Variant report

Variant	nsv582516
Chromosome Location	chr2:99254031-99304794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:419)
CpG islands
(count:305)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:419 , 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	ARID3A	chr2:99265910-99266264	HepG2	liver:	n/a	n/a
2	ATF2	chr2:99254136-99254695	GM12878	blood:	n/a	n/a
3	BATF	chr2:99254267-99254563	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:99254323-99254556	GM12878	blood:	n/a	n/a
5	BCLAF1	chr2:99265792-99266311	GM12878	blood:	n/a	n/a
6	BCLAF1	chr2:99254231-99254595	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:99265923-99266205	HepG2	liver:	n/a	n/a
8	BHLHE40	chr2:99265693-99266242	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:99254021-99254531	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:99265959-99266194	K562	blood:	n/a	n/a
11	BRCA1	chr2:99265898-99266189	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:99280933-99281095	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:99280798-99281260	MCF-7	breast:	n/a	n/a
14	CEBPB	chr2:99294648-99295006	HepG2	liver:	n/a	chr2:99294825-99294836
15	CEBPB	chr2:99256553-99256879	HepG2	liver:	n/a	chr2:99256717-99256728
16	CEBPB	chr2:99269231-99269389	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr2:99256569-99256856	K562	blood:	n/a	chr2:99256717-99256728
18	CEBPB	chr2:99256581-99256837	IMR90	lung:	n/a	chr2:99256717-99256728
19	CEBPB	chr2:99266035-99266128	K562	blood:	n/a	n/a
20	CEBPB	chr2:99280851-99281124	K562	blood:	n/a	n/a
21	CEBPB	chr2:99280733-99281375	HCT-116	colon:	n/a	n/a
22	CEBPB	chr2:99280820-99281179	K562	blood:	n/a	n/a
23	CEBPB	chr2:99280867-99281207	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:99269270-99269325	A549	lung:	n/a	n/a
25	CEBPB	chr2:99269257-99269294	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:99263184-99263448	K562	blood:	n/a	chr2:99263299-99263310
27	CEBPB	chr2:99257410-99257449	HepG2	liver:	n/a	chr2:99257420-99257431
28	CEBPB	chr2:99256582-99256808	A549	lung:	n/a	chr2:99256717-99256728
29	CEBPB	chr2:99280928-99281160	A549	lung:	n/a	n/a
30	CEBPB	chr2:99280808-99281270	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr2:99280686-99281443	HCT-116	colon:	n/a	n/a
32	CEBPB	chr2:99294767-99294992	H1-hESC	embryonic stem cell:	n/a	chr2:99294825-99294836
33	CEBPB	chr2:99280843-99281220	K562	blood:	n/a	n/a
34	CEBPB	chr2:99280869-99281160	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:99294664-99295000	K562	blood:	n/a	chr2:99294825-99294836
36	CEBPB	chr2:99269090-99269428	MCF-7	breast:	n/a	n/a
37	CEBPB	chr2:99294727-99294987	A549	lung:	n/a	chr2:99294825-99294836
38	CEBPB	chr2:99280947-99281110	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:99263213-99263441	HepG2	liver:	n/a	chr2:99263299-99263310
40	CEBPB	chr2:99280704-99281426	MCF-7	breast:	n/a	n/a
41	CEBPB	chr2:99294658-99295004	IMR90	lung:	n/a	chr2:99294825-99294836
42	CHD2	chr2:99261087-99261245	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr2:99254258-99254633	GM12878	blood:	n/a	n/a
44	CTCF	chr2:99266000-99266150	NB4	blood:	n/a	n/a
45	CTCF	chr2:99266020-99266170	GM12865	blood:	n/a	n/a
46	CTCF	chr2:99266220-99266370	A549	lung:	n/a	n/a
47	CTCF	chr2:99265822-99266536	HCT-116	colon:	n/a	n/a
48	CTCF	chr2:99266000-99266150	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr2:99302360-99302510	HRE	kidney:	n/a	n/a
50	CTCF	chr2:99265874-99266231	HepG2	liver:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99262816-99262866	NHDF-neo	bronchial:	n/a
2	chr2:99280070-99280120	AG09319	gingival:	n/a
3	chr2:99280963-99281013	HCT-116	colon:	n/a
4	chr2:99262816-99262866	HRE	kidney:	n/a
5	chr2:99262816-99262866	AG04449	skin:	fetal
6	chr2:99280963-99281013	ECC-1	luminal epithelium:	n/a
7	chr2:99280070-99280120	HEEpiC	esophagus:	n/a
8	chr2:99280070-99280120	GM06990	blood:	n/a
9	chr2:99280930-99280980	AoSMC	blood vessel:	n/a
10	chr2:99280963-99281013	AG09319	gingival:	n/a
11	chr2:99280070-99280120	T-47D	breast:	n/a
12	chr2:99280930-99280980	GM12891	blood:	n/a
13	chr2:99262816-99262866	IMR90	lung:	fetal
14	chr2:99280963-99281013	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:99280963-99281013	HMEC	breast:	n/a
16	chr2:99280070-99280120	ECC-1	luminal epithelium:	n/a
17	chr2:99280930-99280980	HRCEpiC	kidney:	n/a
18	chr2:99280963-99281013	NHDF-neo	bronchial:	n/a
19	chr2:99280963-99281013	Hela-S3	cervix:	n/a
20	chr2:99260683-99260733	SK-N-MC	brain:	n/a
21	chr2:99280070-99280120	AG09309	skin:	n/a
22	chr2:99260683-99260733	AG04450	lung:	fetal
23	chr2:99262816-99262866	SK-N-SH_RA	brain:	n/a
24	chr2:99280930-99280980	MCF10A-Er-Src	breast:	n/a
25	chr2:99280930-99280980	Hepatocyte	liver:	n/a
26	chr2:99280070-99280120	HAEpiC	amniotic membrane:	n/a
27	chr2:99260683-99260733	HIPEpiC	eye:	n/a
28	chr2:99280930-99280980	SK-N-SH	brain:	n/a
29	chr2:99262816-99262866	NHBE	bronchial:	n/a
30	chr2:99280930-99280980	HCF	heart:	n/a
31	chr2:99280070-99280120	Hela-S3	cervix:	n/a
32	chr2:99262816-99262866	HRPEpiC	eye:	n/a
33	chr2:99262816-99262866	MCF10A-Er-Src	breast:	n/a
34	chr2:99280930-99280980	HRPEpiC	eye:	n/a
35	chr2:99280930-99280980	HepG2	liver:	n/a
36	chr2:99260683-99260733	HRPEpiC	eye:	n/a
37	chr2:99280070-99280120	HRPEpiC	eye:	n/a
38	chr2:99260683-99260733	IMR90	lung:	fetal
39	chr2:99280930-99280980	BJ	skin:	n/a
40	chr2:99262816-99262866	ECC-1	luminal epithelium:	n/a
41	chr2:99280930-99280980	HUVEC	blood vessel:	n/a
42	chr2:99280963-99281013	NH-A	brain:	n/a
43	chr2:99280930-99280980	A549	lung:	n/a
44	chr2:99260683-99260733	CMK	blood:	n/a
45	chr2:99262816-99262866	U87	brain:	n/a
46	chr2:99280070-99280120	AoSMC	blood vessel:	n/a
47	chr2:99262816-99262866	HCPEpiC	choroid plexus:	n/a
48	chr2:99280070-99280120	HUVEC	blood vessel:	n/a
49	chr2:99280070-99280120	Jurkat	blood:	n/a
50	chr2:99280070-99280120	NH-A	brain:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99254348..99256553-chr2:99259322..99261027,2	MCF-7	breast:
2	chr2:99265658..99266563-chr2:99453218..99454170,6	K562	blood:
3	chr2:99224398..99226029-chr2:99255376..99257588,2	K562	blood:
4	chr2:99295601..99297779-chr2:99317572..99320188,2	K562	blood:
5	chr15:37510985..37511783-chr2:99259575..99260376,2	K562	blood:
6	chr2:99296638..99298946-chr2:99305631..99307983,2	MCF-7	breast:
7	chr2:99260976..99264439-chr2:99264618..99267793,3	MCF-7	breast:
8	chr2:99293964..99295847-chr2:99346360..99348693,2	MCF-7	breast:
9	chr2:99256152..99259010-chr2:99259230..99262017,2	K562	blood:
10	chr2:99265598..99266647-chr2:99453141..99454628,13	MCF-7	breast:
11	chr2:99265613..99266542-chr2:99682479..99683707,4	MCF-7	breast:
12	chr2:99224920..99227035-chr2:99281074..99283307,2	K562	blood:
13	chr2:99266174..99266704-chr2:99452319..99452854,2	MCF-7	breast:
14	chr2:99257483..99259100-chr2:99264246..99265967,2	MCF-7	breast:
15	chr2:99257483..99259100-chr2:99264246..99265967,2	MCF-7	breast:
16	chr2:99260976..99264439-chr2:99264618..99267793,3	MCF-7	breast:
17	chr2:99254348..99256553-chr2:99259322..99261027,2	MCF-7	breast:
18	chr2:99302991..99304578-chr2:99308334..99311167,2	K562	blood:
19	chr2:99265627..99266606-chr2:99681933..99683499,6	MCF-7	breast:
20	chr2:99299792..99302673-chr2:99315201..99317831,2	MCF-7	breast:
21	chr2:99265511..99266529-chr2:99682139..99682979,3	K562	blood:
22	chr2:99265741..99266503-chr2:99453255..99454108,5	MCF-7	breast:
23	chr2:99256152..99259010-chr2:99259230..99262017,2	K562	blood:
24	chr2:99302882..99305773-chr2:99446334..99448179,2	MCF-7	breast:
25	chr2:99301026..99304352-chr2:99305405..99307955,3	K562	blood:
26	chr2:99223154..99226029-chr2:99254910..99257651,3	K562	blood:
27	chr2:99251429..99253111-chr2:99254758..99257281,2	K562	blood:

No data

Variant related genes	Relation type
MGAT4A	TF binding region
MGAT4A	CpG island
ENSG00000071073	chromatin interactions
ENSG00000183513	chromatin interactions
ENSG00000236564	chromatin interactions
ENSG00000115446	chromatin interactions

Extended variants
information (count: 1802 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1802 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13021375	chr2:99254031-99254032	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs145162208	chr2:99254036-99254037	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139039014	chr2:99254037-99254038	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568428116	chr2:99254063-99254064	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547072001	chr2:99254076-99254077	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192321445	chr2:99254203-99254204	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184379140	chr2:99254213-99254214	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571069596	chr2:99254288-99254289	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371514849	chr2:99254363-99254364	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142130155	chr2:99254365-99254366	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576582291	chr2:99254366-99254367	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144801766	chr2:99254375-99254376	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555827956	chr2:99254377-99254378	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555758978	chr2:99254379-99254380	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369175930	chr2:99254383-99254384	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17447754	chr2:99254415-99254416	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541810660	chr2:99254422-99254423	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190156751	chr2:99254437-99254438	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148565995	chr2:99254455-99254456	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577004463	chr2:99254471-99254472	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10205861	chr2:99254507-99254508	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10205878	chr2:99254563-99254564	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141185417	chr2:99254664-99254665	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181872418	chr2:99254685-99254686	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547788590	chr2:99254718-99254719	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561297391	chr2:99254729-99254730	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186483361	chr2:99254764-99254765	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548109124	chr2:99254834-99254835	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545763656	chr2:99254987-99254988	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs571039491	chr2:99255034-99255035	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533601642	chr2:99255043-99255044	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550077397	chr2:99255055-99255056	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150747823	chr2:99255113-99255114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs535904940	chr2:99255159-99255160	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189785320	chr2:99255186-99255187	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566120204	chr2:99255189-99255190	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534696342	chr2:99255215-99255216	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554064213	chr2:99255275-99255276	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs180931093	chr2:99255358-99255359	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs185201671	chr2:99255396-99255397	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs553549475	chr2:99255435-99255436	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373169286	chr2:99255447-99255448	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555897402	chr2:99255451-99255452	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143738333	chr2:99255486-99255487	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs544759110	chr2:99255548-99255549	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376453490	chr2:99255553-99255554	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562981777	chr2:99255576-99255577	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371350533	chr2:99255600-99255601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530172052	chr2:99255643-99255644	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs191047372	chr2:99255651-99255652	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99227200-99257400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:99231200-99286200	Weak transcription	Stomach Mucosa	stomach
3	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
4	chr2:99234800-99264600	Weak transcription	Ovary	ovary
5	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
6	chr2:99235400-99273600	Weak transcription	Fetal Kidney	kidney
7	chr2:99238600-99256000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:99243600-99265800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:99244200-99257000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:99244200-99265600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:99244800-99257000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:99244800-99265400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:99245000-99256800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr2:99245000-99268000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:99247200-99254600	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:99247200-99256400	Strong transcription	Lung	lung
17	chr2:99247200-99265600	Strong transcription	HepG2	liver
18	chr2:99247600-99254400	Strong transcription	Left Ventricle	heart
19	chr2:99248600-99255800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:99248800-99254600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:99248800-99254600	Strong transcription	Liver	Liver
22	chr2:99249800-99261600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:99249800-99265600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
25	chr2:99250000-99256200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:99251200-99260000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:99251200-99263600	Weak transcription	Placenta	Placenta
28	chr2:99251400-99269000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:99251400-99277800	Weak transcription	Spleen	Spleen
30	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
31	chr2:99251600-99254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:99251600-99255200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:99251600-99255400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:99251600-99260200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:99251600-99260200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:99251600-99260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:99251600-99260600	Weak transcription	Right Ventricle	heart
38	chr2:99251600-99264200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:99251600-99264200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:99251600-99275400	Weak transcription	Gastric	stomach
41	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:99251800-99275600	Weak transcription	Aorta	Aorta
44	chr2:99252200-99271200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:99252600-99254600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr2:99252600-99256400	Strong transcription	HUVEC	blood vessel
47	chr2:99252600-99257600	Strong transcription	Adipose Nuclei	Adipose
48	chr2:99252800-99254200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr2:99252800-99255600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr2:99253000-99254800	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links