Variant report

Variant	nsv1061359
Chromosome Location	chr16:81349826-81471867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2104)
CpG islands
(count:735)
Chromatin interactive
region (count:193)
LncRNA
region (count:3)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:2104 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:81465788-81465833	K562	blood:	n/a	n/a
2	ARID3A	chr16:81353190-81353486	K562	blood:	n/a	n/a
3	ARID3A	chr16:81439159-81439828	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:81464730-81465571	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:81399958-81400278	HepG2	liver:	n/a	n/a
6	ARID3A	chr16:81437190-81437502	HepG2	liver:	n/a	n/a
7	ARID3A	chr16:81399951-81400302	K562	blood:	n/a	n/a
8	ARID3A	chr16:81462703-81462929	HepG2	liver:	n/a	n/a
9	ARID3A	chr16:81437170-81437426	K562	blood:	n/a	n/a
10	ARID3A	chr16:81355911-81356025	K562	blood:	n/a	n/a
11	ATF1	chr16:81465599-81465948	K562	blood:	n/a	n/a
12	ATF1	chr16:81353249-81353555	K562	blood:	n/a	n/a
13	ATF1	chr16:81434676-81434887	K562	blood:	n/a	n/a
14	ATF1	chr16:81439338-81439427	K562	blood:	n/a	n/a
15	ATF2	chr16:81458318-81458760	GM12878	blood:	n/a	n/a
16	ATF2	chr16:81464736-81465419	GM12878	blood:	n/a	n/a
17	ATF2	chr16:81464722-81465255	GM12878	blood:	n/a	n/a
18	ATF3	chr16:81434582-81435582	A549	lung:	n/a	n/a
19	ATF3	chr16:81437036-81437584	A549	lung:	n/a	n/a
20	ATF3	chr16:81439130-81439824	A549	lung:	n/a	n/a
21	ATF3	chr16:81434519-81435140	A549	lung:	n/a	n/a
22	ATF3	chr16:81458385-81458601	GM12878	blood:	n/a	n/a
23	ATF3	chr16:81465499-81466108	A549	lung:	n/a	n/a
24	ATF3	chr16:81355149-81355532	K562	blood:	n/a	n/a
25	ATF3	chr16:81439014-81439847	A549	lung:	n/a	n/a
26	BACH1	chr16:81439331-81439723	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr16:81446939-81447240	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr16:81437222-81437506	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr16:81353212-81353469	K562	blood:	n/a	n/a
30	BATF	chr16:81464801-81465201	GM12878	blood:	n/a	chr16:81465003-81465013
31	BATF	chr16:81369199-81369654	GM12878	blood:	n/a	chr16:81369384-81369395
32	BATF	chr16:81458398-81458676	GM12878	blood:	n/a	n/a
33	BATF	chr16:81458405-81458781	GM12878	blood:	n/a	n/a
34	BATF	chr16:81470021-81470325	GM12878	blood:	n/a	n/a
35	BATF	chr16:81464737-81465416	GM12878	blood:	n/a	chr16:81465003-81465013
36	BATF	chr16:81404811-81404978	GM12878	blood:	n/a	chr16:81404893-81404904
37	BCL11A	chr16:81458412-81458692	GM12878	blood:	n/a	chr16:81458573-81458582 chr16:81458657-81458666 chr16:81458555-81458564
38	BCL11A	chr16:81464778-81465315	GM12878	blood:	n/a	chr16:81465005-81465014
39	BCL11A	chr16:81464789-81465415	GM12878	blood:	n/a	chr16:81465005-81465014
40	BCL3	chr16:81465473-81466199	A549	lung:	n/a	n/a
41	BCL3	chr16:81434456-81435392	A549	lung:	n/a	n/a
42	BCL3	chr16:81425399-81425669	GM12878	blood:	n/a	n/a
43	BCL3	chr16:81434458-81435456	A549	lung:	n/a	n/a
44	BCL3	chr16:81437037-81437605	A549	lung:	n/a	n/a
45	BCL3	chr16:81439064-81439846	A549	lung:	n/a	chr16:81439275-81439282
46	BCL3	chr16:81464816-81465152	GM12878	blood:	n/a	chr16:81465005-81465014
47	BCL3	chr16:81438943-81439948	A549	lung:	n/a	chr16:81439275-81439282
48	BCL3	chr16:81424396-81424751	GM12878	blood:	n/a	n/a
49	BCL3	chr16:81462655-81463088	A549	lung:	n/a	n/a
50	BCLAF1	chr16:81464788-81465389	GM12878	blood:	n/a	chr16:81465005-81465014

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81437124-81437174	Jurkat	blood:	n/a
2	chr16:81437709-81437759	SK-N-SH_RA	brain:	n/a
3	chr16:81437216-81437266	NH-A	brain:	n/a
4	chr16:81437124-81437174	Jurkat	blood:	n/a
5	chr16:81437709-81437759	SK-N-SH_RA	brain:	n/a
6	chr16:81437216-81437266	NH-A	brain:	n/a
7	chr16:81439588-81439638	AG04450	lung:	fetal
8	chr16:81437124-81437174	SK-N-SH	brain:	n/a
9	chr16:81450558-81450608	GM12878	blood:	n/a
10	chr16:81450558-81450608	HRCEpiC	kidney:	n/a
11	chr16:81349954-81350004	HUVEC	blood vessel:	n/a
12	chr16:81450558-81450608	GM12892	blood:	n/a
13	chr16:81357985-81358035	U87	brain:	n/a
14	chr16:81439588-81439638	HUVEC	blood vessel:	n/a
15	chr16:81450558-81450608	HNPCEpiC	eye:	n/a
16	chr16:81465426-81465476	AG04449	skin:	fetal
17	chr16:81437496-81437546	NH-A	brain:	n/a
18	chr16:81434930-81434980	ECC-1	luminal epithelium:	n/a
19	chr16:81357985-81358035	CMK	blood:	n/a
20	chr16:81437216-81437266	NB4	blood:	n/a
21	chr16:81437496-81437546	LNCaP	prostate:	n/a
22	chr16:81364200-81364250	HCT-116	colon:	n/a
23	chr16:81349954-81350004	Caco-2	colon:	n/a
24	chr16:81465426-81465476	HAEpiC	amniotic membrane:	n/a
25	chr16:81353400-81353450	AG04449	skin:	fetal
26	chr16:81439588-81439638	HRCEpiC	kidney:	n/a
27	chr16:81437709-81437759	LNCaP	prostate:	n/a
28	chr16:81437496-81437546	SK-N-MC	brain:	n/a
29	chr16:81437496-81437546	RPTEC	kidney:	n/a
30	chr16:81439588-81439638	HCT-116	colon:	n/a
31	chr16:81437709-81437759	BE2_C	brain:	n/a
32	chr16:81439588-81439638	GM12891	blood:	n/a
33	chr16:81437709-81437759	SK-N-MC	brain:	n/a
34	chr16:81439588-81439638	BJ	skin:	n/a
35	chr16:81437216-81437266	BJ	skin:	n/a
36	chr16:81439588-81439638	AoSMC	blood vessel:	n/a
37	chr16:81357985-81358035	GM12878	blood:	n/a
38	chr16:81349954-81350004	ovcar-3	ovarian:	n/a
39	chr16:81450558-81450608	RPTEC	kidney:	n/a
40	chr16:81357985-81358035	AG04450	lung:	fetal
41	chr16:81450558-81450608	GM12891	blood:	n/a
42	chr16:81465426-81465476	Hepatocyte	liver:	n/a
43	chr16:81437709-81437759	AG04450	lung:	fetal
44	chr16:81437709-81437759	RPTEC	kidney:	n/a
45	chr16:81437496-81437546	Hela-S3	cervix:	n/a
46	chr16:81437124-81437174	GM06990	blood:	n/a
47	chr16:81364200-81364250	PrEC	prostate:	n/a
48	chr16:81450558-81450608	GM06990	blood:	n/a
49	chr16:81437124-81437174	AoSMC	blood vessel:	n/a
50	chr16:81437216-81437266	RPTEC	kidney:	n/a

(count:193 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr16:81299078..81302061-chr16:81436306..81439143,2	MCF-7	breast:
2	chr16:81456230..81458519-chr16:81478513..81480635,2	K562	blood:
3	chr16:81402764..81405493-chr16:81409051..81411986,2	K562	blood:
4	chr16:81353747..81356742-chr7:139875388..139877334,2	MCF-7	breast:
5	chr16:81409476..81411284-chr16:81422287..81424681,2	MCF-7	breast:
6	chr16:81399727..81400409-chr16:81437226..81437815,2	MCF-7	breast:
7	chr16:81380592..81382796-chr16:81403819..81406322,2	K562	blood:
8	chr16:81389850..81392744-chr16:81404140..81407123,3	K562	blood:
9	chr16:81411383..81414632-chr16:81425808..81428318,4	MCF-7	breast:
10	chr16:81384947..81387617-chr16:81411669..81414559,2	K562	blood:
11	chr16:81344166..81347123-chr16:81377897..81380361,2	MCF-7	breast:
12	chr16:81382053..81384349-chr16:81385028..81387799,2	MCF-7	breast:
13	chr16:81307461..81311487-chr16:81391240..81393766,3	MCF-7	breast:
14	chr16:81437532..81439283-chr16:81753997..81755873,2	MCF-7	breast:
15	chr16:81422372..81424000-chr16:81428464..81431283,2	MCF-7	breast:
16	chr16:81358702..81362075-chr16:81365943..81367712,3	K562	blood:
17	chr16:81318119..81320735-chr16:81351761..81354471,2	MCF-7	breast:
18	chr16:81411383..81414632-chr16:81425808..81428318,4	MCF-7	breast:
19	chr16:81068493..81070605-chr16:81379712..81382493,2	MCF-7	breast:
20	chr16:81427513..81429948-chr16:81435668..81437409,2	K562	blood:
21	chr16:81436877..81437744-chr16:81756436..81757351,2	MCF-7	breast:
22	chr16:81296710..81297703-chr16:81399610..81400759,4	MCF-7	breast:
23	chr16:81383148..81385545-chr16:81392228..81393916,3	MCF-7	breast:
24	chr16:81398977..81401666-chr16:81406634..81409921,3	MCF-7	breast:
25	chr16:81355446..81358020-chr16:81366179..81367886,2	K562	blood:
26	chr16:81382053..81384349-chr16:81385028..81387799,2	MCF-7	breast:
27	chr16:81347950..81350114-chr16:81397372..81401433,3	MCF-7	breast:
28	chr16:81434998..81437971-chr16:81482154..81484687,2	K562	blood:
29	chr16:81436903..81437571-chr16:81730620..81731331,2	MCF-7	breast:
30	chr16:81380592..81382796-chr16:81403819..81406322,2	K562	blood:
31	chr16:81247005..81248627-chr16:81352449..81354700,2	MCF-7	breast:
32	chr16:81399642..81400599-chr16:81771271..81772233,7	K562	blood:
33	chr16:81388209..81391799-chr16:81392393..81395438,3	MCF-7	breast:
34	chr16:81368268..81371015-chr16:81379390..81381127,2	K562	blood:
35	chr16:81294426..81295369-chr16:81399868..81400402,2	MCF-7	breast:
36	chr16:81452827..81454808-chr16:81460836..81463803,3	K562	blood:
37	chr16:81399492..81401511-chr16:81421134..81423707,2	K562	blood:
38	chr16:81346603..81348772-chr16:81366929..81370865,3	K562	blood:
39	chr16:81308065..81311392-chr16:81404971..81409467,4	MCF-7	breast:
40	chr16:81431237..81433248-chr16:81694518..81697342,2	MCF-7	breast:
41	chr16:81368268..81371015-chr16:81379390..81381127,2	K562	blood:
42	chr16:81445985..81448326-chr16:81458796..81461179,2	K562	blood:
43	chr16:81040427..81042775-chr16:81356563..81358580,2	MCF-7	breast:
44	chr16:81436982..81437810-chr16:81765940..81766679,2	MCF-7	breast:
45	chr16:81434653..81436470-chr16:81555326..81557688,2	MCF-7	breast:
46	chr16:81465030..81467170-chr16:81468085..81470508,3	K562	blood:
47	chr16:81380543..81383435-chr16:81390394..81393830,4	K562	blood:
48	chr16:81353821..81355333-chr6:170150533..170152454,2	MCF-7	breast:
49	chr16:81347335..81348972-chr16:81380044..81382271,2	MCF-7	breast:
50	chr16:81437241..81437756-chr16:81907474..81908022,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAN-1	chr16:81417177-81417911	NONHSAT143945
2	lnc-GAN-1	chr16:81422143-81423143	NONHSAT143945
3	lnc-GAN-1	chr16:81421430-81424413	NONHSAT143948

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4720-3p	chr16:81418668-81418688	MIMAT0019834
hsa-miR-4720-5p	chr16:81418626-81418647	MIMAT0019833

No data

Variant related genes	Relation type
GAN	TF binding region
ENSG00000260495	TF binding region
ENSG00000272923	TF binding region
MIR4720	TF binding region
GAN	CpG island
ENSG00000260495	CpG island
ENSG00000272923	CpG island
MIR4720	CpG island
ENSG00000103121	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000261218	chromatin interactions
ENSG00000006459	chromatin interactions
ENSG00000273048	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000197943	chromatin interactions
ENSG00000153815	chromatin interactions
ENSG00000184786	chromatin interactions
ENSG00000260495	chromatin interactions
ENSG00000260231	chromatin interactions
ENSG00000261609	chromatin interactions
ENSG00000272923	chromatin interactions
ENSG00000166455	chromatin interactions
ENSG00000245059	chromatin interactions
ENSG00000130023	chromatin interactions
ENSG00000166451	chromatin interactions

Extended variants
information (count: 7051 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:7051 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116521688	chr16:81349908-81349909	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs191909897	chr16:81349934-81349935	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs184160023	chr16:81349935-81349936	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs545887530	chr16:81349944-81349945	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs572943711	chr16:81349951-81349952	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs77893364	chr16:81349961-81349962	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs75914288	chr16:81349962-81349963	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs398078787	chr16:81349964-81349965	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs398030016	chr16:81349965-81349966	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs113497250	chr16:81349976-81349977	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs141330742	chr16:81349987-81349988	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs180804186	chr16:81350013-81350014	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568708251	chr16:81350055-81350056	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs116535880	chr16:81350076-81350077	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs575170684	chr16:81350096-81350097	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs569453712	chr16:81350183-81350184	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540086186	chr16:81350197-81350198	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557879478	chr16:81350212-81350213	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367879534	chr16:81350241-81350242	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566456363	chr16:81350243-81350244	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533737916	chr16:81350251-81350252	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs150382970	chr16:81350265-81350266	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79703776	chr16:81350272-81350273	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367818140	chr16:81350275-81350276	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78574421	chr16:81350276-81350277	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535080148	chr16:81350284-81350285	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577004776	chr16:81350286-81350287	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138031437	chr16:81350291-81350292	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544810983	chr16:81350300-81350301	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185819393	chr16:81350309-81350310	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528599260	chr16:81350347-81350348	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116965831	chr16:81350354-81350355	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561919565	chr16:81350363-81350364	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373482016	chr16:81350364-81350365	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528538894	chr16:81350385-81350386	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76645023	chr16:81350399-81350400	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145955877	chr16:81350409-81350410	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6564866	chr16:81350441-81350442	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139877904	chr16:81350452-81350453	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568380026	chr16:81350474-81350475	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566537280	chr16:81350509-81350510	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs117942624	chr16:81350524-81350525	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549086547	chr16:81350589-81350590	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6564867	chr16:81350607-81350608	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537486599	chr16:81350654-81350655	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201998682	chr16:81350672-81350673	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555999408	chr16:81350705-81350706	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577517478	chr16:81350706-81350707	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577449185	chr16:81350707-81350708	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553699661	chr16:81350752-81350753	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3156 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81346800-81350200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:81347000-81350000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr16:81347000-81350000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:81347000-81350200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:81347200-81350000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr16:81347200-81350400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:81347400-81350000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:81347800-81350200	Active TSS	Right Atrium	heart
9	chr16:81347800-81350200	Active TSS	Right Ventricle	heart
10	chr16:81348000-81350000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:81348000-81350000	Active TSS	Brain Substantia Nigra	brain
12	chr16:81348000-81350000	Active TSS	Colon Smooth Muscle	Colon
13	chr16:81348000-81350000	Active TSS	Fetal Intestine Large	intestine
14	chr16:81348000-81350000	Active TSS	HSMMtube	muscle
15	chr16:81348000-81350200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:81348000-81350200	Active TSS	HMEC	breast
17	chr16:81348200-81351800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr16:81349000-81350000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:81349000-81350000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr16:81349200-81350000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:81349200-81350000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:81349400-81350000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr16:81349400-81350000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr16:81349400-81350000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr16:81349400-81350000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr16:81349400-81350000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr16:81349400-81350000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr16:81349400-81350000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr16:81349400-81350000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:81349400-81350000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:81349400-81350000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr16:81349400-81350000	Flanking Active TSS	Liver	Liver
33	chr16:81349400-81350000	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr16:81349400-81350000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr16:81349400-81350000	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr16:81349400-81350000	Flanking Active TSS	Fetal Brain Male	brain
37	chr16:81349400-81350000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr16:81349400-81350000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr16:81349400-81350000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr16:81349400-81350000	Flanking Active TSS	Hela-S3	cervix
41	chr16:81349400-81350000	Flanking Active TSS	HUVEC	blood vessel
42	chr16:81349400-81350000	Flanking Active TSS	K562	blood
43	chr16:81349400-81350000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr16:81349400-81350000	Flanking Active TSS	NH-A	brain
45	chr16:81349400-81350000	Flanking Active TSS	Osteobl	bone
46	chr16:81349400-81350200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:81349400-81350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr16:81349400-81350400	Flanking Active TSS	Dnd41	blood
49	chr16:81349600-81350000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr16:81349600-81350000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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