Variant report

Variant	nsv911691
Chromosome Location	chr19:39979966-40029386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1986)
CpG islands
(count:3784)
Chromatin interactive
region (count:124)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1986 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:39993486-39993643	K562	blood:	n/a	n/a
2	ARID3A	chr19:40023272-40023768	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:39997671-39997760	K562	blood:	n/a	chr19:39997715-39997730
4	ATF2	chr19:40005761-40006172	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr19:40005751-40006206	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr19:40023131-40023850	GM12878	blood:	n/a	n/a
7	ATF2	chr19:39997498-39997800	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr19:39993364-39993846	A549	lung:	n/a	n/a
9	ATF3	chr19:40022709-40023859	A549	lung:	n/a	n/a
10	ATF3	chr19:39997612-39997908	K562	blood:	n/a	n/a
11	ATF3	chr19:40023277-40023731	GM12878	blood:	n/a	n/a
12	ATF3	chr19:39988533-39989443	A549	lung:	n/a	n/a
13	ATF3	chr19:39997578-39998351	A549	lung:	n/a	n/a
14	ATF3	chr19:40022437-40023864	A549	lung:	n/a	n/a
15	ATF3	chr19:40023352-40023663	K562	blood:	n/a	n/a
16	ATF3	chr19:40023409-40023642	HepG2	liver:	n/a	n/a
17	ATF3	chr19:40023311-40023712	K562	blood:	n/a	n/a
18	ATF3	chr19:40023265-40023800	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr19:39993329-39993695	K562	blood:	n/a	n/a
20	ATF3	chr19:39997401-39998267	A549	lung:	n/a	n/a
21	BACH1	chr19:39993502-39993814	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr19:40023369-40023719	K562	blood:	n/a	n/a
23	BACH1	chr19:39997692-39998293	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr19:40006485-40006494	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr19:39988448-39989967	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr19:39997961-39998087	K562	blood:	n/a	n/a
27	BACH1	chr19:40022529-40022572	K562	blood:	n/a	n/a
28	BACH1	chr19:40005623-40006251	H1-hESC	embryonic stem cell:	n/a	n/a
29	BATF	chr19:40015009-40015290	GM12878	blood:	n/a	n/a
30	BATF	chr19:40014988-40015374	GM12878	blood:	n/a	n/a
31	BCL11A	chr19:40015115-40015288	GM12878	blood:	n/a	n/a
32	BCL3	chr19:39993491-39994615	A549	lung:	n/a	n/a
33	BCL3	chr19:40005105-40006369	A549	lung:	n/a	n/a
34	BCL3	chr19:40023096-40023955	A549	lung:	n/a	n/a
35	BCL3	chr19:40022619-40023847	A549	lung:	n/a	n/a
36	BCL3	chr19:39997212-39998469	A549	lung:	n/a	chr19:39998312-39998321 chr19:39997412-39997420
37	BCLAF1	chr19:39993387-39993745	GM12878	blood:	n/a	n/a
38	BCLAF1	chr19:40023073-40023819	GM12878	blood:	n/a	n/a
39	BCLAF1	chr19:39993381-39993890	K562	blood:	n/a	n/a
40	BCLAF1	chr19:39993393-39993776	GM12878	blood:	n/a	n/a
41	BHLHE40	chr19:39993456-39993781	GM12878	blood:	n/a	n/a
42	BHLHE40	chr19:39991266-39991462	K562	blood:	n/a	n/a
43	BHLHE40	chr19:39997612-39998049	A549	lung:	n/a	n/a
44	BHLHE40	chr19:40010842-40010987	K562	blood:	n/a	n/a
45	BHLHE40	chr19:39997686-39997867	HepG2	liver:	n/a	n/a
46	BHLHE40	chr19:39997537-39998122	HepG2	liver:	n/a	n/a
47	BHLHE40	chr19:39988567-39988767	GM12878	blood:	n/a	n/a
48	BHLHE40	chr19:39993359-39993803	HepG2	liver:	n/a	n/a
49	BHLHE40	chr19:40012276-40012292	K562	blood:	n/a	n/a
50	BHLHE40	chr19:39993488-39993767	A549	lung:	n/a	n/a

(count:3784 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40024949-40024999	SK-N-SH	brain:	n/a
2	chr19:39989802-39989852	SAEC	small airway:	n/a
3	chr19:40024949-40024999	SK-N-SH	brain:	n/a
4	chr19:39989802-39989852	SAEC	small airway:	n/a
5	chr19:39998270-39998320	CMK	blood:	n/a
6	chr19:39989422-39989472	BE2_C	brain:	n/a
7	chr19:40023540-40023590	LNCaP	prostate:	n/a
8	chr19:39989412-39989462	HepG2	liver:	n/a
9	chr19:40023334-40023384	PANC-1	pancreas:	n/a
10	chr19:40023568-40023618	ProgFib	skin:	n/a
11	chr19:40005611-40005661	T-47D	breast:	n/a
12	chr19:39993313-39993363	IMR90	lung:	fetal
13	chr19:39993390-39993440	HMEC	breast:	n/a
14	chr19:39998290-39998340	ProgFib	skin:	n/a
15	chr19:39998930-39998980	AG04450	lung:	fetal
16	chr19:40005649-40005699	HEK293	kidney:	embryo
17	chr19:39998290-39998340	NT2-D1	testis:	n/a
18	chr19:39989978-39990028	ovcar-3	ovarian:	n/a
19	chr19:40005836-40005886	AoSMC	blood vessel:	n/a
20	chr19:39989412-39989462	T-47D	breast:	n/a
21	chr19:40005836-40005886	HNPCEpiC	eye:	n/a
22	chr19:39986016-39986066	HAEpiC	amniotic membrane:	n/a
23	chr19:39986016-39986066	Hela-S3	cervix:	n/a
24	chr19:39989258-39989308	CMK	blood:	n/a
25	chr19:39993697-39993747	NH-A	brain:	n/a
26	chr19:39993697-39993747	AG04450	lung:	fetal
27	chr19:40023527-40023577	HL-60	blood:	n/a
28	chr19:39989426-39989476	PFSK-1	brain:	n/a
29	chr19:40002801-40002851	U87	brain:	n/a
30	chr19:40005652-40005702	AG04449	skin:	fetal
31	chr19:40027263-40027313	AG09319	gingival:	n/a
32	chr19:39989978-39990028	BJ	skin:	n/a
33	chr19:40023540-40023590	ProgFib	skin:	n/a
34	chr19:39989978-39990028	GM12878	blood:	n/a
35	chr19:40023459-40023509	NB4	blood:	n/a
36	chr19:40009835-40009885	U87	brain:	n/a
37	chr19:39991936-39991986	NHBE	bronchial:	n/a
38	chr19:40005758-40005808	ProgFib	skin:	n/a
39	chr19:39997622-39997672	HEK293	kidney:	embryo
40	chr19:40019862-40019912	SK-N-SH_RA	brain:	n/a
41	chr19:39998018-39998068	SK-N-SH	brain:	n/a
42	chr19:39991936-39991986	ProgFib	skin:	n/a
43	chr19:39980647-39980697	NB4	blood:	n/a
44	chr19:40006192-40006242	HUVEC	blood vessel:	n/a
45	chr19:40006192-40006242	IMR90	lung:	fetal
46	chr19:40023334-40023384	HIPEpiC	eye:	n/a
47	chr19:40006192-40006242	HEEpiC	esophagus:	n/a
48	chr19:40027263-40027313	SK-N-MC	brain:	n/a
49	chr19:40009835-40009885	HEEpiC	esophagus:	n/a
50	chr19:39989802-39989852	HCM	heart:	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:39934123..39936292-chr19:39998837..40000591,2	K562	blood:
2	chr19:39902841..39904415-chr19:39988846..39990992,2	K562	blood:
3	chr19:40007684..40010217-chr19:40028799..40031419,2	K562	blood:
4	chr19:39923160..39926894-chr19:40022027..40025011,8	K562	blood:
5	chr19:39978061..39981122-chr19:39987269..39990771,3	MCF-7	breast:
6	chr19:39925162..39927908-chr19:39986730..39988641,3	K562	blood:
7	chr19:39926370..39927938-chr19:40004340..40006529,2	K562	blood:
8	chr19:39963222..39966724-chr19:40022598..40024872,4	K562	blood:
9	chr19:39892567..39894706-chr19:40016383..40018403,2	K562	blood:
10	chr19:39993528..39996626-chr19:40010694..40012599,3	K562	blood:
11	chr19:39995671..39997734-chr19:40002270..40005022,2	K562	blood:
12	chr19:39925397..39928122-chr19:40019873..40021401,2	K562	blood:
13	chr19:39890843..39892874-chr19:40028629..40030722,2	MCF-7	breast:
14	chr19:39922964..39925489-chr19:39998609..40000385,2	K562	blood:
15	chr19:39934791..39938517-chr19:40022234..40026334,4	K562	blood:
16	chr19:39993663..39995682-chr19:39996281..39998082,2	K562	blood:
17	chr19:39934545..39937545-chr19:40023023..40025430,4	MCF-7	breast:
18	chr19:39832237..39832969-chr19:40023143..40024117,2	K562	blood:
19	chr19:39925200..39927476-chr19:39987141..39989306,2	K562	blood:
20	chr19:40019907..40024445-chr19:40029285..40031709,4	MCF-7	breast:
21	chr19:39925075..39926642-chr19:40022135..40025107,3	K562	blood:
22	chr19:39969179..39972823-chr19:40019268..40024259,8	K562	blood:
23	chr19:39988412..39989049-chr19:40030541..40031120,2	MCF-7	breast:
24	chr19:39982701..39986911-chr19:39987055..39990908,4	MCF-7	breast:
25	chr19:39977704..39980525-chr19:40028766..40030427,2	K562	blood:
26	chr19:39923771..39928393-chr19:40029138..40032183,4	MCF-7	breast:
27	chr19:39992886..39995682-chr19:39996281..39999154,5	K562	blood:
28	chr19:39967682..39973021-chr19:39995906..39999826,6	K562	blood:
29	chr19:39965857..39966750-chr19:39988624..39989570,2	K562	blood:
30	chr19:39880332..39881919-chr19:40028970..40031203,2	K562	blood:
31	chr19:39988198..39988763-chr19:40162454..40163227,2	MCF-7	breast:
32	chr19:39988241..39989038-chr19:40023625..40024451,2	MCF-7	breast:
33	chr19:39935452..39937788-chr19:39978921..39980804,2	K562	blood:
34	chr19:39880509..39882503-chr19:40021734..40025038,3	K562	blood:
35	chr19:39935872..39937858-chr19:40003816..40005942,2	MCF-7	breast:
36	chr19:39989819..39993497-chr19:39996220..39998915,4	K562	blood:
37	chr19:40009271..40012163-chr19:40025249..40026752,2	K562	blood:
38	chr19:39935271..39937626-chr19:40014654..40016231,2	K562	blood:
39	chr19:39925083..39926660-chr19:39982191..39985073,2	K562	blood:
40	chr19:39982701..39986911-chr19:39987055..39990908,4	MCF-7	breast:
41	chr19:39973981..39976601-chr19:39986100..39988186,2	MCF-7	breast:
42	chr19:39975925..39978735-chr19:39983543..39985534,2	MCF-7	breast:
43	chr19:39898615..39904728-chr19:40019936..40025504,8	K562	blood:
44	chr19:39993663..39995682-chr19:39996281..39998082,2	K562	blood:
45	chr19:39930777..39932408-chr19:40023425..40025081,2	K562	blood:
46	chr19:39964931..39967106-chr19:40012497..40014185,2	K562	blood:
47	chr19:39902534..39904778-chr19:40022453..40024067,3	MCF-7	breast:
48	chr19:40023614..40026391-chr19:40028689..40031990,5	MCF-7	breast:
49	chr19:39961435..39964219-chr19:39988508..39990234,2	K562	blood:
50	chr19:39989819..39993497-chr19:39996220..39998915,4	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EID2B-1	chr19:39998899-40000234	ucscGeneNc_uc002nwj_2
2	lnc-TIMM50-1	chr19:39983935-39984355	NONHSAT066305
3	lnc-EID2B-1	chr19:40001331-40001510	ucscGeneNc_uc002nwj_2
4	lnc-DLL3-1	chr19:40009380-40009448	NONHSAT066307
5	lnc-EID2-1	chr19:40023380-40023483	NONHSAT066310
6	lnc-DLL3-1	chr19:40006086-40006661	NONHSAT066307
7	lnc-SELV.1-2	chr19:40023756-40023876	ENSG00000269792.1
8	lnc-SELV.1-3	chr19:40025103-40025661	NONHSAT066312
9	lnc-EID2B-1	chr19:40015469-40015613	ucscGeneNc_uc002nwj_2
10	lnc-SELV.1-1	chr19:40018847-40020008	NONHSAT066308
11	lnc-EID2-1	chr19:40021977-40022153	NONHSAT066310
12	lnc-EID2B-1	chr19:40015074-40015280	ucscGeneNc_uc002nwj_2
13	lnc-SELV.1-4	chr19:40024567-40024592	l_1683_chr19:40024566-40034013_testes
14	lnc-EID2B-1	chr19:40011908-40011997	ucscGeneNc_uc002nwj_2
15	lnc-TIMM50-1	chr19:39983057-39983408	NONHSAT066305
16	lnc-SELV.1-2	chr19:40024974-40025062	ENSG00000269792.1
17	lnc-SELV.1-1	chr19:40018980-40019183	XLOC_013072
18	lnc-EID2B-1	chr19:40013150-40013270	ucscGeneNc_uc002nwj_2
19	lnc-SELV.1-2	chr19:40023052-40023488	ENSG00000269792.1
20	lnc-TIMM50-1	chr19:39982152-39984422	NONHSAT066304
21	lnc-SELV.1-1	chr19:40019263-40019553	XLOC_013072

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TIMM50	hsa-miR-615-3p	chr19:39980688-39980710
2	TIMM50	hsa-miR-7-5p	chr19:39980714-39980737

Variant related genes	Relation type
ENSG00000186838	TF binding region
ENSG00000269792	TF binding region
EID2B	TF binding region
TDGF1P7	TF binding region
DLL3	TF binding region
TIMM50	TF binding region
ENSG00000186838	CpG island
ENSG00000269792	CpG island
EID2B	CpG island
TDGF1P7	CpG island
DLL3	CpG island
TIMM50	CpG island
ENSG00000266559	chromatin interactions
ENSG00000179134	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000137776	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000186838	chromatin interactions
ENSG00000090932	chromatin interactions
ENSG00000176401	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000153914	chromatin interactions
ENSG00000130755	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000269584	chromatin interactions
ENSG00000105197	chromatin interactions
ENSG00000176396	chromatin interactions
ENSG00000269246	chromatin interactions
ENSG00000269792	chromatin interactions
ENSG00000213922	chromatin interactions
ENSG00000090924	chromatin interactions

Extended variants
information (count: 2112 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2112 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4802033	chr19:39979966-39979967	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548012228	chr19:39980001-39980002	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs112700830	chr19:39980044-39980045	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs117854358	chr19:39980081-39980082	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs7256863	chr19:39980103-39980104	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs7256864	chr19:39980106-39980107	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs4803248	chr19:39980137-39980138	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73551839	chr19:39980159-39980160	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565273695	chr19:39980170-39980171	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs189242799	chr19:39980175-39980176	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs547611972	chr19:39980228-39980229	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs182278257	chr19:39980272-39980273	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs548578181	chr19:39980278-39980279	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs547332682	chr19:39980279-39980280	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs548493421	chr19:39980302-39980303	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs569594699	chr19:39980313-39980314	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs377337543	chr19:39980316-39980317	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs370706689	chr19:39980322-39980323	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs373401565	chr19:39980323-39980324	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs377536608	chr19:39980347-39980348	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs370404315	chr19:39980350-39980351	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs374850408	chr19:39980361-39980362	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs570482113	chr19:39980365-39980366	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs371263769	chr19:39980372-39980373	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs375884282	chr19:39980379-39980380	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs143168436	chr19:39980380-39980381	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs114194716	chr19:39980412-39980413	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs137968278	chr19:39980431-39980432	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs369195443	chr19:39980432-39980433	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs149462184	chr19:39980440-39980441	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs202166024	chr19:39980444-39980445	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs143864681	chr19:39980446-39980447	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs148698299	chr19:39980447-39980448	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs143483965	chr19:39980452-39980453	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs11428	chr19:39980471-39980472	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs368314509	chr19:39980476-39980477	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs576373550	chr19:39980518-39980519	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs543496720	chr19:39980558-39980559	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs568333999	chr19:39980559-39980560	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs576957723	chr19:39980577-39980578	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs150062064	chr19:39980578-39980579	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs559492314	chr19:39980581-39980582	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs530233693	chr19:39980590-39980591	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs548463987	chr19:39980595-39980596	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs140909439	chr19:39980600-39980601	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs76609107	chr19:39980612-39980613	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs551921740	chr19:39980634-39980635	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs75313376	chr19:39980647-39980648	Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs534681085	chr19:39980648-39980649	Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs546724028	chr19:39980746-39980747	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2263 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39972200-39986400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39972800-39980200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:39972800-39982200	Weak transcription	Fetal Kidney	kidney
4	chr19:39972800-39983200	Strong transcription	Fetal Brain Female	brain
5	chr19:39972800-39983600	Strong transcription	Fetal Stomach	stomach
6	chr19:39972800-39984200	Weak transcription	Stomach Mucosa	stomach
7	chr19:39972800-39988600	Weak transcription	Right Atrium	heart
8	chr19:39973000-39981600	Strong transcription	NHEK	skin
9	chr19:39973000-39982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:39973000-39983000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:39973000-39983000	Strong transcription	Fetal Intestine Small	intestine
12	chr19:39973000-39983800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:39973200-39983800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:39973200-39983800	Strong transcription	Fetal Muscle Leg	muscle
15	chr19:39973400-39981400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:39973400-39981400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:39973400-39981400	Strong transcription	Fetal Intestine Large	intestine
18	chr19:39973400-39982400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:39973400-39982800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:39973400-39983000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:39973400-39983000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:39973400-39983000	Strong transcription	Thymus	Thymus
23	chr19:39973400-39983200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:39973400-39983200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:39973400-39983200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:39973400-39983200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:39973400-39983200	Strong transcription	Primary T cells from cord blood	blood
28	chr19:39973400-39983200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:39973400-39983200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:39973400-39983400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:39973400-39983800	Strong transcription	Brain Germinal Matrix	brain
32	chr19:39973600-39980800	Strong transcription	K562	blood
33	chr19:39973600-39981200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:39973600-39981400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr19:39973600-39981400	Strong transcription	Fetal Lung	lung
36	chr19:39973600-39981400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr19:39973600-39982000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:39973600-39982800	Strong transcription	Adipose Nuclei	Adipose
39	chr19:39973600-39983000	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr19:39973600-39983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:39973600-39983200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:39973600-39983200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:39973600-39983200	Strong transcription	Liver	Liver
44	chr19:39973600-39983200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr19:39973600-39988400	Weak transcription	Fetal Brain Male	brain
46	chr19:39973800-39980000	Strong transcription	A549	lung
47	chr19:39973800-39981400	Strong transcription	Brain Angular Gyrus	brain
48	chr19:39973800-39983200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr19:39973800-39983800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:39974000-39983000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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