Variant report

Variant	nsv535686
Chromosome Location	chr2:49422587-49737964
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	chr2:49534143-49534490	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:49467819-49468047	HepG2	liver:	n/a	n/a
3	BACH1	chr2:49478947-49479134	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr2:49456700-49457056	GM12878	blood:	n/a	n/a
5	BATF	chr2:49456588-49457058	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:49456707-49457049	GM12878	blood:	n/a	n/a
7	BCL11A	chr2:49456598-49457072	GM12878	blood:	n/a	n/a
8	BCL3	chr2:49563932-49564143	GM12878	blood:	n/a	n/a
9	BCL3	chr2:49475653-49475916	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:49456686-49457070	HepG2	liver:	n/a	n/a
11	BHLHE40	chr2:49437340-49437444	HepG2	liver:	n/a	n/a
12	BRCA1	chr2:49717880-49718243	H1-hESC	embryonic stem cell:	n/a	n/a
13	CCNT2	chr2:49593585-49593785	K562	blood:	n/a	n/a
14	CEBPB	chr2:49426971-49427266	A549	lung:	n/a	chr2:49427145-49427158 chr2:49427145-49427156 chr2:49427146-49427157
15	CEBPB	chr2:49468771-49469019	A549	lung:	n/a	chr2:49468909-49468922 chr2:49468909-49468920
16	CEBPB	chr2:49724259-49724492	A549	lung:	n/a	chr2:49724431-49724442
17	CEBPB	chr2:49685761-49686099	IMR90	lung:	n/a	chr2:49685946-49685957
18	CEBPB	chr2:49475649-49476007	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr2:49685789-49686083	H1-hESC	embryonic stem cell:	n/a	chr2:49685946-49685957
20	CEBPB	chr2:49595257-49595458	HepG2	liver:	n/a	chr2:49595387-49595398 chr2:49595386-49595399 chr2:49595388-49595397
21	CEBPB	chr2:49665629-49665822	HepG2	liver:	n/a	chr2:49665678-49665689 chr2:49665678-49665691
22	CEBPB	chr2:49475654-49475976	A549	lung:	n/a	n/a
23	CEBPB	chr2:49525401-49525708	H1-hESC	embryonic stem cell:	n/a	chr2:49525564-49525577 chr2:49525564-49525575
24	CEBPB	chr2:49685776-49686040	A549	lung:	n/a	chr2:49685946-49685957
25	CEBPB	chr2:49724250-49724598	HepG2	liver:	n/a	chr2:49724431-49724442
26	CEBPB	chr2:49525390-49525744	HepG2	liver:	n/a	chr2:49525564-49525577 chr2:49525564-49525575
27	CEBPB	chr2:49518899-49519016	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr2:49475637-49475993	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:49613768-49614087	HepG2	liver:	n/a	chr2:49613891-49613902
30	CEBPB	chr2:49734757-49734868	HepG2	liver:	n/a	chr2:49734798-49734809
31	CEBPB	chr2:49475560-49476060	A549	lung:	n/a	n/a
32	CEBPB	chr2:49525392-49525738	IMR90	lung:	n/a	chr2:49525564-49525577 chr2:49525564-49525575
33	CEBPB	chr2:49475606-49475954	A549	lung:	n/a	n/a
34	CEBPB	chr2:49685796-49686120	HepG2	liver:	n/a	chr2:49685946-49685957
35	CEBPB	chr2:49612663-49612885	HepG2	liver:	n/a	chr2:49612771-49612782
36	CEBPB	chr2:49644771-49645129	HepG2	liver:	n/a	chr2:49644944-49644955
37	CEBPB	chr2:49475457-49476102	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:49468706-49469063	IMR90	lung:	n/a	chr2:49468909-49468922 chr2:49468909-49468920
39	CEBPB	chr2:49728866-49729125	HepG2	liver:	n/a	chr2:49729020-49729031
40	CEBPB	chr2:49478933-49479311	IMR90	lung:	n/a	n/a
41	CEBPB	chr2:49426968-49427294	HepG2	liver:	n/a	chr2:49427145-49427158 chr2:49427145-49427156 chr2:49427146-49427157
42	CEBPB	chr2:49685814-49686076	K562	blood:	n/a	chr2:49685946-49685957
43	CEBPB	chr2:49468748-49469036	HepG2	liver:	n/a	chr2:49468909-49468922 chr2:49468909-49468920
44	CEBPB	chr2:49525385-49525746	A549	lung:	n/a	chr2:49525564-49525577 chr2:49525564-49525575
45	CEBPB	chr2:49555079-49555279	HepG2	liver:	n/a	chr2:49555160-49555171 chr2:49555118-49555129
46	CEBPB	chr2:49728946-49729106	A549	lung:	n/a	chr2:49729020-49729031
47	CEBPB	chr2:49665628-49665818	A549	lung:	n/a	chr2:49665678-49665689 chr2:49665678-49665691
48	CEBPB	chr2:49561598-49561847	HepG2	liver:	n/a	chr2:49561713-49561724
49	CEBPB	chr2:49525379-49525738	Hela-S3	cervix:	n/a	chr2:49525564-49525577 chr2:49525564-49525575
50	CEBPB	chr2:49525419-49525681	K562	blood:	n/a	chr2:49525564-49525577 chr2:49525564-49525575

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:49566210-49566260	MCF10A-Er-Src	breast:	n/a
2	chr2:49566210-49566260	MCF10A-Er-Src	breast:	n/a
3	chr2:49604189-49604239	HMEC	breast:	n/a
4	chr2:49631579-49631629	ProgFib	skin:	n/a
5	chr2:49566210-49566260	BE2_C	brain:	n/a
6	chr2:49604189-49604239	Caco-2	colon:	n/a
7	chr2:49604189-49604239	ovcar-3	ovarian:	n/a
8	chr2:49566210-49566260	LNCaP	prostate:	n/a
9	chr2:49566210-49566260	AG09319	gingival:	n/a
10	chr2:49604189-49604239	HRPEpiC	eye:	n/a
11	chr2:49566210-49566260	GM12878	blood:	n/a
12	chr2:49631579-49631629	SKMC	muscle:	n/a
13	chr2:49631579-49631629	ovcar-3	ovarian:	n/a
14	chr2:49631579-49631629	K562	blood:	n/a
15	chr2:49631579-49631629	HUVEC	blood vessel:	n/a
16	chr2:49604189-49604239	HCF	heart:	n/a
17	chr2:49604189-49604239	K562	blood:	n/a
18	chr2:49631579-49631629	HL-60	blood:	n/a
19	chr2:49604189-49604239	Hepatocyte	liver:	n/a
20	chr2:49631579-49631629	AG04449	skin:	fetal
21	chr2:49631579-49631629	GM12878	blood:	n/a
22	chr2:49566210-49566260	AG04450	lung:	fetal
23	chr2:49566210-49566260	ECC-1	luminal epithelium:	n/a
24	chr2:49631579-49631629	AG04450	lung:	fetal
25	chr2:49604189-49604239	NT2-D1	testis:	n/a
26	chr2:49604189-49604239	HCPEpiC	choroid plexus:	n/a
27	chr2:49566210-49566260	NB4	blood:	n/a
28	chr2:49566210-49566260	SKMC	muscle:	n/a
29	chr2:49631579-49631629	GM12892	blood:	n/a
30	chr2:49566210-49566260	PrEC	prostate:	n/a
31	chr2:49604189-49604239	AG04450	lung:	fetal
32	chr2:49631579-49631629	AG09319	gingival:	n/a
33	chr2:49566210-49566260	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:49631579-49631629	BE2_C	brain:	n/a
35	chr2:49631579-49631629	SAEC	small airway:	n/a
36	chr2:49566210-49566260	NHBE	bronchial:	n/a
37	chr2:49604189-49604239	HL-60	blood:	n/a
38	chr2:49631579-49631629	A549	lung:	n/a
39	chr2:49566210-49566260	HRE	kidney:	n/a
40	chr2:49566210-49566260	H1-hESC	embryonic stem cell:	embryo
41	chr2:49631579-49631629	Jurkat	blood:	n/a
42	chr2:49566210-49566260	GM12892	blood:	n/a
43	chr2:49566210-49566260	T-47D	breast:	n/a
44	chr2:49631579-49631629	Caco-2	colon:	n/a
45	chr2:49566210-49566260	HMEC	breast:	n/a
46	chr2:49566210-49566260	GM12891	blood:	n/a
47	chr2:49631579-49631629	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:49631579-49631629	GM12891	blood:	n/a
49	chr2:49566210-49566260	HRCEpiC	kidney:	n/a
50	chr2:49566210-49566260	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:49271536..49272486-chr2:49717616..49718379,2	MCF-7	breast:
2	chr2:49717623..49718402-chr4:155728129..155728848,2	MCF-7	breast:
3	chr2:49425509..49426338-chr3:115937869..115938784,2	MCF-7	breast:
4	chr2:49476946..49478961-chr2:49480994..49483698,2	K562	blood:
5	chr2:49464339..49466660-chr2:49467162..49469670,2	MCF-7	breast:
6	chr2:49467020..49468811-chr2:49494310..49496052,2	MCF-7	breast:
7	chr2:49586512..49588631-chr2:49595229..49597558,2	K562	blood:
8	chr2:48827218..48827809-chr2:49717926..49718495,2	MCF-7	breast:
9	chr2:49482602..49483344-chr2:49717972..49718732,2	MCF-7	breast:
10	chr2:49586512..49588631-chr2:49595229..49597558,2	K562	blood:
11	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
12	chr2:49482564..49483069-chr2:50629187..50629937,2	MCF-7	breast:
13	chr2:49467020..49468811-chr2:49494310..49496052,2	MCF-7	breast:
14	chr2:49482602..49483344-chr2:49717972..49718732,2	MCF-7	breast:
15	chr2:49482441..49483071-chr2:49559200..49560186,2	MCF-7	breast:
16	chr2:49720297..49721154-chr7:156196377..156197235,2	MCF-7	breast:
17	chr2:49476946..49478961-chr2:49480994..49483698,2	K562	blood:
18	chr2:49482441..49483071-chr2:49559200..49560186,2	MCF-7	breast:
19	chr2:49464339..49466660-chr2:49467162..49469670,2	MCF-7	breast:
20	chr2:49728038..49730710-chr2:49734432..49737035,2	MCF-7	breast:
21	chr2:49173283..49174235-chr2:49717706..49718797,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON1-GTF2A1L-3	chr2:49436966-49437234	NONHSAT070638
2	lnc-STON1-GTF2A1L-3	chr2:49437434-49437440	NONHSAT070638
3	lnc-STON1-GTF2A1L-3	chr2:49452602-49452611	NONHSAT070638
4	lnc-STON1-GTF2A1L-3	chr2:49456719-49457043	NONHSAT070638

Variant related genes	Relation type
RNU6-439P	TF binding region
RNU6-439P	CpG island

Extended variants
information (count: 6003 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:6003 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368644473	chr2:49422678-49422679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147035780	chr2:49422710-49422711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113823141	chr2:49422719-49422720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187199340	chr2:49422741-49422742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547741851	chr2:49422763-49422764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138175245	chr2:49422809-49422810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149158812	chr2:49422814-49422815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12473646	chr2:49422815-49422816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs4971701	chr2:49422824-49422825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141499661	chr2:49422828-49422829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558604774	chr2:49422861-49422862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576461108	chr2:49422882-49422883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189355302	chr2:49422883-49422884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540649836	chr2:49422885-49422886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62164276	chr2:49422897-49422898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4971702	chr2:49422917-49422918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138475699	chr2:49422934-49422935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143101892	chr2:49422935-49422936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117248345	chr2:49422940-49422941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146178618	chr2:49422943-49422944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546012989	chr2:49423002-49423003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564582814	chr2:49423007-49423008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528567736	chr2:49423081-49423082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547030727	chr2:49423098-49423099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4971703	chr2:49423106-49423107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs180803146	chr2:49423108-49423109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548455468	chr2:49423139-49423140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67573925	chr2:49423191-49423192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537231227	chr2:49423200-49423201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35822431	chr2:49423222-49423223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370852708	chr2:49423266-49423267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185248827	chr2:49423273-49423274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139055833	chr2:49423291-49423292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190011928	chr2:49423293-49423294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35213119	chr2:49423348-49423349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182642769	chr2:49423379-49423380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78377017	chr2:49423400-49423401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78813324	chr2:49423403-49423404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535810147	chr2:49423407-49423408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547360199	chr2:49423413-49423414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557613623	chr2:49423425-49423426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143931360	chr2:49423442-49423443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546398160	chr2:49423447-49423448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564634663	chr2:49423510-49423511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573382853	chr2:49423514-49423515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186444573	chr2:49423558-49423559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562105778	chr2:49423661-49423662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191734087	chr2:49423765-49423766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548216080	chr2:49423786-49423787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563625275	chr2:49423787-49423788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Breast cancer	17603634	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49409800-49437200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:49431200-49432200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:49437000-49437200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:49437000-49437400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:49437000-49437600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:49437000-49437800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:49437000-49437800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:49437000-49437800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:49437000-49437800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:49437200-49437400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:49437200-49437400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:49437200-49437600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:49437200-49437600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:49437200-49437600	Enhancers	Pancreas	Pancrea
15	chr2:49437400-49437600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:49443200-49443400	Enhancers	Aorta	Aorta
17	chr2:49444200-49444600	Enhancers	Fetal Brain Female	brain
18	chr2:49445200-49445800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:49448600-49449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:49449400-49450600	Enhancers	Osteobl	bone
21	chr2:49449400-49451400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:49449400-49453600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:49449600-49454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:49449800-49451000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:49450600-49451600	Weak transcription	Osteobl	bone
26	chr2:49451000-49452800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:49451200-49452200	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:49451400-49452200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:49451600-49452000	Enhancers	Fetal Muscle Leg	muscle
30	chr2:49451600-49452000	Enhancers	Osteobl	bone
31	chr2:49451800-49452400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:49451800-49452600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:49452000-49453200	Weak transcription	Osteobl	bone
34	chr2:49452200-49453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:49452800-49454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:49453200-49453800	Enhancers	Osteobl	bone
37	chr2:49453600-49453800	Enhancers	Fetal Muscle Leg	muscle
38	chr2:49453600-49454400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:49460400-49460600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:49460600-49460800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:49463600-49464200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:49464200-49469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:49465000-49465400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:49466000-49466800	Enhancers	Brain Hippocampus Middle	brain
45	chr2:49466400-49467000	Enhancers	Brain Substantia Nigra	brain
46	chr2:49466600-49467000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:49466600-49467800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:49467000-49469200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:49467400-49468800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:49467600-49468000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links