Variant report

Variant	nsv1038867
Chromosome Location	chr13:62302878-62594554
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	BRCA1	chr13:62528352-62528541	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr13:62303398-62303733	IMR90	lung:	n/a	chr13:62303562-62303573
3	CEBPB	chr13:62564152-62564458	K562	blood:	n/a	chr13:62564307-62564318
4	CEBPB	chr13:62369745-62370048	HepG2	liver:	n/a	chr13:62369898-62369909
5	CEBPB	chr13:62342495-62342652	A549	lung:	n/a	chr13:62342569-62342580
6	CEBPB	chr13:62384283-62384529	A549	lung:	n/a	chr13:62384380-62384393 chr13:62384382-62384391 chr13:62384382-62384391 chr13:62384380-62384391 chr13:62384382-62384391 chr13:62384382-62384391
7	CEBPB	chr13:62406928-62407159	H1-hESC	embryonic stem cell:	n/a	chr13:62407052-62407063 chr13:62407054-62407065 chr13:62407054-62407063
8	CEBPB	chr13:62570699-62570994	HepG2	liver:	n/a	chr13:62570841-62570852
9	CEBPB	chr13:62384219-62384538	HepG2	liver:	n/a	chr13:62384380-62384393 chr13:62384382-62384391 chr13:62384382-62384391 chr13:62384380-62384391 chr13:62384382-62384391 chr13:62384382-62384391
10	CEBPB	chr13:62576755-62576995	A549	lung:	n/a	chr13:62576888-62576899
11	CEBPB	chr13:62576732-62577043	HepG2	liver:	n/a	chr13:62576888-62576899
12	CEBPB	chr13:62317223-62317406	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr13:62576756-62577069	IMR90	lung:	n/a	chr13:62576888-62576899
14	CEBPB	chr13:62564189-62564477	H1-hESC	embryonic stem cell:	n/a	chr13:62564307-62564318
15	CEBPB	chr13:62342409-62342744	HepG2	liver:	n/a	chr13:62342569-62342580
16	CEBPB	chr13:62303404-62303697	K562	blood:	n/a	chr13:62303562-62303573
17	CEBPB	chr13:62303505-62303649	H1-hESC	embryonic stem cell:	n/a	chr13:62303562-62303573
18	CEBPB	chr13:62406890-62407216	HepG2	liver:	n/a	chr13:62407052-62407063 chr13:62407054-62407065 chr13:62407054-62407063
19	CEBPB	chr13:62303410-62303713	HepG2	liver:	n/a	chr13:62303562-62303573
20	CEBPB	chr13:62570732-62571005	A549	lung:	n/a	chr13:62570841-62570852
21	CEBPB	chr13:62564130-62564492	HepG2	liver:	n/a	chr13:62564307-62564318
22	CEBPB	chr13:62405758-62406057	IMR90	lung:	n/a	chr13:62405908-62405919 chr13:62405908-62405917 chr13:62405906-62405919 chr13:62405908-62405919 chr13:62405908-62405917 chr13:62405906-62405917 chr13:62405906-62405919 chr13:62405908-62405917 chr13:62405906-62405919 chr13:62405908-62405917
23	CEBPB	chr13:62369725-62370007	Hela-S3	cervix:	n/a	chr13:62369898-62369909
24	CEBPB	chr13:62405791-62406075	H1-hESC	embryonic stem cell:	n/a	chr13:62405908-62405919 chr13:62405908-62405917 chr13:62405906-62405919 chr13:62405908-62405919 chr13:62405908-62405917 chr13:62405906-62405917 chr13:62405906-62405919 chr13:62405908-62405917 chr13:62405906-62405919 chr13:62405908-62405917
25	CEBPB	chr13:62406904-62407246	IMR90	lung:	n/a	chr13:62407052-62407063 chr13:62407054-62407065 chr13:62407054-62407063
26	CEBPB	chr13:62317118-62317406	IMR90	lung:	n/a	n/a
27	CEBPB	chr13:62376654-62376867	HepG2	liver:	n/a	chr13:62376773-62376784 chr13:62376773-62376786 chr13:62376770-62376787 chr13:62376773-62376786
28	CEBPB	chr13:62352659-62352822	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr13:62405752-62406084	HepG2	liver:	n/a	chr13:62405908-62405919 chr13:62405908-62405917 chr13:62405906-62405919 chr13:62405908-62405919 chr13:62405908-62405917 chr13:62405906-62405917 chr13:62405906-62405919 chr13:62405908-62405917 chr13:62405906-62405919 chr13:62405908-62405917
30	CEBPB	chr13:62564130-62564487	IMR90	lung:	n/a	chr13:62564307-62564318
31	CEBPB	chr13:62369746-62370030	A549	lung:	n/a	chr13:62369898-62369909
32	CEBPB	chr13:62564154-62564493	Hela-S3	cervix:	n/a	chr13:62564307-62564318
33	CTCF	chr13:62455060-62455210	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr13:62455020-62455170	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr13:62455060-62455210	GM12878	blood:	n/a	n/a
36	CTCF	chr13:62528381-62528453	GM13976	blood:	n/a	chr13:62528432-62528453
37	CTCF	chr13:62455069-62455220	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:62528340-62528490	Hela-S3	cervix:	n/a	chr13:62528437-62528455 chr13:62528432-62528453 chr13:62528438-62528454
39	CTCF	chr13:62528360-62528510	GM12878	blood:	n/a	chr13:62528437-62528455 chr13:62528432-62528453 chr13:62528438-62528454
40	CTCF	chr13:62455060-62455210	GM12865	blood:	n/a	n/a
41	CTCF	chr13:62455100-62455250	AG04450	lung:	n/a	n/a
42	CTCF	chr13:62455040-62455190	GM12866	blood:	n/a	n/a
43	CTCF	chr13:62588620-62588770	RPTEC	kidney:	n/a	n/a
44	CTCF	chr13:62588504-62588715	SK-N-SH_RA	brain:	n/a	chr13:62588592-62588608 chr13:62588591-62588609 chr13:62588593-62588614
45	CTCF	chr13:62528280-62528430	A549	lung:	n/a	n/a
46	CTCF	chr13:62528380-62528530	HBMEC	blood vessel:	n/a	chr13:62528437-62528455 chr13:62528432-62528453 chr13:62528438-62528454
47	CTCF	chr13:62588460-62588610	SAEC	small airway:	n/a	chr13:62588592-62588608 chr13:62588591-62588609
48	CTCF	chr13:62588700-62588850	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr13:62528380-62528530	Hela-S3	cervix:	n/a	chr13:62528437-62528455 chr13:62528432-62528453 chr13:62528438-62528454
50	CTCF	chr13:62588480-62588630	HA-sp	spinal cord:	n/a	chr13:62588592-62588608 chr13:62588591-62588609 chr13:62588593-62588614

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:62516636-62516686	BJ	skin:	n/a
2	chr13:62516636-62516686	BJ	skin:	n/a
3	chr13:62515876-62515926	CMK	blood:	n/a
4	chr13:62515965-62516015	NT2-D1	testis:	n/a
5	chr13:62516580-62516630	U87	brain:	n/a
6	chr13:62515876-62515926	RPTEC	kidney:	n/a
7	chr13:62516163-62516213	AG09309	skin:	n/a
8	chr13:62516580-62516630	Jurkat	blood:	n/a
9	chr13:62516040-62516090	AG04450	lung:	fetal
10	chr13:62516636-62516686	AoSMC	blood vessel:	n/a
11	chr13:62516113-62516163	ECC-1	luminal epithelium:	n/a
12	chr13:62516113-62516163	AoSMC	blood vessel:	n/a
13	chr13:62515876-62515926	HRE	kidney:	n/a
14	chr13:62516163-62516213	HEEpiC	esophagus:	n/a
15	chr13:62516113-62516163	T-47D	breast:	n/a
16	chr13:62516636-62516686	MCF10A-Er-Src	breast:	n/a
17	chr13:62515965-62516015	PFSK-1	brain:	n/a
18	chr13:62515876-62515926	T-47D	breast:	n/a
19	chr13:62516580-62516630	ECC-1	luminal epithelium:	n/a
20	chr13:62516040-62516090	NH-A	brain:	n/a
21	chr13:62515965-62516015	Hepatocyte	liver:	n/a
22	chr13:62515965-62516015	HPAEpiC	pulmonary alveolar:	n/a
23	chr13:62516113-62516163	HEEpiC	esophagus:	n/a
24	chr13:62516163-62516213	BJ	skin:	n/a
25	chr13:62515876-62515926	Jurkat	blood:	n/a
26	chr13:62515965-62516015	GM06990	blood:	n/a
27	chr13:62516040-62516090	H1-hESC	embryonic stem cell:	embryo
28	chr13:62516580-62516630	Caco-2	colon:	n/a
29	chr13:62516580-62516630	SK-N-SH	brain:	n/a
30	chr13:62516163-62516213	HCF	heart:	n/a
31	chr13:62515876-62515926	PFSK-1	brain:	n/a
32	chr13:62516040-62516090	GM12891	blood:	n/a
33	chr13:62516636-62516686	HPAEpiC	pulmonary alveolar:	n/a
34	chr13:62516113-62516163	Jurkat	blood:	n/a
35	chr13:62516636-62516686	Hela-S3	cervix:	n/a
36	chr13:62515965-62516015	AG04449	skin:	fetal
37	chr13:62516113-62516163	LNCaP	prostate:	n/a
38	chr13:62515965-62516015	SK-N-SH	brain:	n/a
39	chr13:62516636-62516686	AG04449	skin:	fetal
40	chr13:62515965-62516015	HRPEpiC	eye:	n/a
41	chr13:62516163-62516213	Caco-2	colon:	n/a
42	chr13:62516163-62516213	HRCEpiC	kidney:	n/a
43	chr13:62516040-62516090	AG09309	skin:	n/a
44	chr13:62516580-62516630	HCM	heart:	n/a
45	chr13:62516163-62516213	HNPCEpiC	eye:	n/a
46	chr13:62516163-62516213	AG09319	gingival:	n/a
47	chr13:62516040-62516090	HCPEpiC	choroid plexus:	n/a
48	chr13:62516163-62516213	H1-hESC	embryonic stem cell:	embryo
49	chr13:62516636-62516686	RPTEC	kidney:	n/a
50	chr13:62516636-62516686	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:62549291..62551887-chr13:62564768..62566539,2	K562	blood:
2	chr13:62588294..62590815-chr13:62591297..62594105,2	K562	blood:
3	chr13:62454539..62455596-chr13:62527363..62528851,4	MCF-7	breast:
4	chr13:62303864..62306706-chr13:62308709..62311523,2	K562	blood:
5	chr13:62454539..62455596-chr13:62527363..62528851,4	MCF-7	breast:
6	chr13:62454695..62455293-chr13:62527943..62528961,3	MCF-7	breast:
7	chr13:62303864..62306706-chr13:62308709..62311523,2	K562	blood:
8	chr13:62454695..62455293-chr13:62527943..62528961,3	MCF-7	breast:
9	chr13:62588294..62590815-chr13:62591297..62594105,2	K562	blood:
10	chr1:17240547..17241313-chr13:62356727..62357247,2	Hela-S3	cervix:
11	chr13:62549291..62551887-chr13:62564768..62566539,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-1	chr13:62577659-62578643	NONHSAT034137
2	lnc-TDRD3-13	chr13:62379283-62379809	NONHSAT034135
3	lnc-PCDH20-1	chr13:62577291-62577307	NONHSAT034137
4	lnc-PCDH20-1	chr13:62577658-62578643	NR_046995
5	lnc-PCDH20-1	chr13:62578267-62578643	XLOC_010635
6	lnc-PCDH20-1	chr13:62578226-62578643	XLOC_010635

Variant related genes	Relation type
ENSG00000212007	TF binding region
ENSG00000270856	TF binding region
RAC1P8	TF binding region
ENSG00000212007	CpG island
ENSG00000270856	CpG island
RAC1P8	CpG island

Extended variants
information (count: 2381 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2381 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547122150	chr13:62302918-62302919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142593346	chr13:62302953-62302954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367888821	chr13:62302955-62302956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571820649	chr13:62302998-62302999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116555539	chr13:62303003-62303004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188281396	chr13:62303013-62303014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571751898	chr13:62303043-62303044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115779164	chr13:62303067-62303068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9539271	chr13:62303096-62303097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78101389	chr13:62303104-62303105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539900707	chr13:62303110-62303111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200134342	chr13:62303120-62303121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149697732	chr13:62303122-62303123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113369578	chr13:62303126-62303127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564642959	chr13:62303135-62303136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34685420	chr13:62303193-62303194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191334803	chr13:62303210-62303211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183876807	chr13:62303225-62303226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373497906	chr13:62303293-62303294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117271480	chr13:62303299-62303300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544820458	chr13:62303309-62303310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117672028	chr13:62303345-62303346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201488982	chr13:62303362-62303363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539954892	chr13:62310278-62310279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376539960	chr13:62310286-62310287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186291730	chr13:62310358-62310359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74081607	chr13:62310446-62310447	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191081314	chr13:62310477-62310478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530928340	chr13:62310482-62310483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs543070139	chr13:62310560-62310561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs181525721	chr13:62310580-62310581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528571667	chr13:62310616-62310617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115171533	chr13:62310617-62310618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34289387	chr13:62310630-62310631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs186395819	chr13:62310631-62310632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569548586	chr13:62310637-62310638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148554421	chr13:62310663-62310664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569480086	chr13:62310676-62310677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76625047	chr13:62310689-62310690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2323482	chr13:62310709-62310710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532296812	chr13:62310748-62310749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566151221	chr13:62310865-62310866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533596207	chr13:62310873-62310874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551802054	chr13:62310887-62310888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576955467	chr13:62310894-62310895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537689349	chr13:62310902-62310903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191714209	chr13:62310906-62310907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574675642	chr13:62310945-62310946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67276133	chr13:62310948-62310949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565490139	chr13:62310964-62310965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62301600-62303400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:62301800-62303000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:62301800-62303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:62302000-62303000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:62302000-62303000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:62302000-62303000	Enhancers	Stomach Smooth Muscle	stomach
7	chr13:62302000-62303000	Enhancers	NH-A	brain
8	chr13:62302000-62303200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr13:62302000-62303200	Enhancers	Colon Smooth Muscle	Colon
10	chr13:62302000-62303200	Enhancers	Fetal Kidney	kidney
11	chr13:62302000-62303200	Enhancers	Fetal Lung	lung
12	chr13:62302200-62303000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr13:62302400-62303200	Enhancers	Adipose Nuclei	Adipose
14	chr13:62302600-62303000	Enhancers	Brain Angular Gyrus	brain
15	chr13:62302600-62303000	Enhancers	Fetal Stomach	stomach
16	chr13:62302600-62303200	Enhancers	Rectal Smooth Muscle	rectum
17	chr13:62302800-62303200	Enhancers	Brain Cingulate Gyrus	brain
18	chr13:62310200-62310600	ZNF genes & repeats	Fetal Lung	lung
19	chr13:62310600-62312000	Weak transcription	Fetal Lung	lung
20	chr13:62312000-62312800	Enhancers	Fetal Lung	lung
21	chr13:62312600-62313000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:62339600-62344800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:62340600-62341200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:62340600-62341200	Active TSS	Spleen	Spleen
25	chr13:62345000-62345200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:62345000-62345200	Enhancers	Brain Hippocampus Middle	brain
27	chr13:62345200-62348800	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:62348400-62349200	Enhancers	Fetal Intestine Large	intestine
29	chr13:62348400-62349200	Enhancers	Fetal Intestine Small	intestine
30	chr13:62348600-62349000	Enhancers	Brain Substantia Nigra	brain
31	chr13:62348600-62349400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:62348600-62351800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr13:62348800-62349000	Enhancers	Brain Anterior Caudate	brain
34	chr13:62348800-62349600	Enhancers	Brain Hippocampus Middle	brain
35	chr13:62349000-62349400	Weak transcription	Brain Substantia Nigra	brain
36	chr13:62349400-62349600	Enhancers	Brain Substantia Nigra	brain
37	chr13:62349400-62350600	Weak transcription	Brain Anterior Caudate	brain
38	chr13:62349400-62351200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:62349400-62351800	Enhancers	Brain Angular Gyrus	brain
40	chr13:62349600-62350400	Weak transcription	Brain Substantia Nigra	brain
41	chr13:62349600-62350800	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:62349600-62351600	Enhancers	Brain Cingulate Gyrus	brain
43	chr13:62350400-62351800	Enhancers	Brain Substantia Nigra	brain
44	chr13:62350600-62351800	Enhancers	Brain Anterior Caudate	brain
45	chr13:62350800-62352800	Enhancers	Brain Hippocampus Middle	brain
46	chr13:62351000-62351600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr13:62351000-62351800	Enhancers	Fetal Muscle Leg	muscle
48	chr13:62351000-62351800	Enhancers	Fetal Stomach	stomach
49	chr13:62351000-62352400	Enhancers	Fetal Lung	lung
50	chr13:62351200-62351600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links