Variant report

Variant	nsv1013368
Chromosome Location	chr2:50848971-50972284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:299)
CpG islands
(count:366)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:50955596-50955702	K562	blood:	n/a	n/a
2	CEBPB	chr2:50919262-50919518	K562	blood:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
3	CEBPB	chr2:50854209-50854495	HepG2	liver:	n/a	chr2:50854319-50854330 chr2:50854320-50854331 chr2:50854319-50854332
4	CEBPB	chr2:50952000-50952353	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:50952033-50952347	A549	lung:	n/a	n/a
6	CEBPB	chr2:50858684-50858994	HepG2	liver:	n/a	chr2:50858808-50858817 chr2:50858807-50858818 chr2:50858808-50858817 chr2:50858808-50858817 chr2:50858806-50858817 chr2:50858808-50858817
7	CEBPB	chr2:50854196-50854476	IMR90	lung:	n/a	chr2:50854319-50854330 chr2:50854320-50854331 chr2:50854319-50854332
8	CEBPB	chr2:50854171-50854480	A549	lung:	n/a	chr2:50854319-50854330 chr2:50854320-50854331 chr2:50854319-50854332
9	CEBPB	chr2:50952036-50952291	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:50919242-50919552	HepG2	liver:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
11	CEBPB	chr2:50951993-50952357	IMR90	lung:	n/a	n/a
12	CEBPB	chr2:50919241-50919557	IMR90	lung:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
13	CEBPB	chr2:50954382-50954517	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:50951301-50951586	HepG2	liver:	n/a	chr2:50951423-50951436 chr2:50951424-50951435
15	CEBPB	chr2:50890728-50891191	HepG2	liver:	n/a	chr2:50890749-50890760 chr2:50891044-50891055
16	CHD2	chr2:50947884-50948198	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:50902116-50902324	GM12892	blood:	n/a	n/a
18	CTCF	chr2:50902080-50902230	GM12869	blood:	n/a	n/a
19	CTCF	chr2:50889625-50889634	Gliobla	brain:	n/a	n/a
20	CTCF	chr2:50902100-50902250	NHEK	skin:	n/a	n/a
21	CTCF	chr2:50902100-50902250	GM12874	blood:	n/a	n/a
22	CTCF	chr2:50902120-50902270	A549	lung:	n/a	n/a
23	CTCF	chr2:50902146-50902299	GM19238	blood:	n/a	n/a
24	CTCF	chr2:50902176-50902276	GM10248	blood:	n/a	n/a
25	CTCF	chr2:50902140-50902290	GM12865	blood:	n/a	n/a
26	CTCF	chr2:50902138-50902315	NHEK	skin:	n/a	n/a
27	CTCF	chr2:50902120-50902270	GM12874	blood:	n/a	n/a
28	CTCF	chr2:50902140-50902290	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr2:50902140-50902290	GM06990	blood:	n/a	n/a
30	CTCF	chr2:50902080-50902230	NHEK	skin:	n/a	n/a
31	CTCF	chr2:50902080-50902230	HL-60	blood:	n/a	n/a
32	CTCF	chr2:50902180-50902330	HA-sp	spinal cord:	n/a	n/a
33	CTCF	chr2:50902140-50902290	GM12872	blood:	n/a	n/a
34	CTCF	chr2:50902155-50902320	GM12878	blood:	n/a	n/a
35	CTCF	chr2:50902013-50902311	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr2:50902120-50902270	GM12866	blood:	n/a	n/a
37	CTCF	chr2:50902173-50902283	HepG2	liver:	n/a	n/a
38	CTCF	chr2:50902163-50902293	Gliobla	brain:	n/a	n/a
39	CTCF	chr2:50902100-50902250	GM12865	blood:	n/a	n/a
40	CTCF	chr2:50902200-50902350	GM12869	blood:	n/a	n/a
41	CTCF	chr2:50889588-50889678	GM19239	blood:	n/a	n/a
42	CTCF	chr2:50902170-50902253	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:50902080-50902230	GM12875	blood:	n/a	n/a
44	CTCF	chr2:50902140-50902290	GM12873	blood:	n/a	n/a
45	CTCF	chr2:50902120-50902270	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr2:50902140-50902290	NB4	blood:	n/a	n/a
47	CTCF	chr2:50902035-50902240	K562	blood:	n/a	n/a
48	CTCF	chr2:50902120-50902270	GM12878	blood:	n/a	n/a
49	CTCF	chr2:50902140-50902290	HMEC	breast:	n/a	n/a
50	CTCF	chr2:50889610-50889663	GM12891	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:50863603-50863653	LNCaP	prostate:	n/a
2	chr2:50884693-50884743	ProgFib	skin:	n/a
3	chr2:50852209-50852259	SKMC	muscle:	n/a
4	chr2:50876837-50876887	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:50852209-50852259	NT2-D1	testis:	n/a
6	chr2:50876837-50876887	GM19239	blood:	n/a
7	chr2:50876837-50876887	NT2-D1	testis:	n/a
8	chr2:50956659-50956709	HL-60	blood:	n/a
9	chr2:50884693-50884743	T-47D	breast:	n/a
10	chr2:50884252-50884302	GM12892	blood:	n/a
11	chr2:50956659-50956709	NHDF-neo	bronchial:	n/a
12	chr2:50884693-50884743	HCM	heart:	n/a
13	chr2:50863603-50863653	ovcar-3	ovarian:	n/a
14	chr2:50884693-50884743	HNPCEpiC	eye:	n/a
15	chr2:50852209-50852259	SK-N-MC	brain:	n/a
16	chr2:50956659-50956709	AG04450	lung:	fetal
17	chr2:50852209-50852259	BE2_C	brain:	n/a
18	chr2:50884252-50884302	CMK	blood:	n/a
19	chr2:50876837-50876887	PANC-1	pancreas:	n/a
20	chr2:50956659-50956709	H1-hESC	embryonic stem cell:	embryo
21	chr2:50852209-50852259	HCPEpiC	choroid plexus:	n/a
22	chr2:50876837-50876887	AG09309	skin:	n/a
23	chr2:50863603-50863653	HPAEpiC	pulmonary alveolar:	n/a
24	chr2:50884693-50884743	SK-N-SH	brain:	n/a
25	chr2:50852209-50852259	HRPEpiC	eye:	n/a
26	chr2:50884252-50884302	BE2_C	brain:	n/a
27	chr2:50884252-50884302	ovcar-3	ovarian:	n/a
28	chr2:50876837-50876887	Jurkat	blood:	n/a
29	chr2:50956659-50956709	NH-A	brain:	n/a
30	chr2:50863603-50863653	HRPEpiC	eye:	n/a
31	chr2:50876837-50876887	HCT-116	colon:	n/a
32	chr2:50884693-50884743	HCPEpiC	choroid plexus:	n/a
33	chr2:50884252-50884302	NHBE	bronchial:	n/a
34	chr2:50852209-50852259	IMR90	lung:	fetal
35	chr2:50884252-50884302	SK-N-SH	brain:	n/a
36	chr2:50852209-50852259	AG09319	gingival:	n/a
37	chr2:50884252-50884302	AG04449	skin:	fetal
38	chr2:50884252-50884302	HepG2	liver:	n/a
39	chr2:50852209-50852259	AG04450	lung:	fetal
40	chr2:50876837-50876887	MCF-7	breast:	n/a
41	chr2:50876837-50876887	SK-N-SH	brain:	n/a
42	chr2:50852209-50852259	GM19239	blood:	n/a
43	chr2:50956659-50956709	NT2-D1	testis:	n/a
44	chr2:50956659-50956709	CMK	blood:	n/a
45	chr2:50956659-50956709	SK-N-SH_RA	brain:	n/a
46	chr2:50884252-50884302	SK-N-SH_RA	brain:	n/a
47	chr2:50956659-50956709	PrEC	prostate:	n/a
48	chr2:50863603-50863653	HMEC	breast:	n/a
49	chr2:50956659-50956709	SK-N-SH	brain:	n/a
50	chr2:50884252-50884302	NB4	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:50884335..50886694-chr2:50887318..50889235,3	K562	blood:
2	chr2:50909775..50912434-chr2:50920496..50923402,2	MCF-7	breast:
3	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
4	chr2:50883231..50884999-chr2:50887642..50889397,2	MCF-7	breast:
5	chr2:50884111..50885778-chr2:50886770..50888521,2	MCF-7	breast:
6	chr2:50946676..50947176-chr20:60981159..60981778,2	MCF-7	breast:
7	chr2:50884335..50886694-chr2:50887318..50889235,3	K562	blood:
8	chr2:50884111..50885778-chr2:50886770..50888521,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON1-GTF2A1L-4	chr2:50851950-50852041	NONHSAT070645
2	lnc-STON1-GTF2A1L-4	chr2:50858415-50858521	NONHSAT070645
3	lnc-STON1-GTF2A1L-4	chr2:50859486-50859749	NONHSAT070645

No data

Variant related genes	Relation type
ENSG00000216191	TF binding region
NRXN1	TF binding region
ENSG00000216191	CpG island
NRXN1	CpG island
ENSG00000179915	chromatin interactions
ENSG00000216191	chromatin interactions

Extended variants
information (count: 4369 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:4369 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184737498	chr2:50848979-50848980	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186825062	chr2:50848984-50848985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149360789	chr2:50848989-50848990	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372328576	chr2:50849032-50849033	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570014926	chr2:50849038-50849039	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536927162	chr2:50849069-50849070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558753236	chr2:50849090-50849091	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573026685	chr2:50849112-50849113	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191290954	chr2:50849121-50849122	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576977870	chr2:50849154-50849155	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541190690	chr2:50849170-50849171	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553849399	chr2:50849191-50849192	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184255511	chr2:50849250-50849251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542652051	chr2:50849326-50849327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547871656	chr2:50849332-50849333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368276978	chr2:50849353-50849354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376619563	chr2:50849379-50849380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7576283	chr2:50849405-50849406	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536715320	chr2:50849406-50849407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7590315	chr2:50849421-50849422	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146341442	chr2:50849452-50849453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532601434	chr2:50849501-50849502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547969987	chr2:50849516-50849517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565821837	chr2:50849559-50849560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189703715	chr2:50849607-50849608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7602917	chr2:50849724-50849725	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs569655956	chr2:50849745-50849746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115552036	chr2:50849784-50849785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112618047	chr2:50849793-50849794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6741643	chr2:50849814-50849815	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570677426	chr2:50849861-50849862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534525239	chr2:50849876-50849877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552737102	chr2:50849997-50849998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572253312	chr2:50850019-50850020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536324274	chr2:50850023-50850024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554576682	chr2:50850035-50850036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576372868	chr2:50850052-50850053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369130433	chr2:50850059-50850060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539358439	chr2:50850092-50850093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139607006	chr2:50850098-50850099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144420535	chr2:50850104-50850105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541692688	chr2:50850114-50850115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181234072	chr2:50850158-50850159	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs529851500	chr2:50850216-50850217	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs151081617	chr2:50850221-50850222	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs78030824	chr2:50850255-50850256	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs563365906	chr2:50850259-50850260	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530424817	chr2:50850266-50850267	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552108670	chr2:50850267-50850268	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs570692810	chr2:50850327-50850328	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50838800-50849400	Weak transcription	Fetal Brain Female	brain
2	chr2:50839000-50851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:50843000-50853600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:50847000-50849400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:50847800-50849400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:50848000-50850400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:50848200-50851800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:50848400-50850200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:50848600-50849000	Enhancers	Brain Substantia Nigra	brain
10	chr2:50848600-50849400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:50848600-50850600	Strong transcription	Brain Germinal Matrix	brain
12	chr2:50848800-50849400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:50849400-50850400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:50849400-50854600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:50850200-50850600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:50850200-50850600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:50850200-50850800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:50850200-50850800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:50850400-50850600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:50850400-50850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:50850400-50850800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:50850400-50850800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:50850600-50850800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:50850600-50851600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:50850600-50852600	Weak transcription	Brain Germinal Matrix	brain
26	chr2:50850800-50851200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:50850800-50851800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:50850800-50854800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:50851200-50852400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:50851600-50852000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:50851800-50852000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:50851800-50852000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:50851800-50852400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:50852000-50854400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:50854400-50855200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:50854600-50854800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:50854800-50855000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:50854800-50855200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:50854800-50860200	Weak transcription	Fetal Brain Male	brain
40	chr2:50855200-50862600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:50860200-50860400	Enhancers	Fetal Brain Male	brain
42	chr2:50862000-50863600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:50862000-50863800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr2:50862000-50864600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:50862600-50863600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:50862600-50864000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:50862600-50865800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:50862800-50863800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:50862800-50865800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:50863000-50864200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links