Variant report

Variant	esv3431689
Chromosome Location	chr19:53291230-53483998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3010)
CpG islands
(count:4522)
Chromatin interactive
region (count:101)
LncRNA
region (count:62)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:3010 , 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	chr19:53439543-53440078	K562	blood:	n/a	n/a
2	ARID3A	chr19:53438785-53438996	K562	blood:	n/a	n/a
3	ARID3A	chr19:53427687-53427726	K562	blood:	n/a	n/a
4	ARID3A	chr19:53448491-53448825	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:53466088-53466530	HepG2	liver:	n/a	n/a
6	ATF1	chr19:53445658-53445970	K562	blood:	n/a	n/a
7	ATF1	chr19:53426298-53426976	K562	blood:	n/a	n/a
8	ATF1	chr19:53465981-53466307	K562	blood:	n/a	n/a
9	ATF1	chr19:53427511-53427796	K562	blood:	n/a	n/a
10	ATF1	chr19:53439468-53440101	K562	blood:	n/a	n/a
11	ATF2	chr19:53426188-53426746	GM12878	blood:	n/a	n/a
12	ATF2	chr19:53446151-53446509	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr19:53465957-53466240	K562	blood:	n/a	chr19:53466205-53466214
14	ATF3	chr19:53439515-53439954	K562	blood:	n/a	n/a
15	ATF3	chr19:53427509-53427761	K562	blood:	n/a	n/a
16	ATF3	chr19:53438666-53438971	K562	blood:	n/a	n/a
17	BACH1	chr19:53465691-53466190	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr19:53439760-53439843	K562	blood:	n/a	n/a
19	BACH1	chr19:53445548-53445553	K562	blood:	n/a	n/a
20	BACH1	chr19:53426291-53426669	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr19:53426374-53426640	K562	blood:	n/a	n/a
22	BACH1	chr19:53360719-53361014	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr19:53400547-53401042	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr19:53324738-53324945	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr19:53407016-53407286	GM12878	blood:	n/a	n/a
26	BATF	chr19:53439647-53439948	GM12878	blood:	n/a	chr19:53439829-53439840
27	BATF	chr19:53336688-53337003	GM12878	blood:	n/a	chr19:53336917-53336927 chr19:53336913-53336923 chr19:53336723-53336732 chr19:53336898-53336906
28	BATF	chr19:53336721-53337013	GM12878	blood:	n/a	chr19:53336917-53336927 chr19:53336913-53336923 chr19:53336723-53336732 chr19:53336898-53336906
29	BATF	chr19:53294543-53294932	GM12878	blood:	n/a	chr19:53294862-53294873 chr19:53294863-53294873 chr19:53294867-53294877
30	BATF	chr19:53439573-53440019	GM12878	blood:	n/a	chr19:53439829-53439840
31	BATF	chr19:53445654-53445924	GM12878	blood:	n/a	n/a
32	BATF	chr19:53294643-53295039	GM12878	blood:	n/a	chr19:53294862-53294873 chr19:53294863-53294873 chr19:53294867-53294877
33	BCL11A	chr19:53360679-53360916	GM12878	blood:	n/a	chr19:53360828-53360837
34	BCL11A	chr19:53362420-53362624	GM12878	blood:	n/a	n/a
35	BCL11A	chr19:53428812-53428959	GM12878	blood:	n/a	n/a
36	BCL3	chr19:53426498-53426869	GM12878	blood:	n/a	chr19:53426812-53426821 chr19:53426810-53426823
37	BCL3	chr19:53439413-53440163	K562	blood:	n/a	n/a
38	BCLAF1	chr19:53426282-53426729	GM12878	blood:	n/a	chr19:53426424-53426433
39	BCLAF1	chr19:53465490-53466576	GM12878	blood:	n/a	n/a
40	BHLHE40	chr19:53445587-53445985	GM12878	blood:	n/a	n/a
41	BHLHE40	chr19:53446322-53446350	GM12878	blood:	n/a	n/a
42	BHLHE40	chr19:53446241-53446457	K562	blood:	n/a	n/a
43	BHLHE40	chr19:53324867-53324898	K562	blood:	n/a	n/a
44	BHLHE40	chr19:53465669-53466180	K562	blood:	n/a	n/a
45	BHLHE40	chr19:53401560-53401600	K562	blood:	n/a	n/a
46	BHLHE40	chr19:53465882-53466722	GM12878	blood:	n/a	n/a
47	BHLHE40	chr19:53439408-53439921	GM12878	blood:	n/a	n/a
48	BHLHE40	chr19:53400368-53401093	GM12878	blood:	n/a	n/a
49	BHLHE40	chr19:53376302-53376339	K562	blood:	n/a	n/a
50	BHLHE40	chr19:53360687-53361035	GM12878	blood:	n/a	chr19:53360820-53360836 chr19:53360998-53361014

(count:4522 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53466522-53466572	ECC-1	luminal epithelium:	n/a
2	chr19:53360213-53360263	NHDF-neo	bronchial:	n/a
3	chr19:53362925-53362975	H1-hESC	embryonic stem cell:	embryo
4	chr19:53447272-53447322	HEEpiC	esophagus:	n/a
5	chr19:53466199-53466249	AG10803	skin:	n/a
6	chr19:53465759-53465809	HCM	heart:	n/a
7	chr19:53445286-53445336	U87	brain:	n/a
8	chr19:53466210-53466260	BJ	skin:	n/a
9	chr19:53466522-53466572	ECC-1	luminal epithelium:	n/a
10	chr19:53360213-53360263	NHDF-neo	bronchial:	n/a
11	chr19:53362925-53362975	H1-hESC	embryonic stem cell:	embryo
12	chr19:53447272-53447322	HEEpiC	esophagus:	n/a
13	chr19:53466199-53466249	AG10803	skin:	n/a
14	chr19:53465759-53465809	HCM	heart:	n/a
15	chr19:53445286-53445336	U87	brain:	n/a
16	chr19:53466210-53466260	BJ	skin:	n/a
17	chr19:53429005-53429055	MCF-7	breast:	n/a
18	chr19:53400545-53400595	GM12892	blood:	n/a
19	chr19:53324198-53324248	H1-hESC	embryonic stem cell:	embryo
20	chr19:53361066-53361116	AG09309	skin:	n/a
21	chr19:53324198-53324248	HRE	kidney:	n/a
22	chr19:53463943-53463993	GM12878	blood:	n/a
23	chr19:53362925-53362975	HPAEpiC	pulmonary alveolar:	n/a
24	chr19:53466414-53466464	HRCEpiC	kidney:	n/a
25	chr19:53401204-53401254	Hela-S3	cervix:	n/a
26	chr19:53430697-53430747	MCF-7	breast:	n/a
27	chr19:53466199-53466249	CMK	blood:	n/a
28	chr19:53325080-53325130	GM12878	blood:	n/a
29	chr19:53426388-53426438	BJ	skin:	n/a
30	chr19:53361448-53361498	SAEC	small airway:	n/a
31	chr19:53469500-53469550	Hela-S3	cervix:	n/a
32	chr19:53394977-53395027	MCF10A-Er-Src	breast:	n/a
33	chr19:53446957-53447007	BJ	skin:	n/a
34	chr19:53445886-53445936	AG10803	skin:	n/a
35	chr19:53401204-53401254	SK-N-SH_RA	brain:	n/a
36	chr19:53432372-53432422	Hepatocyte	liver:	n/a
37	chr19:53466199-53466249	MCF-7	breast:	n/a
38	chr19:53395635-53395685	U87	brain:	n/a
39	chr19:53394977-53395027	GM12891	blood:	n/a
40	chr19:53466355-53466405	HCPEpiC	choroid plexus:	n/a
41	chr19:53400981-53401031	BE2_C	brain:	n/a
42	chr19:53325104-53325154	U87	brain:	n/a
43	chr19:53344366-53344416	HCM	heart:	n/a
44	chr19:53445971-53446021	HCT-116	colon:	n/a
45	chr19:53445971-53446021	GM19239	blood:	n/a
46	chr19:53302456-53302506	ProgFib	skin:	n/a
47	chr19:53326091-53326141	CMK	blood:	n/a
48	chr19:53466411-53466461	MCF-7	breast:	n/a
49	chr19:53326219-53326269	NT2-D1	testis:	n/a
50	chr19:53383549-53383599	NHDF-neo	bronchial:	n/a

(count:101 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:53458629..53461334-chr19:53495280..53497421,2	K562	blood:
2	chr19:53399773..53402425-chr19:53424830..53427617,2	MCF-7	breast:
3	chr18:61637223..61637841-chr19:53397208..53398194,2	Hela-S3	cervix:
4	chr19:53466473..53468381-chr19:53486482..53488386,2	K562	blood:
5	chr19:53449805..53452589-chr19:53464374..53466061,2	K562	blood:
6	chr19:53288948..53291766-chr19:53301308..53304079,2	K562	blood:
7	chr19:53322321..53326212-chr19:53359321..53361245,3	K562	blood:
8	chr19:53464438..53467826-chr19:53467828..53472633,5	K562	blood:
9	chr19:53462207..53464223-chr19:53697419..53699092,2	MCF-7	breast:
10	chr19:53397070..53398594-chr19:53398820..53400571,2	MCF-7	breast:
11	chr19:53339213..53341134-chr20:46203984..46206130,2	MCF-7	breast:
12	chr19:53419869..53422803-chr19:53423217..53426977,4	K562	blood:
13	chr19:53449805..53452589-chr19:53464374..53466061,2	K562	blood:
14	chr19:53466302..53467987-chr19:53468520..53470453,2	K562	blood:
15	chr19:53324497..53325251-chr19:53360339..53360857,4	MCF-7	breast:
16	chr19:53478537..53481849-chr19:53482363..53484640,3	K562	blood:
17	chr19:53398338..53403121-chr19:53425170..53428184,6	K562	blood:
18	chr19:53398490..53401733-chr19:53415760..53419901,4	K562	blood:
19	chr19:53461518..53463448-chr19:53612422..53614320,2	K562	blood:
20	chr19:53434778..53437566-chr19:53444319..53447141,2	MCF-7	breast:
21	chr19:53424791..53427731-chr19:53464365..53467863,4	K562	blood:
22	chr19:53444544..53446709-chr19:53464288..53465952,2	K562	blood:
23	chr19:53335113..53339470-chr19:53340101..53344099,5	K562	blood:
24	chr19:53322321..53326212-chr19:53359321..53361245,3	K562	blood:
25	chr19:53431907..53434266-chr19:53444043..53446544,2	K562	blood:
26	chr19:53393138..53396276-chr19:53398172..53401096,6	MCF-7	breast:
27	chr19:53465551..53467815-chr19:53472678..53475651,2	K562	blood:
28	chr19:53438104..53442400-chr19:53444179..53446884,10	K562	blood:
29	chr19:53399445..53402130-chr19:53440139..53442366,2	K562	blood:
30	chr19:53359757..53362433-chr19:53464752..53467349,2	MCF-7	breast:
31	chr19:53390480..53393412-chr19:53415932..53418277,2	K562	blood:
32	chr19:53458468..53461389-chr19:53462231..53466240,5	K562	blood:
33	chr19:53324392..53324894-chr19:53934932..53935516,2	MCF-7	breast:
34	chr11:62608903..62609637-chr19:53426135..53426686,2	Hela-S3	cervix:
35	chr19:53466302..53467987-chr19:53468520..53470453,2	K562	blood:
36	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
37	chr19:53424849..53427676-chr19:53433481..53436897,3	K562	blood:
38	chr19:53338835..53341536-chr19:53343202..53344870,2	K562	blood:
39	chr19:53425712..53428139-chr19:53470752..53473566,2	MCF-7	breast:
40	chr19:53193532..53195862-chr19:53359115..53361191,3	K562	blood:
41	chr19:53418400..53422745-chr19:53423096..53427800,7	K562	blood:
42	chr19:53399145..53401987-chr19:53438300..53441406,3	K562	blood:
43	chr19:53393138..53396276-chr19:53398172..53401096,6	MCF-7	breast:
44	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
45	chr19:53478537..53481849-chr19:53482363..53484640,3	K562	blood:
46	chr19:53424714..53426568-chr19:53443432..53446550,3	MCF-7	breast:
47	chr19:53426133..53428140-chr19:53445241..53446971,2	K562	blood:
48	chr19:53390480..53393412-chr19:53415932..53418277,2	K562	blood:
49	chr19:53451271..53453320-chr19:53454303..53456994,2	K562	blood:
50	chr19:53400711..53402486-chr19:53463191..53466156,2	K562	blood:

(count:62 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF816-1	chr19:53430388-53432667	NR_037805
2	lnc-ZNF320-3	chr19:53382704-53382886	NONHSAT067592
3	lnc-ZNF468-1	chr19:53341785-53345404	NR_102300
4	lnc-ZNF468-1	chr19:53352340-53352466	NR_102301
5	lnc-ZNF468-3	chr19:53324839-53324886	NONHSAT067588
6	lnc-VN1R2-12	chr19:53426926-53427328	ENSG00000269646.1
7	lnc-ZNF468-1	chr19:53352340-53352466	NR_102299
8	lnc-ZNF468-1	chr19:53357125-53357379	NR_102301
9	lnc-ZNF320-2	chr19:53400773-53400908	NONHSAT067594
10	lnc-ZNF701-2	chr19:53450758-53450863	ucscGeneNc_uc002pik_2
11	lnc-VN1R2-12	chr19:53426635-53426717	ENSG00000269646.1
12	lnc-ZNF468-1	chr19:53341785-53345404	NR_102301
13	lnc-ZNF468-3	chr19:53311129-53311386	NONHSAT067588
14	lnc-ZNF816-2	chr19:53474015-53474095	NONHSAT067609
15	lnc-ZNF816-1	chr19:53445794-53445847	NR_037805
16	lnc-ZNF320-3	chr19:53377411-53377490	NONHSAT067591
17	lnc-ZNF468-1	chr19:53348432-53348549	NR_102300
18	lnc-ZNF468-1	chr19:53360825-53360902	NR_102300
19	lnc-ZNF816-2	chr19:53482153-53482206	NONHSAT067613
20	lnc-ZNF320-3	chr19:53367175-53367412	NONHSAT067592
21	lnc-ZNF468-1	chr19:53357511-53357598	NR_102299
22	lnc-ZNF816-2	chr19:53478626-53479053	NONHSAT067611
23	lnc-ZNF468-3	chr19:53321197-53321281	NONHSAT067589
24	lnc-ZNF701-2	chr19:53451420-53453256	ucscGeneNc_uc002pik_2
25	lnc-ZNF320-2	chr19:53393562-53393581	NONHSAT067595
26	lnc-ZNF320-2	chr19:53397032-53397174	NONHSAT067596
27	lnc-ZNF816-2	chr19:53473877-53474095	ENSG00000269082.1
28	lnc-ZNF816-2	chr19:53482046-53482206	NONHSAT067612
29	lnc-ZNF320-2	chr19:53394482-53394599	NONHSAT067595
30	lnc-ZNF320-3	chr19:53377245-53377325	NONHSAT067592
31	lnc-ZNF320-2	chr19:53394513-53394599	NONHSAT067596
32	lnc-ZNF320-3	chr19:53377245-53377325	NONHSAT067591
33	lnc-ZNF468-1	chr19:53360825-53360902	NR_102299
34	lnc-ZNF320-2	chr19:53397032-53397109	NONHSAT067595
35	lnc-ZNF468-1	chr19:53352340-53352466	NR_102300
36	lnc-ZNF320-2	chr19:53398644-53399035	NONHSAT067597
37	lnc-ZNF320-3	chr19:53367043-53367412	NONHSAT067591
38	lnc-ZNF468-1	chr19:53341785-53345404	NR_102299
39	lnc-ZNF468-1	chr19:53357125-53357379	NR_102299
40	lnc-ZNF320-2	chr19:53396637-53396872	NONHSAT067595
41	lnc-ZNF816-2	chr19:53473636-53474095	NONHSAT067606
42	lnc-ZNF468-1	chr19:53348432-53348549	NR_102299
43	lnc-ZNF320-2	chr19:53400773-53400902	NONHSAT067595
44	lnc-ZNF701-2	chr19:53301030-53301858	NONHSAT067586
45	lnc-ZNF468-1	chr19:53357511-53357598	NR_102300
46	lnc-ZNF701-2	chr19:53452837-53452889	NONHSAT067586
47	lnc-ZNF468-2	chr19:53365060-53366119	NONHSAT067590
48	lnc-ZNF816-2	chr19:53477295-53477406	NONHSAT067610
49	lnc-ZNF320-2	chr19:53394482-53394599	NONHSAT067594
50	lnc-ZNF468-1	chr19:53360825-53360902	NR_102301

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZNF28	hsa-miR-155-5p	chr19:53301652-53301677
2	ZNF320	hsa-miR-192-5p	chr19:53381440-53381461
3	ZNF28	hsa-miR-155-5p	chr19:53301585-53301611

Variant related genes	Relation type
ZNF321P	TF binding region
ENSG00000268225	TF binding region
ZNF320	TF binding region
ZNF28	TF binding region
ZNF468	TF binding region
ENSG00000269646	TF binding region
ENSG00000255875	TF binding region
ZNF888	TF binding region
ZNF600	TF binding region
ZNF816-ZNF321P	TF binding region
ZNF702P	TF binding region
ZNF816	TF binding region
ZNF321P	CpG island
ENSG00000268225	CpG island
ZNF320	CpG island
ZNF28	CpG island
ZNF468	CpG island
ENSG00000269646	CpG island
ENSG00000255875	CpG island
ZNF888	CpG island
ZNF600	CpG island
ZNF816-ZNF321P	CpG island
ZNF702P	CpG island
ZNF816	CpG island
ENSG00000182986	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000204611	chromatin interactions
ENSG00000180257	chromatin interactions
ENSG00000242779	chromatin interactions
ENSG00000241015	chromatin interactions
ENSG00000213801	chromatin interactions
ENSG00000255875	chromatin interactions
ENSG00000160336	chromatin interactions
ENSG00000204604	chromatin interactions
ENSG00000189190	chromatin interactions
ENSG00000213793	chromatin interactions
ENSG00000108883	chromatin interactions
ENSG00000269646	chromatin interactions
ENSG00000221874	chromatin interactions
ENSG00000166401	chromatin interactions
ENSG00000198538	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000167131	chromatin interactions

Extended variants
information (count: 9654 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:9654 , 50 per page) page: 1 2 3 4 5 6 7 ... 194

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569517030	chr19:53291231-53291232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552242802	chr19:53291236-53291237	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369781585	chr19:53291237-53291238	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536886369	chr19:53291246-53291247	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10405790	chr19:53291297-53291298	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113901203	chr19:53291352-53291353	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs193047717	chr19:53291364-53291365	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142200574	chr19:53291369-53291370	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558584780	chr19:53291387-53291388	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs576783823	chr19:53291407-53291408	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544171144	chr19:53291408-53291409	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144525773	chr19:53291423-53291424	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148455991	chr19:53291436-53291437	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs185306394	chr19:53291443-53291444	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188917773	chr19:53291463-53291464	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527449558	chr19:53291480-53291481	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147637516	chr19:53291484-53291485	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565358747	chr19:53291498-53291499	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532436918	chr19:53291511-53291512	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs550942262	chr19:53291517-53291518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569616398	chr19:53291555-53291556	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs10405247	chr19:53291572-53291573	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548860220	chr19:53291600-53291601	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs181416644	chr19:53291645-53291646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571319893	chr19:53291691-53291692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184174796	chr19:53291695-53291696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113571890	chr19:53291760-53291761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2059177	chr19:53291766-53291767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs188384722	chr19:53291768-53291769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574057301	chr19:53291772-53291773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180821151	chr19:53291773-53291774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559987924	chr19:53291775-53291776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571939061	chr19:53291776-53291777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545964888	chr19:53291782-53291783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565275638	chr19:53291804-53291805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142304741	chr19:53291896-53291897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557543459	chr19:53292037-53292038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544332871	chr19:53292046-53292047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562880082	chr19:53292050-53292051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144198848	chr19:53292066-53292067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371454513	chr19:53292092-53292093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567146081	chr19:53292096-53292097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372694279	chr19:53292120-53292121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527913372	chr19:53292134-53292135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552736317	chr19:53292145-53292146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570911104	chr19:53292191-53292192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537956222	chr19:53292202-53292203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555805649	chr19:53292231-53292232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567743316	chr19:53292327-53292328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567202842	chr19:53292342-53292343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:6711 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53289000-53291400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:53290600-53292200	Weak transcription	HepG2	liver
3	chr19:53290600-53292400	Weak transcription	Spleen	Spleen
4	chr19:53290600-53293200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:53290600-53295600	Weak transcription	Gastric	stomach
6	chr19:53290600-53300000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:53290600-53301600	Weak transcription	Ovary	ovary
8	chr19:53290800-53291400	Enhancers	Primary B cells from cord blood	blood
9	chr19:53290800-53291400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr19:53290800-53291600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:53290800-53291800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:53290800-53292600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:53290800-53294400	Weak transcription	Thymus	Thymus
14	chr19:53290800-53302400	Weak transcription	Brain Germinal Matrix	brain
15	chr19:53291000-53291400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:53291000-53291600	Flanking Active TSS	Dnd41	blood
17	chr19:53291200-53291400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr19:53291200-53291400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:53291200-53291400	Active TSS	Brain Substantia Nigra	brain
20	chr19:53291200-53291600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr19:53291200-53291600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr19:53291200-53292200	Weak transcription	Placenta	Placenta
23	chr19:53291200-53294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:53291200-53297400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:53291600-53292400	Weak transcription	Brain Substantia Nigra	brain
26	chr19:53291600-53292400	Enhancers	Dnd41	blood
27	chr19:53291800-53293200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr19:53292200-53292600	Enhancers	Placenta	Placenta
29	chr19:53292200-53292800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr19:53292200-53293000	Enhancers	HepG2	liver
31	chr19:53292400-53301600	Weak transcription	Dnd41	blood
32	chr19:53292600-53293800	Weak transcription	Placenta	Placenta
33	chr19:53292600-53294400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:53292800-53293000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr19:53293000-53293200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr19:53293200-53299800	Weak transcription	Fetal Brain Female	brain
37	chr19:53293800-53294200	Enhancers	Placenta	Placenta
38	chr19:53294200-53294400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:53294400-53294800	ZNF genes & repeats	Thymus	Thymus
40	chr19:53294400-53294800	Enhancers	HUVEC	blood vessel
41	chr19:53294400-53295000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:53294600-53311400	ZNF genes & repeats	Liver	Liver
43	chr19:53296200-53324000	Weak transcription	Fetal Brain Male	brain
44	chr19:53297400-53314000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr19:53297600-53299600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr19:53298800-53299400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:53299000-53299800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:53299000-53299800	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr19:53299000-53300000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:53299200-53299800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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