Variant report

Variant	nsv912114
Chromosome Location	chr19:44858776-45002563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2312)
CpG islands
(count:2139)
Chromatin interactive
region (count:47)
LncRNA
region (count:33)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2312 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:44959425-44959428	K562	blood:	n/a	n/a
2	ARID3A	chr19:44981874-44982087	K562	blood:	n/a	n/a
3	ARID3A	chr19:44860835-44861069	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:44961266-44961467	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:44959543-44959576	HepG2	liver:	n/a	n/a
6	ARID3A	chr19:44981619-44981983	HepG2	liver:	n/a	n/a
7	ATF1	chr19:44905595-44905930	K562	blood:	n/a	n/a
8	ATF1	chr19:44860821-44861048	K562	blood:	n/a	n/a
9	ATF1	chr19:44861728-44861911	K562	blood:	n/a	n/a
10	ATF1	chr19:44952523-44952910	K562	blood:	n/a	n/a
11	ATF1	chr19:44871198-44871556	K562	blood:	n/a	n/a
12	ATF1	chr19:44875907-44876237	K562	blood:	n/a	n/a
13	ATF1	chr19:44959544-44959572	K562	blood:	n/a	n/a
14	ATF1	chr19:44935214-44935308	K562	blood:	n/a	n/a
15	ATF1	chr19:44917786-44917800	K562	blood:	n/a	n/a
16	ATF3	chr19:44952496-44952919	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr19:44980461-44981688	A549	lung:	n/a	n/a
18	ATF3	chr19:44980550-44981751	A549	lung:	n/a	n/a
19	ATF3	chr19:44952626-44952847	K562	blood:	n/a	n/a
20	BACH1	chr19:44980728-44981154	K562	blood:	n/a	n/a
21	BACH1	chr19:44870602-44870694	K562	blood:	n/a	n/a
22	BACH1	chr19:44922683-44922689	K562	blood:	n/a	n/a
23	BACH1	chr19:44980328-44980464	K562	blood:	n/a	n/a
24	BACH1	chr19:44917598-44917627	K562	blood:	n/a	n/a
25	BATF	chr19:44961157-44961637	GM12878	blood:	n/a	n/a
26	BATF	chr19:44913944-44914161	GM12878	blood:	n/a	n/a
27	BATF	chr19:44962217-44962393	GM12878	blood:	n/a	n/a
28	BATF	chr19:44914516-44914833	GM12878	blood:	n/a	n/a
29	BATF	chr19:44919167-44919405	GM12878	blood:	n/a	n/a
30	BATF	chr19:44917710-44918004	GM12878	blood:	n/a	n/a
31	BATF	chr19:44961839-44962104	GM12878	blood:	n/a	n/a
32	BATF	chr19:44913233-44913633	GM12878	blood:	n/a	n/a
33	BATF	chr19:44913634-44913897	GM12878	blood:	n/a	n/a
34	BATF	chr19:44919764-44919964	GM12878	blood:	n/a	n/a
35	BATF	chr19:44918320-44918533	GM12878	blood:	n/a	n/a
36	BATF	chr19:44914833-44915116	GM12878	blood:	n/a	n/a
37	BATF	chr19:44919536-44919764	GM12878	blood:	n/a	n/a
38	BATF	chr19:44918337-44918531	GM12878	blood:	n/a	n/a
39	BATF	chr19:44962163-44962380	GM12878	blood:	n/a	n/a
40	BATF	chr19:44920132-44920324	GM12878	blood:	n/a	n/a
41	BATF	chr19:44916804-44917060	GM12878	blood:	n/a	n/a
42	BATF	chr19:44914580-44914824	GM12878	blood:	n/a	n/a
43	BATF	chr19:44961864-44962043	GM12878	blood:	n/a	n/a
44	BATF	chr19:44913939-44914167	GM12878	blood:	n/a	n/a
45	BATF	chr19:44960738-44961057	GM12878	blood:	n/a	n/a
46	BATF	chr19:44963319-44963547	GM12878	blood:	n/a	n/a
47	BATF	chr19:44963064-44963764	GM12878	blood:	n/a	n/a
48	BATF	chr19:44963063-44963315	GM12878	blood:	n/a	n/a
49	BATF	chr19:44919486-44919761	GM12878	blood:	n/a	n/a
50	BATF	chr19:44913406-44913874	GM12878	blood:	n/a	n/a

(count:2139 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44864843-44864893	HepG2	liver:	n/a
2	chr19:44952618-44952668	HEK293	kidney:	embryo
3	chr19:44952572-44952622	MCF10A-Er-Src	breast:	n/a
4	chr19:44931222-44931272	MCF-7	breast:	n/a
5	chr19:44864843-44864893	HepG2	liver:	n/a
6	chr19:44952618-44952668	HEK293	kidney:	embryo
7	chr19:44952572-44952622	MCF10A-Er-Src	breast:	n/a
8	chr19:44931222-44931272	MCF-7	breast:	n/a
9	chr19:44953982-44954032	Caco-2	colon:	n/a
10	chr19:44905882-44905932	AG10803	skin:	n/a
11	chr19:44891400-44891450	PFSK-1	brain:	n/a
12	chr19:44905343-44905393	AG10803	skin:	n/a
13	chr19:44953982-44954032	AoSMC	blood vessel:	n/a
14	chr19:44952572-44952622	HEEpiC	esophagus:	n/a
15	chr19:45001471-45001521	NHDF-neo	bronchial:	n/a
16	chr19:44890183-44890233	T-47D	breast:	n/a
17	chr19:44952766-44952816	ECC-1	luminal epithelium:	n/a
18	chr19:44891400-44891450	HNPCEpiC	eye:	n/a
19	chr19:44905916-44905966	PrEC	prostate:	n/a
20	chr19:44858848-44858898	GM12878	blood:	n/a
21	chr19:44952730-44952780	H1-hESC	embryonic stem cell:	embryo
22	chr19:44932260-44932310	PFSK-1	brain:	n/a
23	chr19:44905343-44905393	BJ	skin:	n/a
24	chr19:44861241-44861291	SK-N-SH_RA	brain:	n/a
25	chr19:44905980-44906030	BJ	skin:	n/a
26	chr19:44905828-44905878	HL-60	blood:	n/a
27	chr19:44952808-44952858	HIPEpiC	eye:	n/a
28	chr19:44952604-44952654	NB4	blood:	n/a
29	chr19:44905828-44905878	ProgFib	skin:	n/a
30	chr19:44864843-44864893	GM12878	blood:	n/a
31	chr19:44891400-44891450	HCM	heart:	n/a
32	chr19:44905828-44905878	HCT-116	colon:	n/a
33	chr19:44905782-44905832	A549	lung:	n/a
34	chr19:44905782-44905832	Hela-S3	cervix:	n/a
35	chr19:44890183-44890233	SK-N-SH_RA	brain:	n/a
36	chr19:44905343-44905393	HCF	heart:	n/a
37	chr19:44906522-44906572	RPTEC	kidney:	n/a
38	chr19:44905828-44905878	T-47D	breast:	n/a
39	chr19:45001471-45001521	HepG2	liver:	n/a
40	chr19:44905343-44905393	Hepatocyte	liver:	n/a
41	chr19:44956065-44956115	HPAEpiC	pulmonary alveolar:	n/a
42	chr19:44952604-44952654	SAEC	small airway:	n/a
43	chr19:44891400-44891450	IMR90	lung:	fetal
44	chr19:44905343-44905393	SAEC	small airway:	n/a
45	chr19:44952618-44952668	SK-N-SH	brain:	n/a
46	chr19:44953982-44954032	BE2_C	brain:	n/a
47	chr19:44953377-44953427	U87	brain:	n/a
48	chr19:44861154-44861204	ProgFib	skin:	n/a
49	chr19:44953982-44954032	HRCEpiC	kidney:	n/a
50	chr19:44952730-44952780	AG09319	gingival:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44999410..45002615-chr19:45002996..45005888,4	K562	blood:
2	chr19:44997908..45002641-chr19:45002925..45005659,8	MCF-7	breast:
3	chr19:44943302..44945039-chr19:44949039..44951597,2	MCF-7	breast:
4	chr19:44932216..44933778-chr19:44935937..44937487,2	MCF-7	breast:
5	chr19:44932216..44933778-chr19:44935937..44937487,2	MCF-7	breast:
6	chr19:44858590..44859395-chr2:133106608..133107319,5	MCF-7	breast:
7	chr19:44941423..44943869-chr19:44947152..44949431,2	K562	blood:
8	chr19:44943302..44945039-chr19:44949039..44951597,2	MCF-7	breast:
9	chr19:44969208..44972041-chr19:44979244..44981448,2	K562	blood:
10	chr19:44927888..44930648-chr19:44931223..44933120,2	MCF-7	breast:
11	chr19:44860583..44861870-chr2:133104308..133105302,7	Hela-S3	cervix:
12	chr19:44858582..44859085-chr2:133106403..133107293,2	K562	blood:
13	chr19:44699013..44701606-chr19:44950381..44952368,2	MCF-7	breast:
14	chr19:44969208..44972041-chr19:44979244..44981448,2	K562	blood:
15	chr19:44928515..44931460-chr19:44942869..44945862,2	MCF-7	breast:
16	chr19:44927888..44930648-chr19:44931223..44933120,2	MCF-7	breast:
17	chr19:44858569..44859729-chr2:133105937..133107575,6	MCF-7	breast:
18	chr19:44763163..44765702-chr19:44978103..44979674,2	MCF-7	breast:
19	chr19:44941423..44943869-chr19:44947152..44949431,2	K562	blood:
20	chr19:44993270..44996512-chr19:44998152..45001010,3	MCF-7	breast:
21	chr19:44942698..44944302-chr19:44948026..44950274,2	MCF-7	breast:
22	chr19:44928515..44931460-chr19:44942869..44945862,2	MCF-7	breast:
23	chr19:44895650..44897507-chr2:133068550..133071124,2	MCF-7	breast:
24	chr19:44945678..44948451-chr19:44948958..44951509,3	MCF-7	breast:
25	chr19:44860567..44861162-chr2:133104579..133105358,2	MCF-7	breast:
26	chr19:44931433..44933674-chr19:44935471..44937509,2	K562	blood:
27	chr19:44997533..44999316-chr19:45001592..45004032,2	K562	blood:
28	chr19:44953043..44955061-chr19:44987589..44989582,2	MCF-7	breast:
29	chr19:44644669..44647100-chr19:44951741..44953337,2	K562	blood:
30	chr19:44859033..44861169-chr2:133104533..133106354,2	K562	blood:
31	chr19:44945678..44948451-chr19:44948958..44951509,3	MCF-7	breast:
32	chr19:44983712..44985391-chr19:44995000..44997386,2	K562	blood:
33	chr19:44953043..44955061-chr19:44987589..44989582,2	MCF-7	breast:
34	chr19:44860226..44861181-chr2:133104577..133105347,5	HCT-116	colon:
35	chr19:44716323..44716954-chr19:44860163..44860822,2	MCF-7	breast:
36	chr19:44948832..44950622-chr19:44950941..44952860,2	MCF-7	breast:
37	chr19:44951129..44953008-chr19:44953398..44957398,3	K562	blood:
38	chr19:44948274..44949784-chr19:44952417..44953969,2	MCF-7	breast:
39	chr19:44997533..44999316-chr19:45001592..45004032,2	K562	blood:
40	chr19:44983712..44985391-chr19:44995000..44997386,2	K562	blood:
41	chr19:44931433..44933674-chr19:44935471..44937509,2	K562	blood:
42	chr19:44993270..44996512-chr19:44998152..45001010,3	MCF-7	breast:
43	chr19:44765918..44767537-chr19:44979922..44981810,2	MCF-7	breast:
44	chr19:44934142..44937093-chr6:166254130..166255662,2	MCF-7	breast:
45	chr19:44942698..44944302-chr19:44948026..44950274,2	MCF-7	breast:
46	chr19:44967312..44967831-chr5:149821872..149822600,2	HCT-116	colon:
47	chr19:44687900..44689618-chr19:45001604..45004492,2	K562	blood:

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF233-1	chr19:44861873-44861914	ucscGeneNc_uc002omd_1
2	lnc-ZNF180-3	chr19:45001336-45001429	NONHSAT066701
3	lnc-ZNF233-1	chr19:44865967-44867731	NONHSAT066692
4	lnc-ZNF233-1	chr19:44863913-44863989	NONHSAT066691
5	lnc-ZNF233-1	chr19:44865967-44867898	NONHSAT066691
6	lnc-ZNF233-1	chr19:44861854-44861914	NONHSAT066691
7	lnc-ZNF229-1	chr19:44946998-44947208	NONHSAT066697
8	lnc-ZNF180-3	chr19:45000609-45000726	NONHSAT066701
9	lnc-ZNF229-1	chr19:44952497-44952640	ENSG00000267188.1
10	lnc-ZNF180-3	chr19:45001336-45001424	NONHSAT066702
11	lnc-ZNF180-3	chr19:44983627-44983696	NONHSAT066700
12	lnc-ZNF229-1	chr19:44900827-44901421	NONHSAT066696
13	lnc-ZNF229-1	chr19:44901364-44901421	ENSG00000267188.1
14	lnc-ZNF233-1	chr19:44865967-44867898	ucscGeneNc_uc002omd_1
15	lnc-ZNF233-1	chr19:44867724-44867898	NONHSAT066694
16	lnc-ZNF229-1	chr19:44921685-44921712	NONHSAT066697
17	lnc-ZNF229-1	chr19:44896603-44896630	ENSG00000267188.1
18	lnc-ZNF229-1	chr19:44951701-44951788	NONHSAT066697
19	lnc-ZNF229-1	chr19:44946747-44946805	NONHSAT066697
20	lnc-ZNF233-1	chr19:44868665-44868848	NONHSAT066691
21	lnc-ZNF233-1	chr19:44864478-44864688	NONHSAT066691
22	lnc-ZNF229-1	chr19:44951701-44951788	ENSG00000267188.1
23	lnc-ZNF180-3	chr19:45000609-45000730	NONHSAT066702
24	lnc-ZNF233-1	chr19:44876944-44877057	NONHSAT066694
25	lnc-ZNF229-1	chr19:44952497-44952660	NONHSAT066697
26	lnc-ZNF233-1	chr19:44861873-44861914	NONHSAT066692
27	lnc-ZNF180-3	chr19:45001336-45001429	NONHSAT066700
28	lnc-ZNF233-1	chr19:44868036-44868132	NONHSAT066691
29	lnc-ZNF229-1	chr19:44947012-44947208	ENSG00000267188.1
30	lnc-ZNF180-4	chr19:44978645-44979403	ENSG00000267242.1
31	lnc-ZNF229-1	chr19:44946747-44946805	ENSG00000267188.1
32	lnc-ZNF180-3	chr19:44988572-44988646	NONHSAT066700
33	lnc-ZNF229-1	chr19:44905734-44905767	NONHSAT066696

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF180	hsa-miR-93-5p	chr19:44980352-44980374

Variant related genes	Relation type
ENSG00000267188	TF binding region
ZNF229	TF binding region
ENSG00000267173	TF binding region
ZNF285B	TF binding region
ENSG00000267242	TF binding region
ZNF285	TF binding region
ZNF112	TF binding region
ENSG00000267188	CpG island
ZNF229	CpG island
ENSG00000267173	CpG island
ZNF285B	CpG island
ENSG00000267242	CpG island
ZNF285	CpG island
ZNF112	CpG island
ENSG00000267188	chromatin interactions
ENSG00000176761	chromatin interactions
ENSG00000272769	chromatin interactions
ENSG00000167384	chromatin interactions
ENSG00000263002	chromatin interactions
ENSG00000267242	chromatin interactions
ENSG00000131115	chromatin interactions
ENSG00000159915	chromatin interactions
ENSG00000167383	chromatin interactions

Extended variants
information (count: 6370 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:6370 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2571063	chr19:44858776-44858777	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184363658	chr19:44858782-44858783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs58216091	chr19:44858806-44858807	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558354667	chr19:44858811-44858812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142850590	chr19:44858820-44858821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369316006	chr19:44858832-44858833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs151067085	chr19:44858848-44858849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142470502	chr19:44858852-44858853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574396638	chr19:44858853-44858854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543384002	chr19:44858868-44858869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs1836273	chr19:44858873-44858874	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112465586	chr19:44858877-44858878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2571064	chr19:44858880-44858881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111252947	chr19:44858916-44858917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs115605514	chr19:44858998-44858999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201410334	chr19:44859030-44859031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181414283	chr19:44859034-44859035	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145435699	chr19:44859045-44859046	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528643560	chr19:44859047-44859048	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76137403	chr19:44859065-44859066	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548639232	chr19:44859069-44859070	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148002536	chr19:44859119-44859120	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530846412	chr19:44859144-44859145	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190809178	chr19:44859172-44859173	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201236522	chr19:44859190-44859191	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550579492	chr19:44859199-44859200	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570486595	chr19:44859245-44859246	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529339714	chr19:44859283-44859284	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370134109	chr19:44859286-44859287	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184446308	chr19:44859296-44859297	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373438749	chr19:44859332-44859333	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149567953	chr19:44859353-44859354	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377435147	chr19:44859393-44859394	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547854474	chr19:44859462-44859463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566066933	chr19:44859464-44859465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534111958	chr19:44859469-44859470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565777675	chr19:44859475-44859476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148169033	chr19:44859477-44859478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534814113	chr19:44859528-44859529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201438341	chr19:44859532-44859533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188956460	chr19:44859537-44859538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181645679	chr19:44859595-44859596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186299007	chr19:44859637-44859638	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2722739	chr19:44859645-44859646	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200878766	chr19:44859674-44859675	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191967013	chr19:44859685-44859686	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140085005	chr19:44859715-44859716	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545921722	chr19:44859760-44859761	Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559478945	chr19:44859812-44859813	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371394810	chr19:44859842-44859843	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2551 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44840800-44860000	Weak transcription	NHDF-Ad	bronchial
2	chr19:44844200-44859600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:44844200-44859800	Weak transcription	Osteobl	bone
4	chr19:44845000-44860000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:44845200-44860000	Weak transcription	HSMM	muscle
6	chr19:44845400-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:44849600-44859800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:44850400-44860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44850400-44860200	Weak transcription	Left Ventricle	heart
10	chr19:44851400-44860400	Weak transcription	Aorta	Aorta
11	chr19:44852600-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:44854400-44860000	Weak transcription	Ovary	ovary
13	chr19:44854800-44860000	Weak transcription	Pancreas	Pancrea
14	chr19:44855000-44859600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:44855400-44860000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:44855600-44860000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:44855800-44860000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:44856200-44859200	Weak transcription	HMEC	breast
19	chr19:44856600-44859800	Weak transcription	Brain Anterior Caudate	brain
20	chr19:44857000-44859800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:44857800-44859800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:44858000-44859200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:44858000-44859200	ZNF genes & repeats	A549	lung
24	chr19:44858400-44859600	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:44858800-44859200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:44858800-44859200	ZNF genes & repeats	Liver	Liver
27	chr19:44858800-44859400	ZNF genes & repeats	Fetal Lung	lung
28	chr19:44859000-44859400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:44859000-44859800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:44859200-44859600	Weak transcription	Liver	Liver
31	chr19:44859200-44859800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:44859200-44859800	Weak transcription	A549	lung
33	chr19:44859200-44859800	Enhancers	HMEC	breast
34	chr19:44859200-44860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:44859400-44859600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:44859400-44859600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:44859400-44859600	Enhancers	NHEK	skin
38	chr19:44859400-44859800	Weak transcription	Fetal Lung	lung
39	chr19:44859600-44859800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:44859600-44859800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:44859600-44859800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:44859600-44859800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:44859600-44859800	Active TSS	Liver	Liver
44	chr19:44859600-44859800	Enhancers	Brain Angular Gyrus	brain
45	chr19:44859600-44859800	Enhancers	Brain Cingulate Gyrus	brain
46	chr19:44859600-44859800	Enhancers	Brain Hippocampus Middle	brain
47	chr19:44859600-44859800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr19:44859600-44859800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr19:44859600-44859800	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr19:44859600-44860000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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