Variant report

Variant	esv3433243
Chromosome Location	chr19:23249108-23585814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3170)
CpG islands
(count:2565)
Chromatin interactive
region (count:41)
LncRNA
region (count:177)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3170 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:23577108-23577573	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:23445696-23446125	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:23464504-23464974	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:23584631-23584918	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:23444247-23444991	HepG2	liver:	n/a	n/a
6	ARID3A	chr19:23578021-23578544	HepG2	liver:	n/a	n/a
7	ARID3A	chr19:23466709-23467067	HepG2	liver:	n/a	n/a
8	ARID3A	chr19:23582385-23582618	HepG2	liver:	n/a	n/a
9	ARID3A	chr19:23456812-23457259	HepG2	liver:	n/a	n/a
10	ARID3A	chr19:23447039-23447307	HepG2	liver:	n/a	n/a
11	ARID3A	chr19:23446454-23446478	HepG2	liver:	n/a	n/a
12	ARID3A	chr19:23456159-23456538	HepG2	liver:	n/a	n/a
13	ATF1	chr19:23446042-23446111	K562	blood:	n/a	n/a
14	ATF1	chr19:23578242-23578507	K562	blood:	n/a	n/a
15	ATF1	chr19:23433220-23433454	K562	blood:	n/a	n/a
16	ATF1	chr19:23495315-23495375	K562	blood:	n/a	n/a
17	ATF1	chr19:23447008-23447350	K562	blood:	n/a	n/a
18	ATF1	chr19:23281757-23282018	K562	blood:	n/a	n/a
19	ATF3	chr19:23366086-23366362	K562	blood:	n/a	n/a
20	BACH1	chr19:23254012-23254386	K562	blood:	n/a	n/a
21	BACH1	chr19:23487075-23487353	K562	blood:	n/a	chr19:23487225-23487239
22	BACH1	chr19:23487080-23487334	H1-hESC	embryonic stem cell:	n/a	chr19:23487225-23487239
23	BACH1	chr19:23258207-23258737	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr19:23299870-23300328	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr19:23445639-23446052	GM12878	blood:	n/a	chr19:23445853-23445864
26	BATF	chr19:23445759-23445944	GM12878	blood:	n/a	chr19:23445853-23445864
27	BCL3	chr19:23444939-23445223	GM12878	blood:	n/a	n/a
28	BCLAF1	chr19:23432706-23433316	GM12878	blood:	n/a	chr19:23432778-23432791
29	BCLAF1	chr19:23577806-23578259	GM12878	blood:	n/a	chr19:23577863-23577876
30	BCLAF1	chr19:23577695-23578386	GM12878	blood:	n/a	chr19:23577863-23577876
31	BHLHE40	chr19:23456780-23457323	GM12878	blood:	n/a	n/a
32	BHLHE40	chr19:23456932-23457093	K562	blood:	n/a	n/a
33	BHLHE40	chr19:23578060-23578466	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:23432887-23433585	GM12878	blood:	n/a	n/a
35	BHLHE40	chr19:23258049-23258086	HepG2	liver:	n/a	n/a
36	BHLHE40	chr19:23257962-23258012	K562	blood:	n/a	n/a
37	BHLHE40	chr19:23465524-23465669	GM12878	blood:	n/a	n/a
38	BHLHE40	chr19:23254011-23254389	K562	blood:	n/a	chr19:23254215-23254231
39	BHLHE40	chr19:23456098-23456569	GM12878	blood:	n/a	n/a
40	BRCA1	chr19:23254014-23254389	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr19:23456838-23457224	GM12878	blood:	n/a	n/a
42	BRCA1	chr19:23254011-23254388	HepG2	liver:	n/a	n/a
43	BRCA1	chr19:23577359-23578465	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr19:23395180-23395185	GM12878	blood:	n/a	n/a
45	BRCA1	chr19:23577414-23577648	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr19:23444310-23444991	HepG2	liver:	n/a	n/a
47	BRCA1	chr19:23577365-23578276	HepG2	liver:	n/a	n/a
48	BRCA1	chr19:23300598-23300786	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr19:23577422-23577533	GM12878	blood:	n/a	n/a
50	BRCA1	chr19:23456865-23457107	HepG2	liver:	n/a	n/a

(count:2565 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:23385934-23385984	ProgFib	skin:	n/a
2	chr19:23578063-23578113	H1-hESC	embryonic stem cell:	embryo
3	chr19:23254131-23254181	HCF	heart:	n/a
4	chr19:23385934-23385984	ProgFib	skin:	n/a
5	chr19:23578063-23578113	H1-hESC	embryonic stem cell:	embryo
6	chr19:23254131-23254181	HCF	heart:	n/a
7	chr19:23578365-23578415	AG09309	skin:	n/a
8	chr19:23578679-23578729	AoSMC	blood vessel:	n/a
9	chr19:23299649-23299699	HIPEpiC	eye:	n/a
10	chr19:23253316-23253366	SK-N-MC	brain:	n/a
11	chr19:23299889-23299939	ProgFib	skin:	n/a
12	chr19:23254131-23254181	HL-60	blood:	n/a
13	chr19:23258148-23258198	LNCaP	prostate:	n/a
14	chr19:23258484-23258534	ovcar-3	ovarian:	n/a
15	chr19:23258148-23258198	NHDF-neo	bronchial:	n/a
16	chr19:23258096-23258146	H1-hESC	embryonic stem cell:	embryo
17	chr19:23258096-23258146	MCF10A-Er-Src	breast:	n/a
18	chr19:23383482-23383532	Hepatocyte	liver:	n/a
19	chr19:23390590-23390640	HUVEC	blood vessel:	n/a
20	chr19:23258484-23258534	K562	blood:	n/a
21	chr19:23258148-23258198	AG04449	skin:	fetal
22	chr19:23253316-23253366	SK-N-SH_RA	brain:	n/a
23	chr19:23578063-23578113	ECC-1	luminal epithelium:	n/a
24	chr19:23299889-23299939	GM06990	blood:	n/a
25	chr19:23578063-23578113	SK-N-SH	brain:	n/a
26	chr19:23250275-23250325	Jurkat	blood:	n/a
27	chr19:23386892-23386942	Hela-S3	cervix:	n/a
28	chr19:23387068-23387118	Jurkat	blood:	n/a
29	chr19:23253218-23253268	HEEpiC	esophagus:	n/a
30	chr19:23253797-23253847	NB4	blood:	n/a
31	chr19:23253455-23253505	SAEC	small airway:	n/a
32	chr19:23254381-23254431	GM12891	blood:	n/a
33	chr19:23387133-23387183	BJ	skin:	n/a
34	chr19:23258484-23258534	RPTEC	kidney:	n/a
35	chr19:23253455-23253505	GM12892	blood:	n/a
36	chr19:23258096-23258146	PANC-1	pancreas:	n/a
37	chr19:23456575-23456625	HRE	kidney:	n/a
38	chr19:23457005-23457055	SK-N-MC	brain:	n/a
39	chr19:23577714-23577764	BJ	skin:	n/a
40	chr19:23254381-23254431	SK-N-MC	brain:	n/a
41	chr19:23385934-23385984	PANC-1	pancreas:	n/a
42	chr19:23258484-23258534	U87	brain:	n/a
43	chr19:23454693-23454743	LNCaP	prostate:	n/a
44	chr19:23253834-23253884	ovcar-3	ovarian:	n/a
45	chr19:23578292-23578342	HL-60	blood:	n/a
46	chr19:23258573-23258623	GM12892	blood:	n/a
47	chr19:23299889-23299939	GM12891	blood:	n/a
48	chr19:23253797-23253847	GM06990	blood:	n/a
49	chr19:23456575-23456625	LNCaP	prostate:	n/a
50	chr19:23299728-23299778	GM12892	blood:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:23433051..23435448-chr19:23455541..23457705,2	MCF-7	breast:
2	chr19:23252641..23255002-chr19:23257415..23259086,2	K562	blood:
3	chr19:23450360..23452680-chr19:23454564..23456528,2	MCF-7	breast:
4	chr19:23577656..23578478-chr19:49121947..49122666,2	NB4	blood:
5	chr1:156184731..156186500-chr19:23252697..23254216,3	K562	blood:
6	chr19:23432656..23435103-chr19:23454271..23457071,2	MCF-7	breast:
7	chr19:23298392..23301079-chr19:23302375..23304174,2	MCF-7	breast:
8	chr19:23439080..23441693-chr19:23448189..23450377,2	MCF-7	breast:
9	chr19:23456603..23457127-chr19:24215859..24216611,4	MCF-7	breast:
10	chr19:23305214..23307140-chr19:23310499..23313073,2	MCF-7	breast:
11	chr19:23258209..23259774-chr19:23281850..23284587,2	MCF-7	breast:
12	chr19:23426796..23428873-chr19:23431504..23433351,2	K562	blood:
13	chr19:23426796..23428873-chr19:23431504..23434558,3	K562	blood:
14	chr13:91999526..92000349-chr19:23432834..23433455,2	NB4	blood:
15	chr19:23252641..23255002-chr19:23257415..23259086,2	K562	blood:
16	chr19:23252878..23255716-chr19:23257879..23260190,3	MCF-7	breast:
17	chr19:23257908..23260117-chr19:23261003..23263965,2	MCF-7	breast:
18	chr19:23257421..23258419-chr3:62304521..62305100,2	MCF-7	breast:
19	chr19:23520093..23520713-chr21:9826403..9827051,2	MCF-7	breast:
20	chr17:56735011..56736549-chr19:23464937..23466566,2	MCF-7	breast:
21	chr19:23431827..23434798-chr19:23443635..23445528,2	MCF-7	breast:
22	chr19:23299713..23300295-chr19:24269911..24270643,3	Hela-S3	cervix:
23	chr19:23571146..23573840-chr19:23574386..23577614,3	K562	blood:
24	chr19:23258209..23259774-chr19:23281850..23284587,2	MCF-7	breast:
25	chr19:23450360..23452680-chr19:23454564..23456528,2	MCF-7	breast:
26	chr19:23443599..23446084-chr19:23455345..23457112,3	MCF-7	breast:
27	chr19:23576348..23579660-chr19:23867719..23870587,3	MCF-7	breast:
28	chr19:23564648..23566828-chr19:23577196..23579466,2	MCF-7	breast:
29	chr19:23571146..23574036-chr19:23574733..23577243,2	K562	blood:
30	chr19:23577154..23579229-chr19:23583278..23584951,2	MCF-7	breast:
31	chr19:23574385..23576315-chr19:23576535..23579430,2	K562	blood:
32	chr19:23432656..23435103-chr19:23454271..23457071,2	MCF-7	breast:
33	chr19:23431827..23434798-chr19:23443635..23445528,2	MCF-7	breast:
34	chr19:23571146..23573840-chr19:23574386..23577614,3	K562	blood:
35	chr19:23256417..23259218-chr19:23299816..23301387,2	MCF-7	breast:
36	chr19:23433051..23435448-chr19:23455541..23457705,2	MCF-7	breast:
37	chr19:23571146..23574036-chr19:23574733..23577243,2	K562	blood:
38	chr19:23456110..23458063-chr19:23465875..23467770,2	MCF-7	breast:
39	chr19:23252878..23255716-chr19:23257879..23260190,3	MCF-7	breast:
40	chr19:23443599..23446084-chr19:23455345..23457112,3	MCF-7	breast:
41	chr19:23305214..23307140-chr19:23310499..23313073,2	MCF-7	breast:

(count:177 , 50 per page) page: 1 2 3 4

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092329.1-1	chr19:23456878-23457053	ENSG00000213971.3
2	lnc-ZNF730-10	chr19:23471422-23472147	NONHSAT063883
3	lnc-AC092329.1-2	chr19:23521678-23521856	NONHSAT063903
4	lnc-AC092329.1-1	chr19:23444422-23444546	NONHSAT063866
5	lnc-AC092329.1-2	chr19:23491726-23491899	XLOC_013275
6	lnc-AC092329.1-1	chr19:23456878-23457030	ENSG00000213971.3
7	lnc-AC092329.1-1	chr19:23456878-23457034	ENSG00000213971.3
8	lnc-AC092329.1-1	chr19:23453020-23453094	ENSG00000213971.3
9	lnc-AC092329.1-1	chr19:23437860-23438373	NONHSAT063868
10	lnc-AC092329.1-1	chr19:23452692-23453088	XLOC_013274
11	lnc-ZNF730-6	chr19:23281142-23281215	ENSG00000267886.1
12	lnc-AC092329.1-2	chr19:23489611-23491899	NONHSAT063892
13	lnc-AC092329.1-1	chr19:23443666-23443738	NONHSAT063877
14	lnc-AC092329.1-1	chr19:23444157-23444546	ENSG00000213971.3
15	lnc-AC092329.1-1	chr19:23444422-23444546	ENSG00000213971.3
16	lnc-ZNF724P-5	chr19:23251848-23252030	NONHSAT063851
17	lnc-AC092329.1-1	chr19:23443666-23443736	ENSG00000213971.3
18	lnc-AC092329.1-2	chr19:23493350-23493434	XLOC_013275
19	lnc-AC092329.1-1	chr19:23437856-23442918	NONHSAT063866
20	lnc-AC092329.1-1	chr19:23443632-23443736	XLOC_013274
21	lnc-ZNF91-1	chr19:23582041-23583849	ENSG00000246181
22	lnc-AC092329.1-1	chr19:23453020-23453094	NONHSAT063867
23	lnc-AC092329.1-1	chr19:23452688-23453094	ENSG00000213971.3
24	lnc-AC092329.1-1	chr19:23444422-23444546	XLOC_013274
25	lnc-AC092329.1-1	chr19:23453020-23453094	ENSG00000269107.1
26	lnc-AC092329.1-1	chr19:23453020-23453094	XLOC_013274
27	lnc-AC092329.1-2	chr19:23487801-23487933	NONHSAT063886
28	lnc-ZNF724P-4	chr19:23305990-23306890	NONHSAT063861
29	lnc-AC092329.1-1	chr19:23444422-23445436	ENSG00000213971.3
30	lnc-AC092329.1-2	chr19:23487809-23487915	XLOC_013275
31	lnc-AC092329.1-1	chr19:23437950-23438236	NONHSAT146968
32	lnc-ZNF730-5	chr19:23331932-23332763	NONHSAT063860
33	lnc-AC092329.1-1	chr19:23452622-23453094	XLOC_013274
34	lnc-ZNF91-1	chr19:23582272-23583849	ENSG00000246181
35	lnc-AC092329.1-2	chr19:23490106-23490204	NONHSAT063893
36	lnc-AC092329.1-1	chr19:23452622-23452736	XLOC_013274
37	lnc-ZNF724P-3	chr19:23433042-23433172	NR_045525
38	lnc-AC092329.1-1	chr19:23456878-23456979	XLOC_013274
39	lnc-AC092329.1-2	chr19:23493350-23493434	XLOC_013275
40	lnc-AC092329.1-2	chr19:23493350-23493472	NONHSAT063894
41	lnc-AC092329.1-1	chr19:23456878-23457037	XLOC_013274
42	lnc-AC092329.1-2	chr19:23491726-23491899	XLOC_013275
43	lnc-AC092329.1-1	chr19:23453020-23453094	ENSG00000213971.3
44	lnc-AC092329.1-1	chr19:23456878-23457053	NONHSAT063866
45	lnc-AC092329.1-2	chr19:23491532-23491899	XLOC_013275
46	lnc-ZNF724P-3	chr19:23414969-23415095	NR_045525
47	lnc-ZNF724P-5	chr19:23251699-23251747	NONHSAT063851
48	lnc-ZNF724P-5	chr19:23251245-23251366	NONHSAT063851
49	lnc-ZNF91-1	chr19:23585069-23585314	NONHSAT063911
50	lnc-AC092329.1-2	chr19:23541232-23541650	NONHSAT063902

No data

Variant related genes	Relation type
ENSG00000268105	TF binding region
ENSG00000268992	TF binding region
ENSG00000269837	TF binding region
ZNF724P	TF binding region
ENSG00000213971	TF binding region
ENSG00000269543	TF binding region
ENSG00000221478	TF binding region
ENSG00000261615	TF binding region
ENSG00000267886	TF binding region
ENSG00000269431	TF binding region
ENSG00000269471	TF binding region
VN1R91P	TF binding region
ZNF730	TF binding region
VN1R90P	TF binding region
ENSG00000268469	TF binding region
SNX6P1	TF binding region
ZNF91	TF binding region
ENSG00000270479	TF binding region
ENSG00000269107	TF binding region
ENSG00000267934	TF binding region
ENSG00000268105	CpG island
ENSG00000268992	CpG island
ENSG00000269837	CpG island
ZNF724P	CpG island
ENSG00000213971	CpG island
ENSG00000269543	CpG island
ENSG00000221478	CpG island
ENSG00000261615	CpG island
ENSG00000267886	CpG island
ENSG00000269431	CpG island
ENSG00000269471	CpG island
VN1R91P	CpG island
ZNF730	CpG island
VN1R90P	CpG island
ENSG00000268469	CpG island
SNX6P1	CpG island
ZNF91	CpG island
ENSG00000270479	CpG island
ENSG00000269107	CpG island
ENSG00000267934	CpG island
ENSG00000213971	chromatin interactions
ENSG00000270479	chromatin interactions
ENSG00000213096	chromatin interactions
ENSG00000183850	chromatin interactions
ENSG00000268362	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000267920	chromatin interactions
ENSG00000269837	chromatin interactions
ENSG00000167232	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000241472	chromatin interactions
ENSG00000063176	chromatin interactions
ENSG00000267886	chromatin interactions
ENSG00000114405	chromatin interactions
ENSG00000196081	chromatin interactions
ENSG00000197372	chromatin interactions
ENSG00000269543	chromatin interactions
ELK3	miRNA target sites
ARCN1	miRNA target sites
KIF16B	miRNA target sites
ARF3	miRNA target sites
NR3C2	miRNA target sites
NFIB	miRNA target sites
PLS3	miRNA target sites
SOD2	miRNA target sites
ELMO2	miRNA target sites
EIF2C2	miRNA target sites
HECTD2	miRNA target sites
TNKS	miRNA target sites
NR4A1	miRNA target sites
ELK4	miRNA target sites
DNMBP	miRNA target sites
TES	miRNA target sites

Extended variants
information (count: 13238 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:13238 , 50 per page) page: 1 2 3 4 5 6 7 ... 265

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548163769	chr19:23249120-23249121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs528488338	chr19:23249204-23249205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527707546	chr19:23249270-23249271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2453970	chr19:23249301-23249302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116030319	chr19:23249314-23249315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570868387	chr19:23249357-23249358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141468139	chr19:23249374-23249375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538829549	chr19:23249414-23249415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550843564	chr19:23249419-23249420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150838789	chr19:23249421-23249422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536515087	chr19:23249440-23249441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548517493	chr19:23249468-23249469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554588028	chr19:23249565-23249566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373346993	chr19:23249601-23249602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533559177	chr19:23249643-23249644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1238504	chr19:23249654-23249655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62121613	chr19:23249657-23249658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576912063	chr19:23249680-23249681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370696594	chr19:23249708-23249709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139259234	chr19:23249726-23249727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142730391	chr19:23249751-23249752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574709233	chr19:23249770-23249771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542090243	chr19:23249825-23249826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569566095	chr19:23249848-23249849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146280034	chr19:23249858-23249859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527647043	chr19:23249885-23249886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78272717	chr19:23249902-23249903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564603444	chr19:23249909-23249910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531872233	chr19:23249913-23249914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139386180	chr19:23249923-23249924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569042935	chr19:23249970-23249971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536451642	chr19:23249991-23249992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184163608	chr19:23249992-23249993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114975185	chr19:23249994-23249995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144114650	chr19:23250014-23250015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558295941	chr19:23250037-23250038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576514503	chr19:23250044-23250045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76310977	chr19:23250051-23250052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555862872	chr19:23250114-23250115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370344821	chr19:23250137-23250138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566873368	chr19:23250152-23250153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144028101	chr19:23250153-23250154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139580112	chr19:23250158-23250159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373235566	chr19:23250159-23250160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189930821	chr19:23250160-23250161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560832842	chr19:23250224-23250225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs16999783	chr19:23250231-23250232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546159266	chr19:23250275-23250276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376382381	chr19:23250296-23250297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564359651	chr19:23250337-23250338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6768 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23248600-23252600	Weak transcription	Placenta	Placenta
2	chr19:23249800-23253200	Weak transcription	Brain Substantia Nigra	brain
3	chr19:23252000-23253000	Weak transcription	Fetal Kidney	kidney
4	chr19:23252400-23252600	Weak transcription	Pancreas	Pancrea
5	chr19:23252600-23253000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:23252800-23253400	Bivalent Enhancer	Placenta	Placenta
7	chr19:23253000-23253200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:23253000-23253200	Active TSS	Ovary	ovary
9	chr19:23253000-23253200	Enhancers	Right Ventricle	heart
10	chr19:23253000-23253400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr19:23253000-23253400	Active TSS	Colon Smooth Muscle	Colon
12	chr19:23253000-23253400	Active TSS	Fetal Kidney	kidney
13	chr19:23253000-23253600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:23253000-23253600	Enhancers	Pancreas	Pancrea
15	chr19:23253000-23254400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr19:23253000-23254400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr19:23253000-23254600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:23253000-23254600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:23253200-23253400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr19:23253200-23253400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr19:23253200-23253400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr19:23253200-23253400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
23	chr19:23253200-23253400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr19:23253200-23253400	Active TSS	Brain Substantia Nigra	brain
25	chr19:23253200-23253400	Bivalent Enhancer	Esophagus	oesophagus
26	chr19:23253200-23253400	Enhancers	Spleen	Spleen
27	chr19:23253200-23253400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
28	chr19:23253200-23253600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
29	chr19:23253200-23253600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr19:23253200-23253600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
31	chr19:23253200-23253800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr19:23253200-23253800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr19:23253200-23253800	Flanking Active TSS	Ovary	ovary
34	chr19:23253200-23254000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr19:23253200-23254000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:23253200-23254000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:23253200-23254000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr19:23253200-23254000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr19:23253200-23254000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr19:23253200-23254000	Active TSS	Right Atrium	heart
41	chr19:23253200-23254200	Active TSS	Primary B cells from cord blood	blood
42	chr19:23253200-23254400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr19:23253200-23254400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:23253200-23254400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr19:23253200-23254400	ZNF genes & repeats	Lung	lung
46	chr19:23253200-23254400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr19:23253200-23254600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:23253200-23254600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr19:23253200-23254600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr19:23253200-23254600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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