Variant report

Variant	nsv571823
Chromosome Location	chr16:31216909-31227908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:252)
CpG islands
(count:733)
Chromatin interactive
region (count:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:252 , 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	ARID3A	chr16:31226682-31226829	K562	blood:	n/a	n/a
2	ARID3A	chr16:31218152-31218613	HepG2	liver:	n/a	n/a
3	BACH1	chr16:31225956-31227549	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr16:31227815-31228368	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr16:31222856-31223227	GM12878	blood:	n/a	n/a
6	BHLHE40	chr16:31218258-31218336	K562	blood:	n/a	n/a
7	BHLHE40	chr16:31226382-31227401	K562	blood:	n/a	n/a
8	BHLHE40	chr16:31218158-31218491	HepG2	liver:	n/a	n/a
9	BHLHE40	chr16:31227208-31227294	GM12878	blood:	n/a	n/a
10	BRCA1	chr16:31226340-31226608	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr16:31226591-31227020	K562	blood:	n/a	n/a
12	CCNT2	chr16:31225901-31227087	K562	blood:	n/a	chr16:31226654-31226674
13	CEBPB	chr16:31218247-31218543	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr16:31226757-31227268	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr16:31226754-31227021	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr16:31226799-31226801	HepG2	liver:	n/a	n/a
17	CHD2	chr16:31226464-31226937	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr16:31225861-31227710	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr16:31219600-31219750	HepG2	liver:	n/a	n/a
20	CTCF	chr16:31226238-31226309	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr16:31226180-31226330	GM12875	blood:	n/a	n/a
22	CTCF	chr16:31226320-31226470	HEK293	kidney:	n/a	n/a
23	CTCF	chr16:31227360-31227510	GM12871	blood:	n/a	n/a
24	CTCF	chr16:31226438-31226442	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr16:31226280-31226430	BJ	skin:	n/a	n/a
26	CTCF	chr16:31226540-31226690	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr16:31226380-31226530	SAEC	small airway:	n/a	n/a
28	CTCF	chr16:31226220-31226305	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr16:31226940-31227090	A549	lung:	n/a	n/a
30	CTCF	chr16:31226260-31226410	GM12873	blood:	n/a	n/a
31	CTCF	chr16:31226140-31226290	GM12874	blood:	n/a	n/a
32	CTCF	chr16:31226260-31226410	GM12871	blood:	n/a	n/a
33	CTCF	chr16:31226140-31226290	AG04449	skin:	n/a	n/a
34	CTCF	chr16:31226200-31226350	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr16:31224900-31225050	HCT-116	colon:	n/a	chr16:31225041-31225049
36	CTCF	chr16:31226419-31226429	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr16:31226399-31226416	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr16:31226260-31226410	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr16:31226140-31226290	HCT-116	colon:	n/a	n/a
40	CTCF	chr16:31226220-31226370	GM12874	blood:	n/a	n/a
41	E2F6	chr16:31226281-31226567	K562	blood:	n/a	n/a
42	E2F6	chr16:31226212-31227283	K562	blood:	n/a	chr16:31226875-31226884 chr16:31226266-31226281
43	E2F6	chr16:31225860-31227526	H1-hESC	embryonic stem cell:	n/a	chr16:31226875-31226884 chr16:31225960-31225969 chr16:31226266-31226281
44	E2F6	chr16:31226313-31226501	K562	blood:	n/a	n/a
45	E2F6	chr16:31227876-31228515	H1-hESC	embryonic stem cell:	n/a	chr16:31228422-31228432
46	E2F6	chr16:31226574-31226978	K562	blood:	n/a	chr16:31226875-31226884
47	E2F6	chr16:31227855-31228660	H1-hESC	embryonic stem cell:	n/a	chr16:31228554-31228561 chr16:31228547-31228564 chr16:31228550-31228561 chr16:31228422-31228432 chr16:31228553-31228562
48	E2F6	chr16:31225893-31226914	H1-hESC	embryonic stem cell:	n/a	chr16:31226875-31226884 chr16:31225960-31225969 chr16:31226266-31226281
49	EBF1	chr16:31226580-31226840	GM12878	blood:	n/a	chr16:31226735-31226746 chr16:31226704-31226714 chr16:31226704-31226715
50	EBF1	chr16:31219493-31219788	GM12878	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31227515-31227565	HL-60	blood:	n/a
2	chr16:31227515-31227565	HL-60	blood:	n/a
3	chr16:31226760-31226810	SKMC	muscle:	n/a
4	chr16:31225350-31225400	HUVEC	blood vessel:	n/a
5	chr16:31225350-31225400	BJ	skin:	n/a
6	chr16:31226334-31226384	HNPCEpiC	eye:	n/a
7	chr16:31227884-31227934	HCT-116	colon:	n/a
8	chr16:31226760-31226810	GM19239	blood:	n/a
9	chr16:31227411-31227461	GM12878	blood:	n/a
10	chr16:31227515-31227565	PFSK-1	brain:	n/a
11	chr16:31225957-31226007	HRE	kidney:	n/a
12	chr16:31227515-31227565	Caco-2	colon:	n/a
13	chr16:31225350-31225400	HCT-116	colon:	n/a
14	chr16:31227497-31227547	NHDF-neo	bronchial:	n/a
15	chr16:31225234-31225284	NHDF-neo	bronchial:	n/a
16	chr16:31227272-31227322	A549	lung:	n/a
17	chr16:31227497-31227547	MCF10A-Er-Src	breast:	n/a
18	chr16:31225350-31225400	NH-A	brain:	n/a
19	chr16:31227411-31227461	HUVEC	blood vessel:	n/a
20	chr16:31226334-31226384	U87	brain:	n/a
21	chr16:31227884-31227934	RPTEC	kidney:	n/a
22	chr16:31226554-31226604	MCF10A-Er-Src	breast:	n/a
23	chr16:31225234-31225284	HCPEpiC	choroid plexus:	n/a
24	chr16:31227515-31227565	NB4	blood:	n/a
25	chr16:31226760-31226810	T-47D	breast:	n/a
26	chr16:31225234-31225284	Hela-S3	cervix:	n/a
27	chr16:31226334-31226384	HIPEpiC	eye:	n/a
28	chr16:31225234-31225284	IMR90	lung:	fetal
29	chr16:31227272-31227322	HRPEpiC	eye:	n/a
30	chr16:31227884-31227934	AG09319	gingival:	n/a
31	chr16:31225350-31225400	H1-hESC	embryonic stem cell:	embryo
32	chr16:31227411-31227461	A549	lung:	n/a
33	chr16:31225957-31226007	MCF-7	breast:	n/a
34	chr16:31227272-31227322	AG09309	skin:	n/a
35	chr16:31225357-31225407	Caco-2	colon:	n/a
36	chr16:31227497-31227547	GM19239	blood:	n/a
37	chr16:31227497-31227547	NHBE	bronchial:	n/a
38	chr16:31225350-31225400	PFSK-1	brain:	n/a
39	chr16:31227515-31227565	SK-N-SH	brain:	n/a
40	chr16:31227411-31227461	GM19239	blood:	n/a
41	chr16:31225357-31225407	NH-A	brain:	n/a
42	chr16:31227497-31227547	LNCaP	prostate:	n/a
43	chr16:31227497-31227547	NB4	blood:	n/a
44	chr16:31227497-31227547	GM12878	blood:	n/a
45	chr16:31227884-31227934	GM12891	blood:	n/a
46	chr16:31226554-31226604	HepG2	liver:	n/a
47	chr16:31226554-31226604	PANC-1	pancreas:	n/a
48	chr16:31225234-31225284	Jurkat	blood:	n/a
49	chr16:31225234-31225284	Caco-2	colon:	n/a
50	chr16:31225350-31225400	NHBE	bronchial:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31225327..31230953-chr16:31277531..31282411,8	MCF-7	breast:
2	chr16:31217446..31220627-chr16:31224134..31227211,5	MCF-7	breast:
3	chr16:31219002..31224135-chr16:31224460..31227404,5	K562	blood:
4	chr16:31216236..31218396-chr16:31220905..31223150,2	MCF-7	breast:
5	chr16:31222074..31224513-chr16:31230184..31232850,3	K562	blood:
6	chr16:31127390..31129807-chr16:31225827..31228203,2	MCF-7	breast:
7	chr16:31225418..31226936-chr16:31283356..31285312,2	MCF-7	breast:
8	chr16:31189605..31193047-chr16:31225207..31229243,8	MCF-7	breast:
9	chr16:31104754..31107641-chr16:31225871..31228750,3	MCF-7	breast:
10	chr16:31214850..31217153-chr16:31224265..31226762,3	MCF-7	breast:
11	chr16:31213529..31215380-chr16:31221470..31223477,2	MCF-7	breast:
12	chr16:31225061..31229339-chr16:31234222..31239323,4	MCF-7	breast:
13	chr16:31212056..31215309-chr16:31221663..31223428,4	MCF-7	breast:
14	chr16:31211041..31212980-chr16:31217003..31219469,2	MCF-7	breast:
15	chr16:31190600..31192869-chr16:31220930..31223164,2	MCF-7	breast:
16	chr16:30967372..30970193-chr16:31225350..31227883,2	MCF-7	breast:
17	chr16:31190054..31194646-chr16:31224217..31229118,11	MCF-7	breast:
18	chr16:31145063..31147795-chr16:31225870..31228416,3	MCF-7	breast:
19	chr16:31225508..31229530-chr16:31277117..31281279,6	MCF-7	breast:
20	chr16:31216236..31218396-chr16:31220905..31223150,2	MCF-7	breast:
21	chr16:31189409..31192124-chr16:31216229..31219095,3	MCF-7	breast:
22	chr16:31191149..31193514-chr16:31219994..31222533,2	MCF-7	breast:
23	chr16:31195350..31196887-chr16:31221042..31223196,2	MCF-7	breast:
24	chr16:31210451..31214037-chr16:31224426..31227776,4	MCF-7	breast:
25	chr12:76953253..76953783-chr16:31226137..31227053,2	HCT-116	colon:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PYDC1-1	chr16:31227644-31227691	NONHSAT141889
2	lnc-PYDC1-1	chr16:31227283-31227478	NONHSAT141889

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PYDC1	hsa-miR-34a-5p	chr16:31227307-31227328

Variant related genes	Relation type
PYDC1	TF binding region
PYCARD	TF binding region
TRIM72	TF binding region
PYDC1	CpG island
PYCARD	CpG island
TRIM72	CpG island
ENSG00000099381	chromatin interactions
ENSG00000103490	chromatin interactions
ENSG00000177238	chromatin interactions
ENSG00000103510	chromatin interactions
ENSG00000261359	chromatin interactions
ENSG00000261925	chromatin interactions
ENSG00000167397	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000091039	chromatin interactions
ENSG00000262766	chromatin interactions
ENSG00000255439	chromatin interactions
ENSG00000052344	chromatin interactions
ENSG00000252876	chromatin interactions
ENSG00000260304	chromatin interactions

Extended variants
information (count: 384 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4889633	chr16:31216909-31216910	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567653355	chr16:31216929-31216930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11641731	chr16:31216958-31216959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561155445	chr16:31216971-31216972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571625992	chr16:31216988-31216989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538712153	chr16:31217026-31217027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373646602	chr16:31217038-31217039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs557476807	chr16:31217068-31217069	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576148757	chr16:31217091-31217092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543678561	chr16:31217111-31217112	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555681249	chr16:31217179-31217180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539879575	chr16:31217209-31217210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372181687	chr16:31217210-31217211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77167611	chr16:31217262-31217263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368497147	chr16:31217264-31217265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541354915	chr16:31217265-31217266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531838700	chr16:31217268-31217269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559348876	chr16:31217271-31217272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571717105	chr16:31217272-31217273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544772072	chr16:31217278-31217279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538057219	chr16:31217291-31217292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563435328	chr16:31217302-31217303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs36010932	chr16:31217322-31217323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371886494	chr16:31217323-31217324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376174478	chr16:31217325-31217326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201568936	chr16:31217327-31217328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200215299	chr16:31217332-31217333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369199754	chr16:31217334-31217335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200991459	chr16:31217335-31217336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371554543	chr16:31217337-31217338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184752270	chr16:31217380-31217381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554835681	chr16:31217400-31217401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567738261	chr16:31217436-31217437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71151451	chr16:31217455-31217456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372063309	chr16:31217483-31217484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs202197525	chr16:31217489-31217490	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs141248845	chr16:31217490-31217491	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373394465	chr16:31217501-31217502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573199161	chr16:31217521-31217522	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369173596	chr16:31217522-31217523	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201512043	chr16:31217567-31217568	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374805746	chr16:31217610-31217611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146944146	chr16:31217623-31217624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561167834	chr16:31217674-31217675	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528725413	chr16:31217707-31217708	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201612333	chr16:31217783-31217784	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374773219	chr16:31217808-31217809	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368858943	chr16:31217870-31217871	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571548282	chr16:31217877-31217878	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs150789843	chr16:31217976-31217977	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31214400-31218000	Weak transcription	K562	blood
2	chr16:31214600-31217800	Weak transcription	Pancreas	Pancrea
3	chr16:31214600-31218000	Weak transcription	Fetal Intestine Large	intestine
4	chr16:31214800-31217800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr16:31214800-31218200	Weak transcription	Fetal Intestine Small	intestine
6	chr16:31215000-31217600	Weak transcription	NHEK	skin
7	chr16:31215200-31218000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr16:31215200-31218200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:31215400-31217800	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:31215400-31218000	Weak transcription	Hela-S3	cervix
11	chr16:31215400-31218400	Weak transcription	A549	lung
12	chr16:31215400-31218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:31215400-31219400	Weak transcription	Colonic Mucosa	Colon
14	chr16:31215600-31223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:31216200-31222600	Weak transcription	GM12878-XiMat	blood
16	chr16:31216400-31218000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:31216600-31218400	Weak transcription	Spleen	Spleen
18	chr16:31217800-31218000	Enhancers	NHEK	skin
19	chr16:31217800-31218200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:31217800-31218200	Enhancers	Fetal Muscle Leg	muscle
21	chr16:31217800-31218800	Enhancers	Pancreas	Pancrea
22	chr16:31217800-31219000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr16:31217800-31219000	Bivalent Enhancer	HepG2	liver
24	chr16:31218000-31218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr16:31218000-31218200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr16:31218000-31218200	Bivalent Enhancer	Fetal Stomach	stomach
27	chr16:31218000-31218400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:31218000-31218400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr16:31218000-31218400	Enhancers	Hela-S3	cervix
30	chr16:31218000-31218600	Enhancers	Fetal Heart	heart
31	chr16:31218000-31219000	Enhancers	K562	blood
32	chr16:31218000-31219800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr16:31218000-31220200	Enhancers	Fetal Intestine Large	intestine
34	chr16:31218000-31220400	Enhancers	Duodenum Mucosa	Duodenum
35	chr16:31218200-31219200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr16:31218200-31219400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr16:31218200-31220800	Enhancers	Fetal Intestine Small	intestine
38	chr16:31218400-31218800	Enhancers	Spleen	Spleen
39	chr16:31218600-31218800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr16:31218600-31218800	Enhancers	Small Intestine	intestine
41	chr16:31218600-31219200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:31218800-31219000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr16:31218800-31219600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr16:31218800-31225200	Weak transcription	Spleen	Spleen
45	chr16:31219000-31219200	Flanking Bivalent TSS/Enh	HepG2	liver
46	chr16:31219000-31226400	Weak transcription	K562	blood
47	chr16:31219200-31220000	Bivalent Enhancer	HepG2	liver
48	chr16:31219200-31224800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:31219400-31219600	Enhancers	Colonic Mucosa	Colon
50	chr16:31219400-31219600	Enhancers	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links