Variant report

Variant	nsv2716
Chromosome Location	chr2:47312166-47336600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:359)
CpG islands
(count:184)
Chromatin interactive
region (count:26)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:47316271-47316444	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:47316217-47316359	K562	blood:	n/a	n/a
3	ATF3	chr2:47335853-47336077	K562	blood:	n/a	n/a
4	BACH1	chr2:47316020-47316751	K562	blood:	n/a	n/a
5	BACH1	chr2:47316062-47316571	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr2:47325076-47325323	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:47313413-47313627	K562	blood:	n/a	chr2:47313556-47313565 chr2:47313557-47313566 chr2:47313551-47313572 chr2:47313557-47313566 chr2:47313558-47313567
8	BHLHE40	chr2:47313888-47314125	K562	blood:	n/a	n/a
9	BHLHE40	chr2:47315690-47316353	K562	blood:	n/a	n/a
10	CBX3	chr2:47335635-47336469	HCT-116	colon:	n/a	n/a
11	CBX3	chr2:47315677-47316473	K562	blood:	n/a	n/a
12	CCNT2	chr2:47315711-47316068	K562	blood:	n/a	n/a
13	CEBPB	chr2:47316287-47316296	K562	blood:	n/a	n/a
14	CHD2	chr2:47316207-47316276	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr2:47315580-47315730	HA-sp	spinal cord:	n/a	n/a
16	CTCF	chr2:47315620-47315770	HCT-116	colon:	n/a	n/a
17	CTCF	chr2:47315640-47315790	SAEC	small airway:	n/a	n/a
18	CTCF	chr2:47315580-47315730	HMEC	breast:	n/a	n/a
19	CTCF	chr2:47315562-47315769	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr2:47315580-47315730	HPF	lung:	n/a	n/a
21	CTCF	chr2:47315540-47315690	BJ	skin:	n/a	n/a
22	CTCF	chr2:47315640-47315790	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr2:47315580-47315730	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr2:47315598-47315744	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:47315540-47315690	AG09309	skin:	n/a	n/a
26	CTCF	chr2:47315598-47315734	GM12891	blood:	n/a	n/a
27	CTCF	chr2:47315584-47315740	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:47315600-47315750	HMF	breast:	n/a	n/a
29	CTCF	chr2:47315560-47315710	SAEC	small airway:	n/a	n/a
30	CTCF	chr2:47315560-47315710	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr2:47315580-47315730	Caco-2	colon:	n/a	n/a
32	CTCF	chr2:47315592-47315730	GM19238	blood:	n/a	n/a
33	CTCF	chr2:47315640-47315790	HCM	heart:	n/a	n/a
34	CTCF	chr2:47315540-47315690	GM12872	blood:	n/a	n/a
35	CTCF	chr2:47315600-47315750	GM12874	blood:	n/a	n/a
36	CTCF	chr2:47321660-47321810	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr2:47315580-47315730	AG04450	lung:	n/a	n/a
38	CTCF	chr2:47315600-47315750	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr2:47315545-47315809	K562	blood:	n/a	n/a
40	CTCF	chr2:47315620-47315770	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr2:47315581-47315751	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:47315581-47315748	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:47315562-47315812	IMR90	lung:	n/a	n/a
44	CTCF	chr2:47315580-47315730	HRE	kidney:	n/a	n/a
45	CTCF	chr2:47315600-47315750	K562	blood:	n/a	n/a
46	CTCF	chr2:47315620-47315770	GM12874	blood:	n/a	n/a
47	CTCF	chr2:47315600-47315750	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr2:47315623-47315676	GM19240	blood:	n/a	n/a
49	CTCF	chr2:47315540-47315690	HMF	breast:	n/a	n/a
50	CTCF	chr2:47315660-47315810	HMEC	breast:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47316605-47316655	HUVEC	blood vessel:	n/a
2	chr2:47316605-47316655	HUVEC	blood vessel:	n/a
3	chr2:47316605-47316655	HCT-116	colon:	n/a
4	chr2:47316605-47316655	Hepatocyte	liver:	n/a
5	chr2:47328169-47328219	HCT-116	colon:	n/a
6	chr2:47314956-47315006	BE2_C	brain:	n/a
7	chr2:47316605-47316655	SAEC	small airway:	n/a
8	chr2:47328169-47328219	SK-N-SH	brain:	n/a
9	chr2:47314956-47315006	HCPEpiC	choroid plexus:	n/a
10	chr2:47314956-47315006	Jurkat	blood:	n/a
11	chr2:47314956-47315006	HRE	kidney:	n/a
12	chr2:47328169-47328219	HepG2	liver:	n/a
13	chr2:47314956-47315006	ProgFib	skin:	n/a
14	chr2:47314956-47315006	T-47D	breast:	n/a
15	chr2:47328169-47328219	MCF-7	breast:	n/a
16	chr2:47328169-47328219	SK-N-MC	brain:	n/a
17	chr2:47328169-47328219	HNPCEpiC	eye:	n/a
18	chr2:47314956-47315006	GM12878	blood:	n/a
19	chr2:47328169-47328219	ECC-1	luminal epithelium:	n/a
20	chr2:47314956-47315006	HepG2	liver:	n/a
21	chr2:47314956-47315006	HIPEpiC	eye:	n/a
22	chr2:47328169-47328219	AG09319	gingival:	n/a
23	chr2:47314956-47315006	AG10803	skin:	n/a
24	chr2:47316605-47316655	SK-N-SH	brain:	n/a
25	chr2:47314956-47315006	GM19239	blood:	n/a
26	chr2:47316605-47316655	IMR90	lung:	fetal
27	chr2:47328169-47328219	U87	brain:	n/a
28	chr2:47314956-47315006	SKMC	muscle:	n/a
29	chr2:47316605-47316655	NT2-D1	testis:	n/a
30	chr2:47328169-47328219	GM12892	blood:	n/a
31	chr2:47314956-47315006	AG09319	gingival:	n/a
32	chr2:47314956-47315006	HAEpiC	amniotic membrane:	n/a
33	chr2:47316605-47316655	GM12878	blood:	n/a
34	chr2:47316605-47316655	HIPEpiC	eye:	n/a
35	chr2:47314956-47315006	LNCaP	prostate:	n/a
36	chr2:47328169-47328219	Hela-S3	cervix:	n/a
37	chr2:47316605-47316655	GM12892	blood:	n/a
38	chr2:47316605-47316655	LNCaP	prostate:	n/a
39	chr2:47316605-47316655	NH-A	brain:	n/a
40	chr2:47314956-47315006	GM12891	blood:	n/a
41	chr2:47316605-47316655	HL-60	blood:	n/a
42	chr2:47328169-47328219	HRE	kidney:	n/a
43	chr2:47328169-47328219	RPTEC	kidney:	n/a
44	chr2:47314956-47315006	AoSMC	blood vessel:	n/a
45	chr2:47328169-47328219	HRCEpiC	kidney:	n/a
46	chr2:47316605-47316655	PANC-1	pancreas:	n/a
47	chr2:47328169-47328219	GM19239	blood:	n/a
48	chr2:47314956-47315006	GM06990	blood:	n/a
49	chr2:47314956-47315006	HCF	heart:	n/a
50	chr2:47314956-47315006	PrEC	prostate:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47304999..47307834-chr2:47310076..47312199,2	MCF-7	breast:
2	chr2:47317156..47320596-chr2:47320667..47323814,3	K562	blood:
3	chr2:47304605..47306931-chr2:47316870..47318800,2	MCF-7	breast:
4	chr2:47292470..47294231-chr2:47312164..47314753,2	K562	blood:
5	chr2:47311106..47313250-chr2:47322578..47324877,2	K562	blood:
6	chr2:47305124..47307804-chr2:47314133..47316358,4	MCF-7	breast:
7	chr2:47312417..47315295-chr2:47318337..47320421,2	MCF-7	breast:
8	chr2:47308385..47311551-chr2:47313858..47316379,4	MCF-7	breast:
9	chr2:47311949..47314446-chr2:47401904..47404430,2	K562	blood:
10	chr2:47311106..47313250-chr2:47322578..47324877,2	K562	blood:
11	chr2:47313243..47315794-chr2:47321683..47323508,2	MCF-7	breast:
12	chr2:47312417..47315295-chr2:47318337..47320421,2	MCF-7	breast:
13	chr2:47320785..47322836-chr2:47324353..47326187,2	K562	blood:
14	chr2:47315686..47318027-chr2:47401019..47403152,4	K562	blood:
15	chr2:47334355..47336509-chr2:47402555..47405238,2	MCF-7	breast:
16	chr2:47314295..47316142-chr2:47551772..47554703,2	K562	blood:
17	chr2:47319263..47321781-chr2:47402053..47403582,2	MCF-7	breast:
18	chr2:47192215..47193859-chr2:47323314..47325455,2	MCF-7	breast:
19	chr2:47317156..47320596-chr2:47320667..47323814,3	K562	blood:
20	chr2:47317156..47320070-chr2:47320667..47323093,2	K562	blood:
21	chr2:47312009..47319415-chr2:47398595..47405362,13	K562	blood:
22	chr2:47313243..47315794-chr2:47321683..47323508,2	MCF-7	breast:
23	chr2:47320785..47322836-chr2:47324353..47326187,2	K562	blood:
24	chr2:47303169..47307562-chr2:47312603..47317235,6	MCF-7	breast:
25	chr2:47314226..47315795-chr2:47551231..47553272,2	K562	blood:
26	chr2:47317156..47320070-chr2:47320667..47323093,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC7A-2	chr2:47319376-47321740	l_1829_chr2:47307548-47321740_76bGuttman_hLF
2	lnc-TTC7A-2	chr2:47319376-47319850	NONHSAT070546
3	lnc-CALM2-3	chr2:47335527-47335927	NONHSAT070545
4	lnc-TTC7A-2	chr2:47319376-47319868	NONHSAT070547
5	lnc-CALM2-3	chr2:47335527-47335924	NONHSAT070542
6	lnc-CALM2-3	chr2:47335527-47335941	NONHSAT070540

No data

Variant related genes	Relation type
C2orf61	TF binding region
C2orf61	CpG island
ENSG00000143933	chromatin interactions

Extended variants
information (count: 1419 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1419 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12476194	chr2:47312167-47312168	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370098605	chr2:47312170-47312171	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201753266	chr2:47312171-47312172	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62138252	chr2:47312173-47312174	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12464431	chr2:47312174-47312175	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140126665	chr2:47312175-47312176	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs62138254	chr2:47312177-47312178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62138255	chr2:47312179-47312180	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs62138256	chr2:47312181-47312182	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76909558	chr2:47312183-47312184	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs199932195	chr2:47312187-47312188	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200882221	chr2:47312190-47312191	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576307918	chr2:47312194-47312195	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200375581	chr2:47312197-47312198	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73926707	chr2:47312209-47312210	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564946789	chr2:47312217-47312218	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532339694	chr2:47312240-47312241	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370593115	chr2:47312304-47312305	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559623376	chr2:47312340-47312341	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530201174	chr2:47312358-47312359	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4952867	chr2:47312389-47312390	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540150575	chr2:47312419-47312420	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551639927	chr2:47312422-47312423	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4953460	chr2:47312445-47312446	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537351526	chr2:47312463-47312464	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs80084293	chr2:47312493-47312494	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114474003	chr2:47312511-47312512	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538665298	chr2:47312528-47312529	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547525621	chr2:47312541-47312542	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553789077	chr2:47312619-47312620	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372042916	chr2:47312623-47312624	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573679494	chr2:47312647-47312648	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554473823	chr2:47312651-47312652	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145626822	chr2:47312687-47312688	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543329709	chr2:47312692-47312693	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537823702	chr2:47312701-47312702	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs193269193	chr2:47312711-47312712	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576705979	chr2:47312738-47312739	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4953461	chr2:47312778-47312779	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11675425	chr2:47312789-47312790	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185446297	chr2:47312808-47312809	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548623285	chr2:47312832-47312833	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142491162	chr2:47312833-47312834	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188676123	chr2:47312849-47312850	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545292982	chr2:47312857-47312858	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11691893	chr2:47312876-47312877	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370437332	chr2:47312896-47312897	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146657725	chr2:47312966-47312967	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191998394	chr2:47312981-47312982	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs151272523	chr2:47313013-47313014	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17603634	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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	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
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47307200-47312200	Weak transcription	K562	blood
2	chr2:47307200-47313000	Weak transcription	Esophagus	oesophagus
3	chr2:47307200-47315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:47307200-47323000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:47307400-47312200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:47307400-47312400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:47307400-47312400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:47307400-47312400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:47307400-47312400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:47307400-47316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:47307600-47312200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:47307600-47312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:47307600-47312400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:47307600-47312400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:47307600-47312400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:47307600-47312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:47307600-47312600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:47307600-47313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:47307600-47313200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:47307600-47313400	Weak transcription	HSMM	muscle
21	chr2:47307600-47313800	Weak transcription	Fetal Brain Male	brain
22	chr2:47307600-47315400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:47307600-47315600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:47307600-47316000	Weak transcription	NHDF-Ad	bronchial
25	chr2:47308200-47312400	Weak transcription	A549	lung
26	chr2:47308200-47312600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:47308200-47313000	Weak transcription	Brain Angular Gyrus	brain
28	chr2:47308400-47312200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:47308400-47313000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:47308400-47313400	Weak transcription	Fetal Intestine Large	intestine
31	chr2:47309800-47313400	Enhancers	Placenta	Placenta
32	chr2:47309800-47317800	Enhancers	Fetal Muscle Trunk	muscle
33	chr2:47310000-47313800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:47310000-47316600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:47310000-47318600	Enhancers	Fetal Muscle Leg	muscle
36	chr2:47310200-47312200	Enhancers	Adipose Nuclei	Adipose
37	chr2:47310200-47312200	Enhancers	Right Ventricle	heart
38	chr2:47310200-47317200	Enhancers	Left Ventricle	heart
39	chr2:47310400-47312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:47310400-47314000	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:47310400-47314600	Enhancers	Brain Substantia Nigra	brain
42	chr2:47310400-47315600	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:47310400-47318800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:47310600-47312400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr2:47310600-47312400	Weak transcription	Fetal Kidney	kidney
46	chr2:47310600-47313000	Weak transcription	HepG2	liver
47	chr2:47310600-47314800	Enhancers	Stomach Mucosa	stomach
48	chr2:47310600-47317400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:47310800-47312200	Weak transcription	Brain Anterior Caudate	brain
50	chr2:47310800-47313000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links