Variant report

Variant	nsv469831
Chromosome Location	chr3:196071603-196235225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3021)
CpG islands
(count:2200)
Chromatin interactive
region (count:184)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3021 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:196074051-196074658	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:196157987-196158455	K562	blood:	n/a	n/a
3	ARID3A	chr3:196230433-196230722	K562	blood:	n/a	chr3:196230659-196230667
4	ARID3A	chr3:196170907-196171291	K562	blood:	n/a	n/a
5	ARID3A	chr3:196105180-196105538	K562	blood:	n/a	n/a
6	ARID3A	chr3:196229060-196229225	K562	blood:	n/a	n/a
7	ARID3A	chr3:196159223-196159917	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:196158041-196158234	HepG2	liver:	n/a	n/a
9	ARID3A	chr3:196227976-196227988	K562	blood:	n/a	n/a
10	ARID3A	chr3:196230524-196230704	HepG2	liver:	n/a	chr3:196230659-196230667
11	ATF1	chr3:196230385-196230823	K562	blood:	n/a	n/a
12	ATF1	chr3:196112933-196113242	K562	blood:	n/a	n/a
13	ATF1	chr3:196105419-196105644	K562	blood:	n/a	n/a
14	ATF1	chr3:196223094-196223448	K562	blood:	n/a	n/a
15	ATF1	chr3:196095371-196095414	K562	blood:	n/a	n/a
16	ATF2	chr3:196229497-196230039	GM12878	blood:	n/a	n/a
17	ATF2	chr3:196226571-196227157	GM12878	blood:	n/a	n/a
18	ATF2	chr3:196159290-196159854	GM12878	blood:	n/a	n/a
19	ATF2	chr3:196159393-196159853	GM12878	blood:	n/a	n/a
20	ATF2	chr3:196184380-196184901	GM12878	blood:	n/a	n/a
21	ATF2	chr3:196166607-196168846	GM12878	blood:	n/a	n/a
22	ATF2	chr3:196189170-196190145	GM12878	blood:	n/a	n/a
23	ATF2	chr3:196229432-196229952	GM12878	blood:	n/a	n/a
24	ATF2	chr3:196227883-196228763	GM12878	blood:	n/a	n/a
25	ATF2	chr3:196190257-196191183	GM12878	blood:	n/a	n/a
26	ATF2	chr3:196230178-196230939	GM12878	blood:	n/a	n/a
27	ATF2	chr3:196226576-196227407	GM12878	blood:	n/a	n/a
28	ATF2	chr3:196190274-196190947	GM12878	blood:	n/a	n/a
29	ATF2	chr3:196166688-196168038	GM12878	blood:	n/a	n/a
30	ATF2	chr3:196230392-196231002	GM12878	blood:	n/a	n/a
31	ATF2	chr3:196168082-196168769	GM12878	blood:	n/a	n/a
32	ATF2	chr3:196189203-196190161	GM12878	blood:	n/a	n/a
33	ATF3	chr3:196230341-196230837	K562	blood:	n/a	chr3:196230644-196230664
34	ATF3	chr3:196223183-196223306	K562	blood:	n/a	n/a
35	BACH1	chr3:196229556-196230107	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr3:196159025-196159588	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr3:196230432-196230747	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr3:196170898-196171141	K562	blood:	n/a	n/a
39	BACH1	chr3:196229537-196229869	K562	blood:	n/a	n/a
40	BACH1	chr3:196228908-196229056	H1-hESC	embryonic stem cell:	n/a	n/a
41	BATF	chr3:196197280-196197606	GM12878	blood:	n/a	n/a
42	BATF	chr3:196166824-196167510	GM12878	blood:	n/a	n/a
43	BATF	chr3:196226712-196226992	GM12878	blood:	n/a	n/a
44	BATF	chr3:196168230-196168824	GM12878	blood:	n/a	n/a
45	BATF	chr3:196196918-196197247	GM12878	blood:	n/a	n/a
46	BATF	chr3:196230399-196230687	GM12878	blood:	n/a	n/a
47	BATF	chr3:196188679-196189012	GM12878	blood:	n/a	n/a
48	BATF	chr3:196189748-196190297	GM12878	blood:	n/a	n/a
49	BATF	chr3:196168336-196168728	GM12878	blood:	n/a	n/a
50	BATF	chr3:196189700-196190403	GM12878	blood:	n/a	n/a

(count:2200 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:196159443-196159493	AG04449	skin:	fetal
2	chr3:196134040-196134090	PFSK-1	brain:	n/a
3	chr3:196229769-196229819	Jurkat	blood:	n/a
4	chr3:196230661-196230711	AoSMC	blood vessel:	n/a
5	chr3:196159443-196159493	AG04449	skin:	fetal
6	chr3:196134040-196134090	PFSK-1	brain:	n/a
7	chr3:196229769-196229819	Jurkat	blood:	n/a
8	chr3:196230661-196230711	AoSMC	blood vessel:	n/a
9	chr3:196218811-196218861	Hela-S3	cervix:	n/a
10	chr3:196158458-196158508	SK-N-MC	brain:	n/a
11	chr3:196230026-196230076	HPAEpiC	pulmonary alveolar:	n/a
12	chr3:196159430-196159480	ProgFib	skin:	n/a
13	chr3:196112441-196112491	GM12878	blood:	n/a
14	chr3:196232072-196232122	NH-A	brain:	n/a
15	chr3:196154735-196154785	AG09319	gingival:	n/a
16	chr3:196163167-196163217	A549	lung:	n/a
17	chr3:196230449-196230499	SK-N-MC	brain:	n/a
18	chr3:196229769-196229819	AG09309	skin:	n/a
19	chr3:196154735-196154785	NT2-D1	testis:	n/a
20	chr3:196218787-196218837	HRPEpiC	eye:	n/a
21	chr3:196159430-196159480	HCM	heart:	n/a
22	chr3:196159589-196159639	GM12878	blood:	n/a
23	chr3:196157488-196157538	AoSMC	blood vessel:	n/a
24	chr3:196159443-196159493	HL-60	blood:	n/a
25	chr3:196154735-196154785	HCPEpiC	choroid plexus:	n/a
26	chr3:196218787-196218837	HCF	heart:	n/a
27	chr3:196159428-196159478	CMK	blood:	n/a
28	chr3:196158604-196158654	HUVEC	blood vessel:	n/a
29	chr3:196160269-196160319	NHDF-neo	bronchial:	n/a
30	chr3:196163167-196163217	HMEC	breast:	n/a
31	chr3:196230779-196230829	T-47D	breast:	n/a
32	chr3:196158604-196158654	MCF10A-Er-Src	breast:	n/a
33	chr3:196230639-196230689	GM19239	blood:	n/a
34	chr3:196159244-196159294	NH-A	brain:	n/a
35	chr3:196112441-196112491	HIPEpiC	eye:	n/a
36	chr3:196082185-196082235	GM12891	blood:	n/a
37	chr3:196230639-196230689	GM12878	blood:	n/a
38	chr3:196158975-196159025	AG10803	skin:	n/a
39	chr3:196159589-196159639	AG04449	skin:	fetal
40	chr3:196159654-196159704	MCF10A-Er-Src	breast:	n/a
41	chr3:196159430-196159480	NHDF-neo	bronchial:	n/a
42	chr3:196230661-196230711	H1-hESC	embryonic stem cell:	embryo
43	chr3:196231404-196231454	T-47D	breast:	n/a
44	chr3:196218811-196218861	HNPCEpiC	eye:	n/a
45	chr3:196158604-196158654	HCT-116	colon:	n/a
46	chr3:196112441-196112491	LNCaP	prostate:	n/a
47	chr3:196229583-196229633	MCF-7	breast:	n/a
48	chr3:196227453-196227503	HRCEpiC	kidney:	n/a
49	chr3:196230308-196230358	LNCaP	prostate:	n/a
50	chr3:196230026-196230076	HCPEpiC	choroid plexus:	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:196075208..196077147-chr3:196092835..196095668,2	MCF-7	breast:
2	chr3:196068603..196070479-chr3:196087744..196090731,2	K562	blood:
3	chr3:196050354..196051997-chr3:196069518..196071791,2	MCF-7	breast:
4	chr3:196078799..196081788-chr3:196092025..196095226,4	K562	blood:
5	chr3:196158147..196160918-chr3:196228046..196230490,2	K562	blood:
6	chr3:196194808..196197230-chr3:196197915..196199968,2	K562	blood:
7	chr3:196197868..196200797-chr3:196203999..196206906,2	K562	blood:
8	chr3:196068585..196071026-chr3:196125432..196127097,2	MCF-7	breast:
9	chr3:196070139..196072879-chr3:196076090..196077663,2	K562	blood:
10	chr3:196081918..196083846-chr3:196086932..196089024,2	MCF-7	breast:
11	chr3:196130460..196132827-chr3:196143494..196145244,2	K562	blood:
12	chr3:196142039..196143861-chr3:196152128..196153766,2	K562	blood:
13	chr3:196228351..196232071-chr3:196294107..196297178,4	MCF-7	breast:
14	chr3:196200904..196203106-chr3:196242169..196245085,2	K562	blood:
15	chr1:45187028..45187583-chr3:196230020..196230593,2	Hela-S3	cervix:
16	chr3:196156342..196159977-chr3:196227568..196231019,3	MCF-7	breast:
17	chr3:196070139..196072879-chr3:196076090..196077663,2	K562	blood:
18	chr3:196133998..196136496-chr3:196146393..196149316,3	K562	blood:
19	chr3:196065505..196067615-chr3:196082041..196085251,3	K562	blood:
20	chr3:196230201..196232856-chr3:196233459..196236729,6	K562	blood:
21	chr3:196100863..196102886-chr3:196104953..196107824,2	K562	blood:
22	chr3:196013817..196016385-chr3:196199052..196201409,2	MCF-7	breast:
23	chr3:196062135..196067019-chr3:196076390..196080576,5	K562	blood:
24	chr3:196091299..196094220-chr3:196098056..196100993,2	K562	blood:
25	chr3:196202903..196205683-chr3:196207751..196209583,2	K562	blood:
26	chr3:196063941..196066485-chr3:196094472..196097305,2	K562	blood:
27	chr3:196194808..196197230-chr3:196197915..196199968,2	K562	blood:
28	chr3:196133565..196136496-chr3:196147816..196149454,2	K562	blood:
29	chr3:196150524..196154705-chr3:196157628..196161490,4	K562	blood:
30	chr3:196007615..196009378-chr3:196070070..196071650,2	MCF-7	breast:
31	chr3:196215382..196218284-chr3:196226840..196230501,3	K562	blood:
32	chr3:196215210..196217235-chr3:196222277..196224657,2	K562	blood:
33	chr3:196192358..196194279-chr3:196199089..196201491,2	K562	blood:
34	chr3:196014550..196016725-chr3:196229110..196232092,4	K562	blood:
35	chr3:196217384..196220368-chr3:196221757..196224156,3	K562	blood:
36	chr3:196062778..196068235-chr3:196157235..196160927,9	K562	blood:
37	chr3:196221498..196224147-chr3:196224892..196227326,3	K562	blood:
38	chr3:196064683..196067033-chr3:196229952..196232006,2	K562	blood:
39	chr3:196228123..196230544-chr3:196269103..196271110,2	MCF-7	breast:
40	chr16:4526518..4527018-chr3:196105176..196106110,2	Hela-S3	cervix:
41	chr3:196136134..196138094-chr3:196139731..196142693,2	MCF-7	breast:
42	chr3:196087051..196089707-chr3:196092775..196094458,2	K562	blood:
43	chr1:16840299..16840986-chr3:196230102..196230663,2	Hela-S3	cervix:
44	chr3:196090944..196093286-chr3:196094275..196096504,2	K562	blood:
45	chr3:196228328..196231500-chr3:196241253..196244010,3	MCF-7	breast:
46	chr3:196087051..196089707-chr3:196092775..196094458,2	K562	blood:
47	chr3:196103840..196105428-chr3:196134331..196136601,2	K562	blood:
48	chr3:196119980..196121933-chr3:196124713..196127635,2	K562	blood:
49	chr3:196071912..196074086-chr3:196075769..196077797,2	MCF-7	breast:
50	chr3:196078088..196079673-chr3:196083665..196086587,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TM4SF19-1	chr3:196124382-196124649	NONHSAT094331
2	lnc-FBXO45-5	chr3:196176730-196179318	NONHSAT094339
3	lnc-FBXO45-3	chr3:196201672-196202265	ENSG00000273013.1
4	lnc-C3orf43-2	chr3:196197171-196197773	NONHSAT094343
5	lnc-C3orf43-2	chr3:196195811-196197084	NONHSAT094343
6	lnc-C3orf43-2	chr3:196195811-196197773	NONHSAT094344
7	lnc-FBXO45-2	chr3:196159073-196159401	ENSG00000225822.2
8	lnc-FBXO45-4	chr3:196196865-196197996	NONHSAT094341
9	lnc-FBXO45-2	chr3:196158256-196158312	ENSG00000225822.2
10	lnc-FBXO45-2	chr3:196158235-196160242	ENSG00000225822.3
11	lnc-FBXO45-7	chr3:196150193-196150393	NONHSAT094335
12	lnc-FBXO45-4	chr3:196181233-196181272	NONHSAT094341
13	lnc-FBXO45-6	chr3:196172625-196173629	NONHSAT094338
14	lnc-AC069257.9.1-11	chr3:196126782-196127077	NONHSAT094332

No data

Variant related genes	Relation type
ENSG00000273013	TF binding region
RNU6-910P	TF binding region
RN7SL434P	TF binding region
RN7SL738P	TF binding region
ENSG00000225240	TF binding region
ENSG00000226345	TF binding region
RNF168	TF binding region
UBXN7	TF binding region
UBXN7-AS1	TF binding region
RNU6-1279P	TF binding region
ENSG00000273013	CpG island
RNU6-910P	CpG island
RN7SL434P	CpG island
RN7SL738P	CpG island
ENSG00000225240	CpG island
ENSG00000226345	CpG island
RNF168	CpG island
UBXN7	CpG island
UBXN7-AS1	CpG island
RNU6-1279P	CpG island
ENSG00000199377	chromatin interactions
ENSG00000214097	chromatin interactions
ENSG00000163959	chromatin interactions
ENSG00000243339	chromatin interactions
ENSG00000212146	chromatin interactions
ENSG00000185798	chromatin interactions
ENSG00000213358	chromatin interactions
ENSG00000163960	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000104897	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000174013	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000241868	chromatin interactions
ENSG00000137880	chromatin interactions
ENSG00000235897	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000104886	chromatin interactions
ENSG00000206644	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000225822	chromatin interactions
ENSG00000226345	chromatin interactions
ENSG00000273331	chromatin interactions
ENSG00000145107	chromatin interactions
ENSG00000163961	chromatin interactions

Extended variants
information (count: 6959 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:6959 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74855652	chr3:196071646-196071647	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs74628903	chr3:196071655-196071656	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs141252736	chr3:196071664-196071665	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs577801670	chr3:196071721-196071722	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs143487224	chr3:196071733-196071734	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs539768648	chr3:196071766-196071767	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs540893562	chr3:196071782-196071783	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs540358105	chr3:196071790-196071791	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs577886731	chr3:196071808-196071809	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs35385779	chr3:196071832-196071833	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148149924	chr3:196071893-196071894	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs530580722	chr3:196071996-196071997	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs141941682	chr3:196072011-196072012	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs184638054	chr3:196072014-196072015	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs568677444	chr3:196072024-196072025	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs373926046	chr3:196072027-196072028	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs112237343	chr3:196072035-196072036	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs201100529	chr3:196072067-196072068	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs143871662	chr3:196072073-196072074	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs368991587	chr3:196072081-196072082	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs528107474	chr3:196072126-196072127	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs36023444	chr3:196072129-196072130	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs546311522	chr3:196072138-196072139	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs552694123	chr3:196072159-196072160	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs115195215	chr3:196072169-196072170	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs150284014	chr3:196072171-196072172	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs76413728	chr3:196072182-196072183	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs189152466	chr3:196072184-196072185	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs536319833	chr3:196072192-196072193	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs554660225	chr3:196072196-196072197	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs573036013	chr3:196072222-196072223	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs146849182	chr3:196072225-196072226	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs560213188	chr3:196072245-196072246	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs534177336	chr3:196072284-196072285	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs558727372	chr3:196072286-196072287	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs139018942	chr3:196072332-196072333	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs541457494	chr3:196072361-196072362	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs544983220	chr3:196072400-196072401	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs372580771	chr3:196072410-196072411	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs142209050	chr3:196072412-196072413	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs4916490	chr3:196072442-196072443	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542708350	chr3:196072467-196072468	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs560946880	chr3:196072475-196072476	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs528222019	chr3:196072476-196072477	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs146308649	chr3:196072484-196072485	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs376391771	chr3:196072511-196072512	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs532797092	chr3:196072523-196072524	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs537596100	chr3:196072532-196072533	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs551012438	chr3:196072549-196072550	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs569075547	chr3:196072559-196072560	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4891 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:196062800-196075000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:196065400-196071800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:196065600-196074200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:196065600-196074200	Weak transcription	HSMM	muscle
6	chr3:196065600-196075200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:196065600-196080800	Weak transcription	HSMMtube	muscle
8	chr3:196065600-196082400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:196065600-196082600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:196065600-196084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:196066200-196081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:196067000-196075400	Weak transcription	Placenta	Placenta
13	chr3:196067200-196072000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:196067200-196074800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:196067400-196074800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:196067600-196073600	Weak transcription	A549	lung
17	chr3:196067600-196074800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:196068000-196079000	Weak transcription	Fetal Intestine Small	intestine
19	chr3:196068000-196080800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:196068400-196072400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:196068400-196072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:196068400-196074800	Weak transcription	Hela-S3	cervix
23	chr3:196068400-196075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:196068400-196075200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:196068400-196075800	Weak transcription	NH-A	brain
26	chr3:196068600-196076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:196068600-196077600	Weak transcription	Osteobl	bone
28	chr3:196068600-196080800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:196068600-196081000	Weak transcription	NHDF-Ad	bronchial
30	chr3:196069600-196072200	Weak transcription	Fetal Stomach	stomach
31	chr3:196070000-196074800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:196070000-196080600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:196070200-196075200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:196070400-196072400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:196070400-196072400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:196070400-196072400	Weak transcription	Lung	lung
37	chr3:196070400-196074000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:196070400-196074200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:196070400-196074200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:196070400-196074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:196070400-196076000	Weak transcription	Esophagus	oesophagus
42	chr3:196070400-196082200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:196070400-196082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:196070400-196082400	Weak transcription	HMEC	breast
45	chr3:196070600-196072400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:196070600-196072400	Weak transcription	Fetal Brain Female	brain
47	chr3:196070600-196082600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:196070800-196072400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:196070800-196073000	Enhancers	Primary monocytes fromperipheralblood	blood

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