Variant report

Variant	nsv458738
Chromosome Location	chr19:52306547-52621644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5013)
CpG islands
(count:7454)
Chromatin interactive
region (count:219)
LncRNA
region (count:99)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5013 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52310240-52311002	K562	blood:	n/a	n/a
2	ARID3A	chr19:52408187-52408572	K562	blood:	n/a	n/a
3	ARID3A	chr19:52511381-52511632	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:52407793-52408814	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:52551838-52552062	K562	blood:	n/a	n/a
6	ARID3A	chr19:52598763-52599031	HepG2	liver:	n/a	n/a
7	ARID3A	chr19:52531625-52531875	K562	blood:	n/a	n/a
8	ARID3A	chr19:52307809-52308459	K562	blood:	n/a	n/a
9	ARID3A	chr19:52555017-52555116	HepG2	liver:	n/a	n/a
10	ARID3A	chr19:52552024-52552805	HepG2	liver:	n/a	n/a
11	ARID3A	chr19:52531399-52531960	HepG2	liver:	n/a	n/a
12	ARID3A	chr19:52489958-52490423	HepG2	liver:	n/a	n/a
13	ARID3A	chr19:52313645-52313812	HepG2	liver:	n/a	n/a
14	ARID3A	chr19:52313557-52313692	K562	blood:	n/a	n/a
15	ARID3A	chr19:52311894-52312194	K562	blood:	n/a	n/a
16	ARID3A	chr19:52407414-52407541	HepG2	liver:	n/a	n/a
17	ARID3A	chr19:52308170-52308456	HepG2	liver:	n/a	n/a
18	ARID3A	chr19:52333617-52333822	K562	blood:	n/a	n/a
19	ARID3A	chr19:52306606-52307609	K562	blood:	n/a	n/a
20	ARID3A	chr19:52603068-52603334	HepG2	liver:	n/a	n/a
21	ATF1	chr19:52480697-52480890	K562	blood:	n/a	n/a
22	ATF1	chr19:52594171-52594249	K562	blood:	n/a	n/a
23	ATF1	chr19:52463795-52464169	K562	blood:	n/a	n/a
24	ATF1	chr19:52430091-52430806	K562	blood:	n/a	n/a
25	ATF1	chr19:52310327-52310825	K562	blood:	n/a	n/a
26	ATF1	chr19:52531294-52532287	K562	blood:	n/a	n/a
27	ATF1	chr19:52308082-52308473	K562	blood:	n/a	n/a
28	ATF1	chr19:52325702-52325884	K562	blood:	n/a	n/a
29	ATF1	chr19:52551777-52552810	K562	blood:	n/a	n/a
30	ATF1	chr19:52313567-52313801	K562	blood:	n/a	n/a
31	ATF2	chr19:52489820-52490382	GM12878	blood:	n/a	n/a
32	ATF2	chr19:52430063-52430883	GM12878	blood:	n/a	n/a
33	ATF2	chr19:52531375-52531869	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr19:52394261-52394851	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr19:52429861-52430848	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF2	chr19:52489925-52490372	GM12878	blood:	n/a	n/a
37	ATF2	chr19:52531260-52531946	GM12878	blood:	n/a	n/a
38	ATF2	chr19:52531615-52532011	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr19:52430166-52430836	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr19:52551876-52552336	GM12878	blood:	n/a	n/a
41	ATF2	chr19:52531446-52531834	GM12878	blood:	n/a	n/a
42	ATF2	chr19:52390724-52391648	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr19:52390849-52391604	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF2	chr19:52430232-52430844	GM12878	blood:	n/a	n/a
45	ATF2	chr19:52394264-52394760	H1-hESC	embryonic stem cell:	n/a	n/a
46	ATF3	chr19:52489920-52490284	GM12878	blood:	n/a	chr19:52490196-52490205
47	ATF3	chr19:52531627-52531731	GM12878	blood:	n/a	n/a
48	ATF3	chr19:52531412-52531886	GM12878	blood:	n/a	n/a
49	ATF3	chr19:52531448-52531873	K562	blood:	n/a	n/a
50	ATF3	chr19:52531484-52531864	K562	blood:	n/a	n/a

(count:7454 , 50 per page) page: 1 2 3 4 5 6 7 ... 150

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52430190-52430240	BE2_C	brain:	n/a
2	chr19:52327441-52327491	HUVEC	blood vessel:	n/a
3	chr19:52452528-52452578	U87	brain:	n/a
4	chr19:52490120-52490170	NHDF-neo	bronchial:	n/a
5	chr19:52430533-52430583	AoSMC	blood vessel:	n/a
6	chr19:52490199-52490249	GM12878	blood:	n/a
7	chr19:52408348-52408398	NHDF-neo	bronchial:	n/a
8	chr19:52598715-52598765	GM12891	blood:	n/a
9	chr19:52430334-52430384	CMK	blood:	n/a
10	chr19:52514445-52514495	AG04449	skin:	fetal
11	chr19:52599190-52599240	RPTEC	kidney:	n/a
12	chr19:52407881-52407931	BE2_C	brain:	n/a
13	chr19:52430190-52430240	BE2_C	brain:	n/a
14	chr19:52327441-52327491	HUVEC	blood vessel:	n/a
15	chr19:52452528-52452578	U87	brain:	n/a
16	chr19:52490120-52490170	NHDF-neo	bronchial:	n/a
17	chr19:52430533-52430583	AoSMC	blood vessel:	n/a
18	chr19:52490199-52490249	GM12878	blood:	n/a
19	chr19:52408348-52408398	NHDF-neo	bronchial:	n/a
20	chr19:52598715-52598765	GM12891	blood:	n/a
21	chr19:52430334-52430384	CMK	blood:	n/a
22	chr19:52514445-52514495	AG04449	skin:	fetal
23	chr19:52599190-52599240	RPTEC	kidney:	n/a
24	chr19:52407881-52407931	BE2_C	brain:	n/a
25	chr19:52408044-52408094	HRPEpiC	eye:	n/a
26	chr19:52391367-52391417	HPAEpiC	pulmonary alveolar:	n/a
27	chr19:52490223-52490273	GM12892	blood:	n/a
28	chr19:52511504-52511554	U87	brain:	n/a
29	chr19:52391250-52391300	ECC-1	luminal epithelium:	n/a
30	chr19:52490223-52490273	AG09309	skin:	n/a
31	chr19:52408350-52408400	AG09309	skin:	n/a
32	chr19:52598983-52599033	NHBE	bronchial:	n/a
33	chr19:52531703-52531753	ProgFib	skin:	n/a
34	chr19:52531867-52531917	GM12891	blood:	n/a
35	chr19:52430334-52430384	NB4	blood:	n/a
36	chr19:52511571-52511621	HepG2	liver:	n/a
37	chr19:52430334-52430384	RPTEC	kidney:	n/a
38	chr19:52452094-52452144	SAEC	small airway:	n/a
39	chr19:52409580-52409630	RPTEC	kidney:	n/a
40	chr19:52599190-52599240	T-47D	breast:	n/a
41	chr19:52430334-52430384	GM19239	blood:	n/a
42	chr19:52552197-52552247	MCF-7	breast:	n/a
43	chr19:52391234-52391284	AG04449	skin:	fetal
44	chr19:52407630-52407680	HRPEpiC	eye:	n/a
45	chr19:52453199-52453249	PFSK-1	brain:	n/a
46	chr19:52531952-52532002	HAEpiC	amniotic membrane:	n/a
47	chr19:52456033-52456083	BE2_C	brain:	n/a
48	chr19:52490211-52490261	HRPEpiC	eye:	n/a
49	chr19:52453199-52453249	AG09309	skin:	n/a
50	chr19:52531777-52531827	HIPEpiC	eye:	n/a

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr19:52297423..52299062-chr19:52310490..52313161,2	MCF-7	breast:
2	chr13:113950696..113951506-chr19:52392138..52393042,2	Hela-S3	cervix:
3	chr19:52049354..52051242-chr19:52535429..52537065,2	K562	blood:
4	chr19:52373914..52379231-chr19:52379768..52383355,4	K562	blood:
5	chr19:52495447..52499053-chr19:52500627..52503921,5	K562	blood:
6	chr19:52405347..52407239-chr19:52596697..52599121,2	K562	blood:
7	chr19:52587609..52589157-chr19:52597921..52600004,2	MCF-7	breast:
8	chr19:52551129..52553978-chr19:52617464..52619426,2	K562	blood:
9	chr19:52216085..52216905-chr19:52311568..52312097,3	MCF-7	breast:
10	chr19:52553424..52554983-chr19:52593022..52595719,2	K562	blood:
11	chr19:52520400..52521980-chr19:52530042..52533110,3	MCF-7	breast:
12	chr19:52463061..52465031-chr19:52467660..52469161,2	K562	blood:
13	chr19:52438039..52439555-chr19:52451047..52453760,2	K562	blood:
14	chr19:52510413..52512811-chr19:52548370..52551361,2	MCF-7	breast:
15	chr19:52429682..52431408-chr19:52488412..52490236,2	MCF-7	breast:
16	chr19:52568955..52571795-chr19:52572107..52574961,2	MCF-7	breast:
17	chr19:52421901..52424826-chr19:52448937..52450771,2	K562	blood:
18	chr10:70883640..70884566-chr19:52429893..52430585,2	HCT-116	colon:
19	chr19:52599336..52601507-chr19:52614635..52617112,2	MCF-7	breast:
20	chr19:52430544..52433157-chr19:52531061..52533014,2	K562	blood:
21	chr19:52373914..52379231-chr19:52379768..52383355,4	K562	blood:
22	chr19:52399759..52403972-chr19:52406809..52409528,3	K562	blood:
23	chr19:52404055..52405950-chr19:52406335..52408265,2	K562	blood:
24	chr19:52530731..52533530-chr19:52587536..52590204,3	K562	blood:
25	chr19:52406520..52408589-chr19:52429418..52432281,3	K562	blood:
26	chr19:52399338..52400982-chr19:52404085..52405641,2	K562	blood:
27	chr19:52302303..52304352-chr19:52308836..52310824,2	K562	blood:
28	chr19:52364218..52366418-chr19:52619578..52622239,2	K562	blood:
29	chr19:52397856..52399876-chr19:52550582..52552472,2	K562	blood:
30	chr19:52535058..52537289-chr19:52542112..52544789,2	K562	blood:
31	chr19:52525865..52528681-chr19:52539108..52541347,2	MCF-7	breast:
32	chr19:52398554..52400309-chr19:52403863..52405675,2	K562	blood:
33	chr19:52613950..52617876-chr19:52619637..52624173,4	K562	blood:
34	chr19:52543896..52546052-chr19:52546665..52549791,3	K562	blood:
35	chr19:52431477..52433733-chr19:52438060..52439742,2	K562	blood:
36	chr19:52551561..52553801-chr19:52643165..52644706,2	K562	blood:
37	chr19:52353715..52356648-chr19:52403345..52405418,2	K562	blood:
38	chr19:52526237..52528807-chr19:52529956..52531645,2	K562	blood:
39	chr19:52495447..52499053-chr19:52500627..52503921,5	K562	blood:
40	chr19:52430544..52433157-chr19:52531061..52533014,2	K562	blood:
41	chr19:52199590..52202022-chr19:52311266..52313737,2	MCF-7	breast:
42	chr19:52389580..52393112-chr19:52395999..52399519,3	K562	blood:
43	chr19:52399759..52403972-chr19:52406809..52409528,3	K562	blood:
44	chr19:52406520..52408589-chr19:52429418..52432281,3	K562	blood:
45	chr19:52377304..52379677-chr19:52388256..52390722,2	K562	blood:
46	chr19:52535058..52537289-chr19:52542112..52544789,2	K562	blood:
47	chr19:52388375..52390016-chr19:52406809..52409493,2	K562	blood:
48	chr19:52395803..52397740-chr19:52406948..52409418,2	K562	blood:
49	chr19:52396913..52398535-chr19:52398980..52400548,2	MCF-7	breast:
50	chr19:52539717..52542637-chr19:52551136..52553234,2	K562	blood:

(count:99 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF649-3	chr19:52383971-52384130	NONHSAT067491
2	lnc-ZNF614-1	chr19:52510546-52510583	NONHSAT067507
3	lnc-ZNF613-1	chr19:52479644-52479826	NONHSAT067501
4	lnc-ZNF613-1	chr19:52484180-52484615	NONHSAT067500
5	lnc-ZNF613-4	chr19:52391278-52391379	ENSG00000268095.1
6	lnc-ZNF577-3	chr19:52307980-52308424	NONHSAT067478
7	lnc-ZNF841-1	chr19:52566900-52566956	ENSG00000260160.1
8	lnc-ZNF841-1	chr19:52566900-52566956	ENSG00000249246
9	lnc-ZNF613-1	chr19:52452415-52452488	ENSG00000269235.1
10	lnc-ZNF577-2	chr19:52343177-52343370	ENSG00000269483.1
11	lnc-ZNF649-3	chr19:52374881-52375100	NONHSAT067486
12	lnc-ZNF649-3	chr19:52381642-52381768	NR_024181
13	lnc-ZNF613-1	chr19:52479414-52479826	NONHSAT067503
14	lnc-ZNF613-1	chr19:52484180-52484773	NONHSAT067498
15	lnc-ZNF613-2	chr19:52569769-52570821	ENSG00000245697
16	lnc-ZNF577-2	chr19:52317206-52317230	NONHSAT067481
17	lnc-ZNF577-1	chr19:52399363-52399820	NONHSAT067493
18	lnc-ZNF649-3	chr19:52359057-52359220	NONHSAT067486
19	lnc-ZNF613-1	chr19:52484180-52484620	NR_103847
20	lnc-ZNF649-3	chr19:52364157-52364231	NR_024181
21	lnc-ZNF613-4	chr19:52403376-52403716	ENSG00000268095.1
22	lnc-ZNF649-3	chr19:52390074-52390165	NONHSAT067489
23	lnc-ZNF649-3	chr19:52359056-52359220	NONHSAT067485
24	lnc-ZNF614-1	chr19:52511394-52511470	NONHSAT067506
25	lnc-ZNF577-2	chr19:52346074-52346166	ENSG00000269483.1
26	lnc-ZNF613-1	chr19:52484180-52484613	ENSG00000246125
27	lnc-ZNF613-1	chr19:52452415-52452488	NONHSAT067499
28	lnc-ZNF649-3	chr19:52364157-52364332	NONHSAT067488
29	lnc-ZNF649-3	chr19:52380535-52380630	NR_024181
30	lnc-ZNF649-3	chr19:52364157-52364231	NONHSAT067486
31	lnc-ZNF649-3	chr19:52391085-52391189	NONHSAT067485
32	lnc-ZNF649-2	chr19:52425261-52425529	expReg_chr19_7235_-
33	lnc-ZNF616-1	chr19:52613571-52613979	NONHSAT067514
34	lnc-ZNF841-2	chr19:52598828-52598991	NONHSAT067511
35	lnc-ZNF841-1	chr19:52561743-52562360	ENSG00000260160.1
36	lnc-ZNF614-1	chr19:52510546-52510583	NONHSAT067506
37	lnc-ZNF649-1	chr19:52424420-52424951	expReg_chr19_7234_-
38	lnc-ZNF613-7	chr19:52550187-52550516	NONHSAT067510
39	lnc-ZNF615-1	chr19:52490023-52490058	NONHSAT067502
40	lnc-ZNF614-1	chr19:52507035-52507153	NONHSAT067506
41	lnc-ZNF613-6	chr19:52537716-52537830	NONHSAT067509
42	lnc-ZNF613-1	chr19:52452558-52452605	NONHSAT067500
43	lnc-ZNF649-3	chr19:52389369-52389718	NONHSAT067490
44	lnc-ZNF613-4	chr19:52399414-52399549	ENSG00000268095.1
45	lnc-ZNF613-2	chr19:52567872-52568844	ENSG00000245697
46	lnc-ZNF613-1	chr19:52452387-52452488	NR_103847
47	lnc-ZNF613-3	chr19:52432985-52433077	NONHSAT067495
48	lnc-ZNF577-2	chr19:52343756-52344198	ENSG00000268316.1
49	lnc-ZNF613-1	chr19:52479384-52479596	NONHSAT067499
50	lnc-ZNF613-2	chr19:52567017-52567356	ENSG00000245697

No data

Variant related genes	Relation type
ZNF649	TF binding region
ZNF841	TF binding region
ZNF614	TF binding region
ZNF577	TF binding region
HCCAT3	TF binding region
ENSG00000260160	TF binding region
ENSG00000268316	TF binding region
FPR1	TF binding region
ZNF613	TF binding region
ZNF350	TF binding region
ZNF615	TF binding region
ENSG00000269483	TF binding region
ENSG00000270248	TF binding region
FPR3	TF binding region
ENSG00000268095	TF binding region
ZNF432	TF binding region
ZNF649	CpG island
ZNF841	CpG island
ZNF614	CpG island
ZNF577	CpG island
HCCAT3	CpG island
ENSG00000260160	CpG island
ENSG00000268316	CpG island
FPR1	CpG island
ZNF613	CpG island
ZNF350	CpG island
ZNF615	CpG island
ENSG00000269483	CpG island
ENSG00000270248	CpG island
FPR3	CpG island
ENSG00000268095	CpG island
ZNF432	CpG island
ENSG00000176024	chromatin interactions
ENSG00000171051	chromatin interactions
ENSG00000256087	chromatin interactions
ENSG00000197619	chromatin interactions
ENSG00000105509	chromatin interactions
ENSG00000142556	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000198093	chromatin interactions
ENSG00000259669	chromatin interactions
ENSG00000105568	chromatin interactions
ENSG00000269235	chromatin interactions
ENSG00000122958	chromatin interactions
ENSG00000270248	chromatin interactions
ENSG00000268095	chromatin interactions
ENSG00000197608	chromatin interactions
ENSG00000268458	chromatin interactions
ENSG00000104343	chromatin interactions
ENSG00000243680	chromatin interactions
ENSG00000204611	chromatin interactions
ENSG00000269483	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000187474	chromatin interactions
ENSG00000161551	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000196214	chromatin interactions
ENSG00000256683	chromatin interactions
MRPL10	miRNA target sites
IGSF1	miRNA target sites
PIGT	miRNA target sites
SUSD1	miRNA target sites
NCBP2	miRNA target sites
EIF2AK1	miRNA target sites
TWF1	miRNA target sites
OSBPL11	miRNA target sites

Extended variants
information (count: 12366 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:12366 , 50 per page) page: 1 2 3 4 5 6 7 ... 248

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7250773	chr19:52306547-52306548	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147939263	chr19:52306563-52306564	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563643207	chr19:52306569-52306570	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530713025	chr19:52306572-52306573	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs55682489	chr19:52306607-52306608	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550228455	chr19:52306627-52306628	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562048939	chr19:52306642-52306643	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111450200	chr19:52306761-52306762	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs375287371	chr19:52306848-52306849	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571932465	chr19:52306850-52306851	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566243613	chr19:52306851-52306852	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75157749	chr19:52306901-52306902	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566151622	chr19:52306990-52306991	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555825167	chr19:52307003-52307004	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145905409	chr19:52307004-52307005	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs78541524	chr19:52307055-52307056	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570354574	chr19:52307059-52307060	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537331719	chr19:52307071-52307072	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs554956457	chr19:52307090-52307091	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566891972	chr19:52307091-52307092	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534418431	chr19:52307099-52307100	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552994118	chr19:52307236-52307237	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577656968	chr19:52307237-52307238	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548772066	chr19:52307239-52307240	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs148217206	chr19:52307272-52307273	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs556857617	chr19:52307278-52307279	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140152153	chr19:52307294-52307295	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs542909028	chr19:52307363-52307364	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531526601	chr19:52307375-52307376	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs189981900	chr19:52307407-52307408	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529264456	chr19:52307408-52307409	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541056582	chr19:52307451-52307452	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559844738	chr19:52307500-52307501	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533244537	chr19:52307518-52307519	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs78626329	chr19:52307594-52307595	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs570114746	chr19:52307752-52307753	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs111836373	chr19:52307785-52307786	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs7258819	chr19:52307825-52307826	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs549216032	chr19:52307858-52307859	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150303405	chr19:52307895-52307896	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs375979538	chr19:52307931-52307932	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552600899	chr19:52307961-52307962	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs181202352	chr19:52307968-52307969	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368673961	chr19:52307972-52307973	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148001106	chr19:52307973-52307974	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs555855801	chr19:52307974-52307975	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs12609730	chr19:52307976-52307977	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557135736	chr19:52307981-52307982	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs188122246	chr19:52307982-52307983	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs542947426	chr19:52307991-52307992	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Adrenocortical carcinoma	18281524	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	22522925	CNVD
Autism	20531469	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9300 , 50 per page) page: 1 2 3 4 5 6 7 ... 186

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52303000-52307400	Weak transcription	Dnd41	blood
2	chr19:52303200-52306800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:52303600-52307000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:52303600-52325400	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:52303800-52307000	Weak transcription	Placenta	Placenta
6	chr19:52303800-52307200	Weak transcription	Gastric	stomach
7	chr19:52303800-52309200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:52304000-52307000	Weak transcription	Adipose Nuclei	Adipose
9	chr19:52304000-52307000	Weak transcription	HepG2	liver
10	chr19:52304000-52307800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:52304000-52308000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:52304000-52310400	Weak transcription	Right Ventricle	heart
13	chr19:52304200-52310200	Weak transcription	Fetal Lung	lung
14	chr19:52304400-52308000	Weak transcription	Fetal Heart	heart
15	chr19:52305000-52310600	Weak transcription	Ovary	ovary
16	chr19:52305400-52306800	ZNF genes & repeats	K562	blood
17	chr19:52305600-52307200	Weak transcription	Right Atrium	heart
18	chr19:52305800-52308000	Weak transcription	Left Ventricle	heart
19	chr19:52306400-52306800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr19:52306400-52316600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr19:52306600-52307400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr19:52306800-52307200	Enhancers	Primary B cells from cord blood	blood
23	chr19:52306800-52307200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:52306800-52307400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:52306800-52307600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:52306800-52307800	Enhancers	K562	blood
27	chr19:52307000-52307200	Enhancers	Adipose Nuclei	Adipose
28	chr19:52307000-52307400	ZNF genes & repeats	HepG2	liver
29	chr19:52307000-52307600	Enhancers	Primary B cells from peripheral blood	blood
30	chr19:52307000-52307600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:52307000-52315200	Enhancers	Placenta	Placenta
32	chr19:52307200-52307400	Enhancers	Right Atrium	heart
33	chr19:52307200-52307600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:52307200-52313000	Weak transcription	Adipose Nuclei	Adipose
35	chr19:52307400-52307600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:52307400-52307800	Weak transcription	Right Atrium	heart
37	chr19:52307400-52308000	Weak transcription	HepG2	liver
38	chr19:52307400-52310000	Enhancers	Dnd41	blood
39	chr19:52307600-52307800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr19:52307600-52308200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:52307600-52309000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:52307800-52308400	Enhancers	Right Atrium	heart
43	chr19:52307800-52308600	Flanking Active TSS	K562	blood
44	chr19:52307800-52309200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr19:52307800-52309600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:52308000-52308200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:52308000-52308400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:52308000-52308400	Enhancers	Fetal Heart	heart
49	chr19:52308000-52308400	Enhancers	Left Ventricle	heart
50	chr19:52308000-52312400	Enhancers	HepG2	liver

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