Variant report

Variant	esv2756816
Chromosome Location	chr16:80972279-81027142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:975)
CpG islands
(count:183)
Chromatin interactive
region (count:67)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:81024192-81024348	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:81025280-81026076	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:81026947-81027271	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:81008565-81008842	K562	blood:	n/a	n/a
5	ARID3A	chr16:80992390-80992446	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:81008535-81008884	HepG2	liver:	n/a	n/a
7	ARID3A	chr16:81026852-81027349	K562	blood:	n/a	n/a
8	ARID3A	chr16:81002441-81002634	HepG2	liver:	n/a	n/a
9	ARID3A	chr16:81024660-81024859	HepG2	liver:	n/a	n/a
10	ATF1	chr16:81026925-81027244	K562	blood:	n/a	n/a
11	BACH1	chr16:80982734-80983058	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr16:81021115-81021422	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL11A	chr16:81021158-81021393	H1-hESC	embryonic stem cell:	n/a	n/a
14	BHLHE40	chr16:80972031-80972312	HepG2	liver:	n/a	n/a
15	BHLHE40	chr16:80982822-80983068	GM12878	blood:	n/a	n/a
16	BHLHE40	chr16:80982838-80983179	K562	blood:	n/a	n/a
17	BHLHE40	chr16:81026922-81027302	K562	blood:	n/a	n/a
18	BHLHE40	chr16:81008523-81008637	K562	blood:	n/a	n/a
19	BHLHE40	chr16:80988898-80989238	HepG2	liver:	n/a	n/a
20	BRCA1	chr16:81026384-81027436	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr16:80971818-80973037	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr16:81026802-81027336	K562	blood:	n/a	n/a
23	CCNT2	chr16:81026925-81027163	K562	blood:	n/a	n/a
24	CEBPB	chr16:80982802-80983111	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr16:80980501-80980701	H1-hESC	embryonic stem cell:	n/a	chr16:80980597-80980608 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980595-80980606 chr16:80980595-80980608 chr16:80980595-80980608 chr16:80980597-80980606 chr16:80980595-80980608
26	CEBPB	chr16:81001594-81001885	HepG2	liver:	n/a	n/a
27	CEBPB	chr16:81026971-81027174	K562	blood:	n/a	n/a
28	CEBPB	chr16:80980415-80980761	Hela-S3	cervix:	n/a	chr16:80980597-80980608 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980595-80980606 chr16:80980595-80980608 chr16:80980595-80980608 chr16:80980597-80980606 chr16:80980595-80980608
29	CEBPB	chr16:81025451-81025664	HepG2	liver:	n/a	n/a
30	CEBPB	chr16:80971598-80973019	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr16:80982790-80983150	K562	blood:	n/a	n/a
32	CEBPB	chr16:81012924-81012987	K562	blood:	n/a	n/a
33	CEBPB	chr16:81018292-81018412	HepG2	liver:	n/a	chr16:81018321-81018332
34	CEBPB	chr16:80980424-80980687	A549	lung:	n/a	chr16:80980597-80980608 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980595-80980606 chr16:80980595-80980608 chr16:80980595-80980608 chr16:80980597-80980606 chr16:80980595-80980608
35	CEBPB	chr16:81026949-81027309	K562	blood:	n/a	n/a
36	CEBPB	chr16:80971792-80972313	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr16:80982884-80982993	K562	blood:	n/a	n/a
38	CEBPB	chr16:80982773-80983105	K562	blood:	n/a	n/a
39	CEBPB	chr16:81018199-81018439	A549	lung:	n/a	chr16:81018321-81018332
40	CEBPB	chr16:81026896-81027372	K562	blood:	n/a	n/a
41	CEBPB	chr16:81026569-81027334	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr16:81025422-81025793	HepG2	liver:	n/a	n/a
43	CEBPB	chr16:80980416-80980756	HepG2	liver:	n/a	chr16:80980597-80980608 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980595-80980606 chr16:80980595-80980608 chr16:80980595-80980608 chr16:80980597-80980606 chr16:80980595-80980608
44	CEBPB	chr16:80982793-80983217	MCF-7	breast:	n/a	n/a
45	CEBPB	chr16:80982812-80983145	HepG2	liver:	n/a	n/a
46	CEBPB	chr16:80989121-80989327	HepG2	liver:	n/a	n/a
47	CEBPB	chr16:81026931-81027328	IMR90	lung:	n/a	n/a
48	CEBPB	chr16:81026953-81027268	HepG2	liver:	n/a	n/a
49	CEBPB	chr16:80980413-80980777	K562	blood:	n/a	chr16:80980597-80980608 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980597-80980606 chr16:80980595-80980606 chr16:80980595-80980608 chr16:80980595-80980608 chr16:80980597-80980606 chr16:80980595-80980608
50	CEBPB	chr16:81026960-81027302	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:80982506-80982556	HEK293	kidney:	embryo
2	chr16:80982506-80982556	GM06990	blood:	n/a
3	chr16:81020862-81020912	AG09309	skin:	n/a
4	chr16:81020862-81020912	PrEC	prostate:	n/a
5	chr16:81020862-81020912	AG09319	gingival:	n/a
6	chr16:80982506-80982556	NH-A	brain:	n/a
7	chr16:80982506-80982556	HCF	heart:	n/a
8	chr16:81020862-81020912	ProgFib	skin:	n/a
9	chr16:80972238-80972288	GM12891	blood:	n/a
10	chr16:81020862-81020912	GM06990	blood:	n/a
11	chr16:81020862-81020912	AG04450	lung:	fetal
12	chr16:80982506-80982556	GM12878	blood:	n/a
13	chr16:80972238-80972288	GM06990	blood:	n/a
14	chr16:80972238-80972288	Jurkat	blood:	n/a
15	chr16:80982506-80982556	K562	blood:	n/a
16	chr16:81020862-81020912	HEEpiC	esophagus:	n/a
17	chr16:81020862-81020912	SAEC	small airway:	n/a
18	chr16:80972238-80972288	SAEC	small airway:	n/a
19	chr16:81020862-81020912	GM12892	blood:	n/a
20	chr16:81020862-81020912	HIPEpiC	eye:	n/a
21	chr16:81020862-81020912	Caco-2	colon:	n/a
22	chr16:80982506-80982556	AG04449	skin:	fetal
23	chr16:80972238-80972288	CMK	blood:	n/a
24	chr16:81020862-81020912	A549	lung:	n/a
25	chr16:81020862-81020912	Hepatocyte	liver:	n/a
26	chr16:80982506-80982556	PFSK-1	brain:	n/a
27	chr16:80972238-80972288	HCF	heart:	n/a
28	chr16:80982506-80982556	CMK	blood:	n/a
29	chr16:80982506-80982556	NHDF-neo	bronchial:	n/a
30	chr16:80982506-80982556	HCPEpiC	choroid plexus:	n/a
31	chr16:80982506-80982556	AG09319	gingival:	n/a
32	chr16:81020862-81020912	PFSK-1	brain:	n/a
33	chr16:81020862-81020912	RPTEC	kidney:	n/a
34	chr16:80982506-80982556	IMR90	lung:	fetal
35	chr16:80972238-80972288	HCPEpiC	choroid plexus:	n/a
36	chr16:80972238-80972288	Hepatocyte	liver:	n/a
37	chr16:80972238-80972288	PANC-1	pancreas:	n/a
38	chr16:80972238-80972288	PFSK-1	brain:	n/a
39	chr16:81020862-81020912	HCM	heart:	n/a
40	chr16:80972238-80972288	HEEpiC	esophagus:	n/a
41	chr16:80972238-80972288	HRCEpiC	kidney:	n/a
42	chr16:81020862-81020912	HL-60	blood:	n/a
43	chr16:81020862-81020912	GM12891	blood:	n/a
44	chr16:81020862-81020912	ECC-1	luminal epithelium:	n/a
45	chr16:81020862-81020912	AoSMC	blood vessel:	n/a
46	chr16:80982506-80982556	NT2-D1	testis:	n/a
47	chr16:80972238-80972288	NH-A	brain:	n/a
48	chr16:80982506-80982556	SK-N-MC	brain:	n/a
49	chr16:80972238-80972288	H1-hESC	embryonic stem cell:	embryo
50	chr16:80982506-80982556	T-47D	breast:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
2	chr16:81008293..81009087-chr16:81022137..81022800,2	MCF-7	breast:
3	chr16:81009385..81010081-chr16:81069117..81069862,2	MCF-7	breast:
4	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
5	chr16:81009604..81011384-chr16:81022091..81025073,2	K562	blood:
6	chr16:81025909..81029223-chr16:81033494..81036388,3	K562	blood:
7	chr16:81007739..81010251-chr16:81016347..81018529,2	K562	blood:
8	chr16:81006406..81009066-chr16:81012697..81014236,2	K562	blood:
9	chr16:81007590..81009506-chr16:81039765..81041887,2	MCF-7	breast:
10	chr16:81008293..81009087-chr16:81022137..81022800,2	MCF-7	breast:
11	chr16:81006406..81009066-chr16:81012697..81014236,2	K562	blood:
12	chr16:80992891..80995365-chr16:80995391..80997695,2	MCF-7	breast:
13	chr16:81001788..81003366-chr16:81003777..81008120,3	K562	blood:
14	chr16:81010646..81012687-chr16:81017648..81020367,3	K562	blood:
15	chr16:81023188..81026086-chr16:81027867..81032620,4	MCF-7	breast:
16	chr16:81007937..81010698-chr16:81068486..81070530,2	MCF-7	breast:
17	chr16:81025833..81027865-chr16:81069028..81070871,2	K562	blood:
18	chr16:81011048..81013773-chr16:81013873..81016245,3	MCF-7	breast:
19	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
20	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
21	chr16:81021689..81024078-chr16:81024702..81027274,2	MCF-7	breast:
22	chr16:81026654..81030284-chr16:81073967..81077178,3	K562	blood:
23	chr16:81022564..81024564-chr16:81037053..81038818,2	K562	blood:
24	chr16:80560979..80561850-chr16:80982503..80983251,4	MCF-7	breast:
25	chr16:81010646..81012687-chr16:81017648..81020367,3	K562	blood:
26	chr16:81008172..81008838-chr16:89926929..89927458,2	MCF-7	breast:
27	chr16:81016839..81018577-chr16:81026525..81028727,2	MCF-7	breast:
28	chr16:81011048..81013773-chr16:81013873..81016245,3	MCF-7	breast:
29	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
30	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
31	chr16:81015364..81016919-chr16:81018878..81020602,2	K562	blood:
32	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
33	chr16:81019105..81021887-chr16:81039011..81042107,3	MCF-7	breast:
34	chr16:81005749..81007620-chr16:81026993..81029850,2	K562	blood:
35	chr16:81011971..81013927-chr16:81017238..81018745,2	MCF-7	breast:
36	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
37	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
38	chr16:81009884..81011946-chr16:81022091..81024291,2	K562	blood:
39	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
40	chr16:81017079..81020822-chr16:81021056..81026282,6	K562	blood:
41	chr16:81005749..81007620-chr16:81026993..81029850,2	K562	blood:
42	chr16:81009884..81011946-chr16:81022091..81024291,2	K562	blood:
43	chr16:81015364..81016919-chr16:81018878..81020602,2	K562	blood:
44	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
45	chr16:81008331..81009125-chr16:81068545..81069747,6	MCF-7	breast:
46	chr16:81006336..81010251-chr16:81016347..81019319,3	K562	blood:
47	chr16:81011971..81013927-chr16:81017238..81018745,2	MCF-7	breast:
48	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
49	chr16:81009604..81011384-chr16:81022091..81025073,2	K562	blood:
50	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C16orf61-3	chr16:81009699-81010076	NONHSAT143918
2	lnc-C16orf61-3	chr16:81014435-81014484	NONHSAT143925
3	lnc-C16orf61-3	chr16:81015411-81015482	NONHSAT143925
4	lnc-CENPN-1	chr16:81003707-81005460	NONHSAT143915
5	lnc-C16orf61-3	chr16:81009701-81010076	NONHSAT143920
6	lnc-C16orf61-3	chr16:81009701-81010076	NONHSAT143921
7	lnc-C16orf61-3	chr16:81015411-81015482	NONHSAT143921
8	lnc-C16orf61-3	chr16:81014375-81014484	NONHSAT143920
9	lnc-C16orf61-3	chr16:81009701-81010076	NONHSAT143922
10	lnc-C16orf61-3	chr16:81015411-81015482	NONHSAT143918
11	lnc-C16orf61-3	chr16:81025359-81025560	NONHSAT143918

No data

Variant related genes	Relation type
CMC2	TF binding region
CMC2	CpG island
ENSG00000260213	chromatin interactions
ENSG00000259867	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000135930	chromatin interactions
ENSG00000221944	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000168589	chromatin interactions

Extended variants
information (count: 3017 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3017 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8054657	chr16:80972279-80972280	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545863675	chr16:80972280-80972281	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs557923908	chr16:80972287-80972288	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs573068297	chr16:80972288-80972289	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs149540157	chr16:80972348-80972349	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs183792344	chr16:80972368-80972369	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs189149537	chr16:80972413-80972414	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs182554162	chr16:80972430-80972431	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs16954338	chr16:80972440-80972441	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187121759	chr16:80972445-80972446	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs74028870	chr16:80972468-80972469	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191981029	chr16:80972484-80972485	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs74028871	chr16:80972488-80972489	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546751461	chr16:80972502-80972503	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs181605673	chr16:80972511-80972512	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536120309	chr16:80972518-80972519	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs551022383	chr16:80972533-80972534	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs568822215	chr16:80972538-80972539	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs8059375	chr16:80972541-80972542	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs557787528	chr16:80972549-80972550	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs150096756	chr16:80972564-80972565	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs562928718	chr16:80972578-80972579	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs185727886	chr16:80972623-80972624	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs143993423	chr16:80972638-80972639	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs555571571	chr16:80972656-80972657	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148246733	chr16:80972657-80972658	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190136498	chr16:80972660-80972661	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs16954343	chr16:80972680-80972681	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538920715	chr16:80972682-80972683	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573664172	chr16:80972705-80972706	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs141288625	chr16:80972724-80972725	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs147375285	chr16:80972751-80972752	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs182372404	chr16:80972773-80972774	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs56125761	chr16:80972784-80972785	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546713253	chr16:80972791-80972792	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186801859	chr16:80972801-80972802	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145001031	chr16:80972837-80972838	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551249770	chr16:80972874-80972875	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541630668	chr16:80972906-80972907	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569401421	chr16:80972920-80972921	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190725426	chr16:80972962-80972963	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368958649	chr16:80972963-80972964	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184164537	chr16:80972999-80973000	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551359406	chr16:80973000-80973001	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35509784	chr16:80973031-80973032	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566494491	chr16:80973054-80973055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147144757	chr16:80973090-80973091	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs555534796	chr16:80973106-80973107	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112079858	chr16:80973141-80973142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77110521	chr16:80973153-80973154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80970200-80972600	Enhancers	Fetal Stomach	stomach
2	chr16:80970200-80972800	Enhancers	Osteobl	bone
3	chr16:80970400-80972400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:80970400-80972800	Enhancers	Fetal Muscle Leg	muscle
5	chr16:80971000-80972800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr16:80971000-80973200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:80971200-80972400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:80971400-80972400	Enhancers	Colon Smooth Muscle	Colon
9	chr16:80971400-80972400	Enhancers	Stomach Smooth Muscle	stomach
10	chr16:80971400-80972800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr16:80971600-80972400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:80971600-80972400	Enhancers	Adipose Nuclei	Adipose
13	chr16:80971600-80972600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:80971600-80972600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:80971600-80972800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:80971600-80972800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr16:80971600-80972800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:80971600-80972800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:80971600-80972800	Flanking Active TSS	NH-A	brain
20	chr16:80971600-80973000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:80971600-80973000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:80971600-80973200	Flanking Active TSS	HUVEC	blood vessel
23	chr16:80971600-80973200	Flanking Active TSS	NHDF-Ad	bronchial
24	chr16:80971600-80973600	Flanking Active TSS	Hela-S3	cervix
25	chr16:80971800-80972400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr16:80971800-80972400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:80971800-80972400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr16:80971800-80972400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:80971800-80972600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr16:80971800-80972600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:80971800-80972600	Flanking Active TSS	NHEK	skin
32	chr16:80971800-80972800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr16:80971800-80972800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr16:80971800-80972800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr16:80971800-80972800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:80972000-80972400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr16:80972000-80972400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr16:80972000-80972800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:80972000-80972800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:80972000-80972800	Enhancers	Brain Cingulate Gyrus	brain
41	chr16:80972000-80973600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr16:80972200-80972400	Enhancers	Rectal Smooth Muscle	rectum
43	chr16:80972200-80973400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr16:80972200-80973800	Enhancers	HepG2	liver
45	chr16:80972400-80972600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:80972400-80972800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:80972400-80974400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:80972600-80972800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:80972600-80972800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:80972600-80973200	Enhancers	NHEK	skin

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