825	A549	lung:	n/a	n/a
29	ATF3	chr2:187435281-187435823	A549	lung:	n/a	n/a
30	ATF3	chr2:187408940-187409498	A549	lung:	n/a	n/a
31	ATF3	chr2:187454457-187455018	A549	lung:	n/a	chr2:187454494-187454503 chr2:187454488-187454497 chr2:187454853-187454862
32	ATF3	chr2:187439981-187440385	K562	blood:	n/a	n/a
33	ATF3	chr2:187455591-187456251	K562	blood:	n/a	chr2:187456091-187456104
34	BACH1	chr2:187440095-187440379	K562	blood:	n/a	chr2:187440259-187440273
35	BACH1	chr2:187454279-187455557	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr2:187408814-187409022	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr2:187440191-187440429	H1-hESC	embryonic stem cell:	n/a	chr2:187440259-187440273
38	BCL3	chr2:187435240-187435917	A549	lung:	n/a	n/a
39	BCL3	chr2:187437330-187438000	A549	lung:	n/a	n/a
40	BCL3	chr2:187454079-187454806	A549	lung:	n/a	chr2:187454493-187454502 chr2:187454488-187454501 chr2:187454494-187454507 chr2:187454741-187454750
41	BCL3	chr2:187437319-187437942	A549	lung:	n/a	n/a
42	BCL3	chr2:187454178-187454855	A549	lung:	n/a	chr2:187454493-187454502 chr2:187454488-187454501 chr2:187454494-187454507 chr2:187454810-187454819 chr2:187454741-187454750
43	BCL3	chr2:187439771-187440588	A549	lung:	n/a	n/a
44	BCL3	chr2:187408657-187409636	A549	lung:	n/a	chr2:187409272-187409281
45	BCLAF1	chr2:187454331-187455179	GM12878	blood:	n/a	chr2:187454493-187454502 chr2:187455010-187455019 chr2:187454488-187454501 chr2:187454494-187454507 chr2:187454810-187454819 chr2:187454741-187454750
46	BCLAF1	chr2:187454202-187455109	GM12878	blood:	n/a	chr2:187454493-187454502 chr2:187455010-187455019 chr2:187454488-187454501 chr2:187454494-187454507 chr2:187454810-187454819 chr2:187454741-187454750
47	BHLHE40	chr2:187453816-187456219	K562	blood:	n/a	chr2:187454843-187454859 chr2:187454565-187454581
48	BHLHE40	chr2:187455259-187455403	GM12878	blood:	n/a	n/a
49	BHLHE40	chr2:187454355-187454931	GM12878	blood:	n/a	chr2:187454843-187454859 chr2:187454565-187454581
50	BRCA1	chr2:187440976-187441206	Hela-S3	cervix:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:187454551-187454601	Caco-2	colon:	n/a
2	chr2:187454299-187454349	HRCEpiC	kidney:	n/a
3	chr2:187454414-187454464	MCF-7	breast:	n/a
4	chr2:187454299-187454349	HRE	kidney:	n/a
5	chr2:187454613-187454663	GM19239	blood:	n/a
6	chr2:187451704-187451754	Caco-2	colon:	n/a
7	chr2:187454414-187454464	LNCaP	prostate:	n/a
8	chr2:187454551-187454601	HRCEpiC	kidney:	n/a
9	chr2:187455298-187455348	AG04450	lung:	fetal
10	chr2:187455488-187455538	CMK	blood:	n/a
11	chr2:187455488-187455538	SKMC	muscle:	n/a
12	chr2:187454863-187454913	U87	brain:	n/a
13	chr2:187454299-187454349	HCT-116	colon:	n/a
14	chr2:187454613-187454663	Hepatocyte	liver:	n/a
15	chr2:187454613-187454663	AG10803	skin:	n/a
16	chr2:187454863-187454913	Hela-S3	cervix:	n/a
17	chr2:187455488-187455538	PANC-1	pancreas:	n/a
18	chr2:187454590-187454640	IMR90	lung:	fetal
19	chr2:187455298-187455348	HRPEpiC	eye:	n/a
20	chr2:187454414-187454464	GM19239	blood:	n/a
21	chr2:187455488-187455538	HCM	heart:	n/a
22	chr2:187451704-187451754	NHBE	bronchial:	n/a
23	chr2:187454863-187454913	Hepatocyte	liver:	n/a
24	chr2:187454747-187454797	GM12892	blood:	n/a
25	chr2:187455298-187455348	GM19239	blood:	n/a
26	chr2:187454590-187454640	SAEC	small airway:	n/a
27	chr2:187454613-187454663	BJ	skin:	n/a
28	chr2:187454414-187454464	AG10803	skin:	n/a
29	chr2:187454613-187454663	AG09309	skin:	n/a
30	chr2:187454590-187454640	NHBE	bronchial:	n/a
31	chr2:187454613-187454663	RPTEC	kidney:	n/a
32	chr2:187451704-187451754	HCPEpiC	choroid plexus:	n/a
33	chr2:187454551-187454601	HMEC	breast:	n/a
34	chr2:187454259-187454309	HMEC	breast:	n/a
35	chr2:187451704-187451754	HNPCEpiC	eye:	n/a
36	chr2:187454551-187454601	HNPCEpiC	eye:	n/a
37	chr2:187454551-187454601	GM12878	blood:	n/a
38	chr2:187454414-187454464	HRPEpiC	eye:	n/a
39	chr2:187454613-187454663	SK-N-SH	brain:	n/a
40	chr2:187455298-187455348	HUVEC	blood vessel:	n/a
41	chr2:187454863-187454913	HUVEC	blood vessel:	n/a
42	chr2:187454747-187454797	AG09309	skin:	n/a
43	chr2:187454551-187454601	GM12892	blood:	n/a
44	chr2:187454590-187454640	H1-hESC	embryonic stem cell:	embryo
45	chr2:187455298-187455348	AG09309	skin:	n/a
46	chr2:187454590-187454640	MCF-7	breast:	n/a
47	chr2:187454613-187454663	A549	lung:	n/a
48	chr2:187454590-187454640	RPTEC	kidney:	n/a
49	chr2:187454747-187454797	NH-A	brain:	n/a
50	chr2:187454414-187454464	HepG2	liver:	n/a

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:187402469..187405307-chr2:187454433..187456194,2	MCF-7	breast:
2	chr2:187390194..187392854-chr2:187410483..187412106,2	K562	blood:
3	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
4	chr2:187412946..187417035-chr2:187453622..187456860,4	MCF-7	breast:
5	chr11:75273135..75273713-chr2:187454417..187455033,2	Hela-S3	cervix:
6	chr2:187435611..187437376-chr2:187439116..187441984,2	MCF-7	breast:
7	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:
8	chr2:187398977..187400770-chr2:187403878..187405986,2	K562	blood:
9	chr2:187349509..187352093-chr2:187424097..187426856,2	MCF-7	breast:
10	chr2:187416465..187418037-chr2:187440678..187443102,2	MCF-7	breast:
11	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
12	chr2:187409753..187412549-chr2:187463065..187465596,2	MCF-7	breast:
13	chr2:187416465..187418037-chr2:187440678..187443102,2	MCF-7	breast:
14	chr2:187435550..187437375-chr2:187442844..187445371,2	K562	blood:
15	chr2:187370609..187373386-chr2:187454442..187456199,2	MCF-7	breast:
16	chr2:187410468..187412799-chr2:187439579..187442121,2	MCF-7	breast:
17	chr2:187411689..187413817-chr2:187434858..187437606,2	MCF-7	breast:
18	chr2:187392523..187394451-chr2:187396324..187399095,3	K562	blood:
19	chr2:187388812..187391488-chr2:187392591..187395983,4	K562	blood:
20	chr2:187433203..187436265-chr2:187453472..187457114,4	K562	blood:
21	chr2:187406917..187410917-chr2:187453199..187456715,8	MCF-7	breast:
22	chr2:187396369..187398023-chr2:187440810..187442748,2	MCF-7	breast:
23	chr2:187349398..187350973-chr2:187420308..187421923,2	K562	blood:
24	chr2:187433275..187435459-chr2:187454415..187456337,2	MCF-7	breast:
25	chr2:187442776..187446488-chr2:187447901..187451766,4	MCF-7	breast:
26	chr2:183901739..183903655-chr2:187454012..187455892,2	MCF-7	breast:
27	chr2:187418262..187420744-chr2:187454965..187457537,2	MCF-7	breast:
28	chr2:187386798..187388432-chr2:187393071..187395661,2	K562	blood:
29	chr2:187349672..187352615-chr2:187454696..187458504,4	K562	blood:
30	chr2:187437479..187442784-chr2:187443924..187447436,6	MCF-7	breast:
31	chr2:187368789..187369555-chr2:187454140..187454681,2	MCF-7	breast:
32	chr2:187350081..187352556-chr2:187433116..187434911,2	MCF-7	breast:
33	chr2:187384982..187387074-chr2:187390349..187392108,2	K562	blood:
34	chr2:187406244..187408980-chr2:187422400..187424184,2	MCF-7	breast:
35	chr2:187408692..187413087-chr2:187413826..187419706,7	MCF-7	breast:
36	chr2:187438412..187440075-chr2:187442178..187444992,2	K562	blood:
37	chr2:187411036..187412543-chr2:187454382..187455902,2	MCF-7	breast:
38	chr2:187392659..187395517-chr2:187406680..187408986,2	MCF-7	breast:
39	chr2:187350319..187353074-chr2:187452754..187457832,8	K562	blood:
40	chr2:187412931..187415408-chr2:187415614..187417884,2	K562	blood:
41	chr2:187408692..187413087-chr2:187413826..187419706,7	MCF-7	breast:
42	chr2:187397253..187399860-chr2:187417880..187419525,2	MCF-7	breast:
43	chr2:187414378..187416859-chr2:187424448..187427803,3	K562	blood:
44	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
45	chr2:187370870..187374778-chr2:187436583..187438876,3	MCF-7	breast:
46	chr2:187398977..187400770-chr2:187403878..187405986,2	K562	blood:
47	chr2:187437479..187442784-chr2:187443924..187447436,6	MCF-7	breast:
48	chr2:187418262..187420744-chr2:187454965..187457537,2	MCF-7	breast:
49	chr2:187370485..187373217-chr2:187453776..187456177,3	MCF-7	breast:
50	chr2:187397253..187399860-chr2:187417880..187419525,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3H15-2	chr2:187406763-187406872	NONHSAT075998

No data

Variant related genes	Relation type
ITGAV	TF binding region
ITGAV	CpG island
ENSG00000227227	chromatin interactions
ENSG00000213953	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000065548	chromatin interactions
ENSG00000138448	chromatin interactions
ENSG00000061676	chromatin interactions
ENSG00000144369	chromatin interactions

Extended variants
information (count: 2309 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:2309 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17333634	chr2:187389893-187389894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562199702	chr2:187389906-187389907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567282497	chr2:187389941-187389942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11678950	chr2:187389957-187389958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs145641594	chr2:187389969-187389970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569820747	chr2:187390004-187390005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138479602	chr2:187390026-187390027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546758458	chr2:187390081-187390082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552399584	chr2:187390099-187390100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570374023	chr2:187390129-187390130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534284157	chr2:187390138-187390139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369986869	chr2:187390156-187390157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552536036	chr2:187390182-187390183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114484205	chr2:187390188-187390189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146118244	chr2:187390233-187390234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557282133	chr2:187390244-187390245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559746916	chr2:187390266-187390267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185035435	chr2:187390307-187390308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189102671	chr2:187390366-187390367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370553001	chr2:187390411-187390412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546201899	chr2:187390430-187390431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558397390	chr2:187390438-187390439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557460071	chr2:187390454-187390455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7603088	chr2:187390478-187390479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs112831422	chr2:187390507-187390508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529446449	chr2:187390556-187390557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544673482	chr2:187390563-187390564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7576565	chr2:187390571-187390572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530701513	chr2:187390577-187390578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552203697	chr2:187390585-187390586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181002951	chr2:187390612-187390613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528348710	chr2:187390664-187390665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139520141	chr2:187390690-187390691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111281617	chr2:187390713-187390714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373585074	chr2:187390761-187390762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567678549	chr2:187390777-187390778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187067156	chr2:187390835-187390836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191092020	chr2:187390850-187390851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59301306	chr2:187390881-187390882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35150323	chr2:187390882-187390883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181466471	chr2:187390918-187390919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569075216	chr2:187390924-187390925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144151369	chr2:187391072-187391073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147364210	chr2:187391086-187391087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78702880	chr2:187391142-187391143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536573552	chr2:187391163-187391164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552453895	chr2:187391173-187391174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10192370	chr2:187391206-187391207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534386026	chr2:187391263-187391264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544399885	chr2:187391281-187391282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
3	chr2:187367200-187396800	Weak transcription	Gastric	stomach
4	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
6	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
8	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
9	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
14	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:187381800-187406600	Weak transcription	NHEK	skin
16	chr2:187383000-187397000	Weak transcription	K562	blood
17	chr2:187383400-187397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:187384200-187397800	Weak transcription	A549	lung
19	chr2:187386200-187392600	Weak transcription	Thymus	Thymus
20	chr2:187386200-187395800	Weak transcription	NH-A	brain
21	chr2:187386200-187397000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:187386200-187397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:187386200-187398400	Weak transcription	Liver	Liver
24	chr2:187386200-187405200	Weak transcription	HSMM	muscle
25	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:187386400-187390200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:187386800-187390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:187386800-187390600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:187386800-187392000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:187386800-187397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:187386800-187397400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:187386800-187397600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:187387000-187390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:187387000-187395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:187387200-187391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:187387200-187397400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:187387400-187397600	Weak transcription	Fetal Intestine Small	intestine
38	chr2:187388000-187399000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:187389400-187396200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:187391000-187391200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:187394600-187394800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:187394800-187395400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:187394800-187396400	Enhancers	HepG2	liver
44	chr2:187395400-187396200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:187395400-187399600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:187395600-187397600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:187395800-187396200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:187395800-187396200	Enhancers	HSMMtube	muscle
49	chr2:187395800-187396400	Enhancers	NH-A	brain
50	chr2:187395800-187396600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links