Variant report

Variant	nsv878183
Chromosome Location	chr3:196072442-196181228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1335)
CpG islands
(count:1101)
Chromatin interactive
region (count:119)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1335 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:196105180-196105538	K562	blood:	n/a	n/a
2	ARID3A	chr3:196157987-196158455	K562	blood:	n/a	n/a
3	ARID3A	chr3:196170907-196171291	K562	blood:	n/a	n/a
4	ARID3A	chr3:196074051-196074658	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:196159223-196159917	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:196158041-196158234	HepG2	liver:	n/a	n/a
7	ATF1	chr3:196105419-196105644	K562	blood:	n/a	n/a
8	ATF1	chr3:196095371-196095414	K562	blood:	n/a	n/a
9	ATF1	chr3:196112933-196113242	K562	blood:	n/a	n/a
10	ATF2	chr3:196168082-196168769	GM12878	blood:	n/a	n/a
11	ATF2	chr3:196159393-196159853	GM12878	blood:	n/a	n/a
12	ATF2	chr3:196166607-196168846	GM12878	blood:	n/a	n/a
13	ATF2	chr3:196159290-196159854	GM12878	blood:	n/a	n/a
14	ATF2	chr3:196166688-196168038	GM12878	blood:	n/a	n/a
15	BACH1	chr3:196170898-196171141	K562	blood:	n/a	n/a
16	BACH1	chr3:196159025-196159588	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr3:196166848-196167223	GM12878	blood:	n/a	n/a
18	BATF	chr3:196168336-196168728	GM12878	blood:	n/a	n/a
19	BATF	chr3:196166824-196167510	GM12878	blood:	n/a	n/a
20	BATF	chr3:196139593-196139989	GM12878	blood:	n/a	n/a
21	BATF	chr3:196168230-196168824	GM12878	blood:	n/a	n/a
22	BCL11A	chr3:196166935-196167211	GM12878	blood:	n/a	n/a
23	BCL11A	chr3:196166782-196167317	GM12878	blood:	n/a	n/a
24	BCL11A	chr3:196139587-196139995	GM12878	blood:	n/a	n/a
25	BCL11A	chr3:196105922-196106169	GM12878	blood:	n/a	n/a
26	BCL11A	chr3:196139661-196139935	GM12878	blood:	n/a	n/a
27	BCL11A	chr3:196102418-196102666	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL3	chr3:196168267-196168737	GM12878	blood:	n/a	n/a
29	BCL3	chr3:196166810-196167422	GM12878	blood:	n/a	chr3:196167359-196167368
30	BCL3	chr3:196166685-196167924	GM12878	blood:	n/a	chr3:196167359-196167368
31	BCL3	chr3:196159103-196159714	GM12878	blood:	n/a	n/a
32	BCLAF1	chr3:196168250-196168789	GM12878	blood:	n/a	n/a
33	BCLAF1	chr3:196158460-196159984	GM12878	blood:	n/a	chr3:196158544-196158553
34	BCLAF1	chr3:196166652-196167593	GM12878	blood:	n/a	chr3:196167359-196167368
35	BCLAF1	chr3:196172224-196172568	GM12878	blood:	n/a	n/a
36	BHLHE40	chr3:196159074-196159821	K562	blood:	n/a	n/a
37	BHLHE40	chr3:196126286-196126617	K562	blood:	n/a	n/a
38	BHLHE40	chr3:196148626-196148866	GM12878	blood:	n/a	n/a
39	BHLHE40	chr3:196075572-196075865	HepG2	liver:	n/a	n/a
40	BHLHE40	chr3:196074220-196074547	HepG2	liver:	n/a	n/a
41	BHLHE40	chr3:196170953-196171063	K562	blood:	n/a	n/a
42	BHLHE40	chr3:196074104-196074694	HepG2	liver:	n/a	n/a
43	BHLHE40	chr3:196159155-196159710	GM12878	blood:	n/a	n/a
44	BHLHE40	chr3:196139756-196139945	GM12878	blood:	n/a	n/a
45	BHLHE40	chr3:196074282-196074482	A549	lung:	n/a	n/a
46	BHLHE40	chr3:196081000-196081396	K562	blood:	n/a	n/a
47	BHLHE40	chr3:196166933-196167159	GM12878	blood:	n/a	n/a
48	BHLHE40	chr3:196074164-196074525	HepG2	liver:	n/a	n/a
49	BRCA1	chr3:196159096-196159435	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr3:196123916-196123958	Hela-S3	cervix:	n/a	n/a

(count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:196154735-196154785	AG09309	skin:	n/a
2	chr3:196159430-196159480	NH-A	brain:	n/a
3	chr3:196082185-196082235	GM12891	blood:	n/a
4	chr3:196154735-196154785	AG09309	skin:	n/a
5	chr3:196159430-196159480	NH-A	brain:	n/a
6	chr3:196082185-196082235	GM12891	blood:	n/a
7	chr3:196112485-196112535	HEEpiC	esophagus:	n/a
8	chr3:196158975-196159025	LNCaP	prostate:	n/a
9	chr3:196112485-196112535	HNPCEpiC	eye:	n/a
10	chr3:196159443-196159493	MCF-7	breast:	n/a
11	chr3:196163167-196163217	T-47D	breast:	n/a
12	chr3:196158604-196158654	ProgFib	skin:	n/a
13	chr3:196157488-196157538	CMK	blood:	n/a
14	chr3:196157488-196157538	LNCaP	prostate:	n/a
15	chr3:196159654-196159704	HNPCEpiC	eye:	n/a
16	chr3:196082185-196082235	Hepatocyte	liver:	n/a
17	chr3:196163167-196163217	HIPEpiC	eye:	n/a
18	chr3:196158604-196158654	BJ	skin:	n/a
19	chr3:196159589-196159639	NB4	blood:	n/a
20	chr3:196158458-196158508	HEEpiC	esophagus:	n/a
21	chr3:196160269-196160319	HL-60	blood:	n/a
22	chr3:196112485-196112535	HAEpiC	amniotic membrane:	n/a
23	chr3:196154735-196154785	PrEC	prostate:	n/a
24	chr3:196158975-196159025	HEEpiC	esophagus:	n/a
25	chr3:196159589-196159639	HUVEC	blood vessel:	n/a
26	chr3:196082185-196082235	Jurkat	blood:	n/a
27	chr3:196159654-196159704	NHDF-neo	bronchial:	n/a
28	chr3:196154735-196154785	GM12878	blood:	n/a
29	chr3:196112441-196112491	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:196112485-196112535	HCF	heart:	n/a
31	chr3:196159428-196159478	SK-N-MC	brain:	n/a
32	chr3:196159589-196159639	IMR90	lung:	fetal
33	chr3:196134040-196134090	GM19239	blood:	n/a
34	chr3:196134040-196134090	A549	lung:	n/a
35	chr3:196160269-196160319	IMR90	lung:	fetal
36	chr3:196159742-196159792	HUVEC	blood vessel:	n/a
37	chr3:196158604-196158654	SK-N-SH	brain:	n/a
38	chr3:196159430-196159480	Jurkat	blood:	n/a
39	chr3:196112485-196112535	HPAEpiC	pulmonary alveolar:	n/a
40	chr3:196112485-196112535	Caco-2	colon:	n/a
41	chr3:196159742-196159792	HRPEpiC	eye:	n/a
42	chr3:196158604-196158654	HAEpiC	amniotic membrane:	n/a
43	chr3:196154735-196154785	AoSMC	blood vessel:	n/a
44	chr3:196134040-196134090	NHBE	bronchial:	n/a
45	chr3:196160269-196160319	Jurkat	blood:	n/a
46	chr3:196163167-196163217	LNCaP	prostate:	n/a
47	chr3:196082185-196082235	K562	blood:	n/a
48	chr3:196157488-196157538	Hela-S3	cervix:	n/a
49	chr3:196134040-196134090	K562	blood:	n/a
50	chr3:196158604-196158654	AG04449	skin:	fetal

(count:119 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:196106180..196108798-chr3:196131015..196133937,2	K562	blood:
2	chr3:196091786..196093486-chr3:196095004..196096934,2	K562	blood:
3	chr3:196075208..196077147-chr3:196092835..196095668,2	MCF-7	breast:
4	chr3:196090944..196093286-chr3:196094275..196096504,2	K562	blood:
5	chr3:196103840..196105428-chr3:196134331..196136601,2	K562	blood:
6	chr3:196136134..196138094-chr3:196139731..196142693,2	MCF-7	breast:
7	chr3:196070078..196071619-chr3:196082742..196085208,2	MCF-7	breast:
8	chr3:196122393..196124913-chr3:196156464..196158992,2	K562	blood:
9	chr3:196081918..196083846-chr3:196086932..196089024,2	MCF-7	breast:
10	chr3:196159301..196160824-chr3:196161836..196164754,2	K562	blood:
11	chr3:196119980..196121933-chr3:196124713..196127635,2	K562	blood:
12	chr3:196142039..196143861-chr3:196152128..196153766,2	K562	blood:
13	chr3:196091299..196094220-chr3:196098056..196100993,2	K562	blood:
14	chr3:196141252..196144269-chr3:196156132..196159326,3	K562	blood:
15	chr3:195980475..195981134-chr3:196172324..196172888,2	MCF-7	breast:
16	chr3:196141592..196145403-chr3:196157124..196159775,4	MCF-7	breast:
17	chr3:196087051..196089707-chr3:196092775..196094458,2	K562	blood:
18	chr3:196119980..196121933-chr3:196124713..196127635,2	K562	blood:
19	chr3:196091299..196094220-chr3:196098056..196100993,2	K562	blood:
20	chr3:196078088..196079673-chr3:196083665..196086587,2	MCF-7	breast:
21	chr3:196084775..196086464-chr3:196096012..196098919,2	K562	blood:
22	chr3:196081918..196083846-chr3:196086932..196089024,2	MCF-7	breast:
23	chr3:196129528..196131514-chr3:196134157..196136154,2	K562	blood:
24	chr3:196067298..196070005-chr3:196075365..196077810,2	K562	blood:
25	chr3:196090944..196093286-chr3:196094275..196096504,2	K562	blood:
26	chr3:196043550..196045099-chr3:196157832..196159641,2	MCF-7	breast:
27	chr3:196075057..196077486-chr3:196084676..196086437,2	K562	blood:
28	chr3:196074413..196075944-chr3:196157333..196159734,2	MCF-7	breast:
29	chr3:196070139..196072879-chr3:196076090..196077663,2	K562	blood:
30	chr3:196133998..196136496-chr3:196146393..196149316,3	K562	blood:
31	chr3:196103840..196105489-chr3:196133127..196135831,2	K562	blood:
32	chr3:196103840..196105489-chr3:196133127..196135831,2	K562	blood:
33	chr3:196087051..196089707-chr3:196092775..196094458,2	K562	blood:
34	chr3:196068323..196070202-chr3:196157580..196160834,5	MCF-7	breast:
35	chr3:196115479..196118192-chr3:196129291..196130932,2	K562	blood:
36	chr3:196075057..196077486-chr3:196084676..196086437,2	K562	blood:
37	chr3:196136760..196139527-chr3:196139977..196142790,2	K562	blood:
38	chr3:196158798..196162139-chr3:196165754..196167918,3	K562	blood:
39	chr3:196063791..196065342-chr3:196100454..196102921,2	K562	blood:
40	chr3:196141592..196145403-chr3:196157124..196159775,4	MCF-7	breast:
41	chr3:196070139..196072879-chr3:196076090..196077663,2	K562	blood:
42	chr3:196071912..196074086-chr3:196075769..196077797,2	MCF-7	breast:
43	chr3:196082786..196084375-chr3:196104445..196107093,2	K562	blood:
44	chr3:196133998..196136496-chr3:196146393..196149316,3	K562	blood:
45	chr3:196013208..196015292-chr3:196071968..196073510,2	MCF-7	breast:
46	chr16:4526518..4527018-chr3:196105176..196106110,2	Hela-S3	cervix:
47	chr3:196075208..196077147-chr3:196092835..196095668,2	MCF-7	breast:
48	chr19:2234775..2236762-chr3:196074276..196076794,2	MCF-7	breast:
49	chr3:196150524..196154705-chr3:196157628..196161490,4	K562	blood:
50	chr3:196062778..196068235-chr3:196157235..196160927,9	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO45-2	chr3:196158256-196158312	ENSG00000225822.2
2	lnc-FBXO45-5	chr3:196176730-196179318	NONHSAT094339
3	lnc-FBXO45-2	chr3:196159073-196159401	ENSG00000225822.2
4	lnc-FBXO45-6	chr3:196172625-196173629	NONHSAT094338
5	lnc-TM4SF19-1	chr3:196124382-196124649	NONHSAT094331
6	lnc-AC069257.9.1-11	chr3:196126782-196127077	NONHSAT094332
7	lnc-FBXO45-7	chr3:196150193-196150393	NONHSAT094335
8	lnc-FBXO45-2	chr3:196158235-196160242	ENSG00000225822.3

No data

Variant related genes	Relation type
RNU6-910P	TF binding region
RN7SL434P	TF binding region
RN7SL738P	TF binding region
ENSG00000225240	TF binding region
ENSG00000226345	TF binding region
UBXN7	TF binding region
UBXN7-AS1	TF binding region
RNU6-1279P	TF binding region
RNU6-910P	CpG island
RN7SL434P	CpG island
RN7SL738P	CpG island
ENSG00000225240	CpG island
ENSG00000226345	CpG island
UBXN7	CpG island
UBXN7-AS1	CpG island
RNU6-1279P	CpG island
ENSG00000226345	chromatin interactions
ENSG00000104897	chromatin interactions
ENSG00000104886	chromatin interactions
ENSG00000235897	chromatin interactions
ENSG00000137880	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000273331	chromatin interactions
ENSG00000225822	chromatin interactions
ENSG00000145107	chromatin interactions
ENSG00000241868	chromatin interactions
ENSG00000163961	chromatin interactions
ENSG00000243339	chromatin interactions
ENSG00000163960	chromatin interactions
ENSG00000212146	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000206644	chromatin interactions

Extended variants
information (count: 4350 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4350 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	rs530217119	chr3:196072569-196072570	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs548403210	chr3:196072574-196072575	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs552367259	chr3:196072579-196072580	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs566621324	chr3:196072589-196072590	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs570856328	chr3:196072598-196072599	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs534072258	chr3:196072636-196072637	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs201142425	chr3:196072744-196072745	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs558870079	chr3:196072796-196072797	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs114409268	chr3:196072834-196072835	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs528423622	chr3:196072845-196072846	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs538894473	chr3:196072854-196072855	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs557306175	chr3:196072855-196072856	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs575642788	chr3:196072856-196072857	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs542820819	chr3:196072857-196072858	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs139490744	chr3:196072861-196072862	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs545792586	chr3:196072874-196072875	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs572857415	chr3:196072875-196072876	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs192023758	chr3:196072897-196072898	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs184953726	chr3:196072903-196072904	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs190448502	chr3:196072907-196072908	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs544230212	chr3:196072936-196072937	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs564265283	chr3:196072953-196072954	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs562821108	chr3:196072992-196072993	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs111551015	chr3:196073049-196073050	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs9877304	chr3:196073072-196073073	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs547062293	chr3:196073112-196073113	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs536064063	chr3:196073119-196073120	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs566731301	chr3:196073122-196073123	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs527735685	chr3:196073162-196073163	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs181082511	chr3:196073175-196073176	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs570789756	chr3:196073190-196073191	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs537834757	chr3:196073203-196073204	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs529311288	chr3:196073207-196073208	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs112748780	chr3:196073209-196073210	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs569168711	chr3:196073215-196073216	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs536561537	chr3:196073216-196073217	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs554758132	chr3:196073218-196073219	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs572975117	chr3:196073219-196073220	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs533853541	chr3:196073226-196073227	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs558357201	chr3:196073267-196073268	Weak transcription Strong transcription Enhancers	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:3236 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

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	chr3:196065600-196074200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:196065600-196074200	Weak transcription	HSMM	muscle
5	chr3:196065600-196075200	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:196065600-196080800	Weak transcription	HSMMtube	muscle
7	chr3:196065600-196082400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:196065600-196082600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:196065600-196084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:196066200-196081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:196067000-196075400	Weak transcription	Placenta	Placenta
12	chr3:196067200-196074800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:196067400-196074800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:196067600-196073600	Weak transcription	A549	lung
15	chr3:196067600-196074800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:196068000-196079000	Weak transcription	Fetal Intestine Small	intestine
17	chr3:196068000-196080800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:196068400-196074800	Weak transcription	Hela-S3	cervix
19	chr3:196068400-196075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:196068400-196075200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:196068400-196075800	Weak transcription	NH-A	brain
22	chr3:196068600-196076600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:196068600-196077600	Weak transcription	Osteobl	bone
24	chr3:196068600-196080800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:196068600-196081000	Weak transcription	NHDF-Ad	bronchial
26	chr3:196070000-196074800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:196070000-196080600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:196070200-196075200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:196070400-196074000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:196070400-196074200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:196070400-196074200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:196070400-196074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:196070400-196076000	Weak transcription	Esophagus	oesophagus
34	chr3:196070400-196082200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:196070400-196082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:196070400-196082400	Weak transcription	HMEC	breast
37	chr3:196070600-196082600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:196070800-196073000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:196070800-196074800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:196070800-196080800	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:196070800-196081200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr3:196070800-196081800	Weak transcription	Brain Germinal Matrix	brain
44	chr3:196070800-196082600	Weak transcription	Aorta	Aorta
45	chr3:196071000-196073000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr3:196071000-196074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:196071000-196075200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:196071000-196081000	Weak transcription	NHEK	skin
49	chr3:196071000-196081200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:196071000-196081400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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