Variant report

Variant	nsv960929
Chromosome Location	chr19:41430458-41446756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:41434897-41435097	K562	blood:	n/a	n/a
2	BACH1	chr19:41437946-41438301	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr19:41430483-41430507	K562	blood:	n/a	n/a
4	BACH1	chr19:41437956-41438260	K562	blood:	n/a	n/a
5	CCNT2	chr19:41434884-41435092	K562	blood:	n/a	n/a
6	CEBPB	chr19:41446714-41446729	A549	lung:	n/a	n/a
7	CEBPB	chr19:41434742-41435118	K562	blood:	n/a	n/a
8	CEBPB	chr19:41430620-41430805	K562	blood:	n/a	n/a
9	CEBPB	chr19:41438908-41439279	K562	blood:	n/a	n/a
10	CEBPB	chr19:41434826-41435086	K562	blood:	n/a	n/a
11	CEBPB	chr19:41430599-41430915	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:41438982-41439268	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr19:41434755-41435152	K562	blood:	n/a	n/a
14	CEBPB	chr19:41438733-41439296	A549	lung:	n/a	n/a
15	CEBPB	chr19:41430580-41430916	A549	lung:	n/a	n/a
16	CEBPB	chr19:41438614-41439244	K562	blood:	n/a	n/a
17	CTCF	chr19:41438980-41439130	HCT-116	colon:	n/a	n/a
18	CTCF	chr19:41439060-41439210	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr19:41439040-41439190	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr19:41439080-41439230	AG09319	gingival:	n/a	n/a
21	CTCF	chr19:41438980-41439259	K562	blood:	n/a	n/a
22	CTCF	chr19:41438940-41439090	HVMF	connective:	n/a	n/a
23	CTCF	chr19:41439060-41439210	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr19:41439073-41439165	GM12892	blood:	n/a	n/a
25	CTCF	chr19:41438960-41439110	GM12865	blood:	n/a	n/a
26	CTCF	chr19:41439020-41439170	WI-38	lung:	n/a	n/a
27	CTCF	chr19:41439018-41439217	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:41439028-41439194	MCF-7	breast:	n/a	n/a
29	CTCF	chr19:41439058-41439159	GM19239	blood:	n/a	n/a
30	CTCF	chr19:41438861-41439330	HCT-116	colon:	n/a	n/a
31	CTCF	chr19:41439020-41439170	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr19:41439100-41439250	HCT-116	colon:	n/a	n/a
33	CTCF	chr19:41439043-41439217	HepG2	liver:	n/a	n/a
34	CTCF	chr19:41439063-41439170	GM19238	blood:	n/a	n/a
35	CTCF	chr19:41439054-41439189	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:41438911-41439324	A549	lung:	n/a	n/a
37	CTCF	chr19:41439139-41439165	IMR90	lung:	n/a	n/a
38	CTCF	chr19:41439160-41439310	HVMF	connective:	n/a	n/a
39	CTCF	chr19:41439060-41439210	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr19:41439047-41439192	NHEK	skin:	n/a	n/a
41	CTCF	chr19:41439020-41439170	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr19:41438960-41439110	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr19:41439091-41439167	Fibrobl	skin:	n/a	n/a
44	CTCF	chr19:41437960-41438110	K562	blood:	n/a	n/a
45	CTCF	chr19:41439080-41439230	NHEK	skin:	n/a	n/a
46	CTCF	chr19:41439040-41439186	MCF-7	breast:	n/a	n/a
47	CTCF	chr19:41439013-41439239	A549	lung:	n/a	n/a
48	CTCF	chr19:41439037-41439202	A549	lung:	n/a	n/a
49	CTCF	chr19:41439036-41439166	GM12878	blood:	n/a	n/a
50	CTCF	chr19:41439057-41439178	Medullo	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41433604..41436108-chr19:41440713..41443622,2	MCF-7	breast:
2	chr19:41435849..41437489-chr19:41440022..41442246,2	MCF-7	breast:
3	chr19:41436490..41439337-chr19:41447432..41449781,2	MCF-7	breast:
4	chr19:41433604..41436108-chr19:41440713..41443622,2	MCF-7	breast:
5	chr19:41444451..41445965-chr19:41446160..41448128,2	MCF-7	breast:
6	chr19:41435849..41437489-chr19:41440022..41442246,2	MCF-7	breast:
7	chr19:41438993..41440711-chr19:41442295..41445002,2	MCF-7	breast:
8	chr19:41303143..41305588-chr19:41428304..41431722,3	MCF-7	breast:
9	chr19:41303781..41306051-chr19:41433024..41435492,2	MCF-7	breast:
10	chr19:41400931..41403268-chr19:41432541..41435329,2	K562	blood:
11	chr19:41429883..41432599-chr19:41435321..41438137,2	MCF-7	breast:
12	chr19:41438993..41440711-chr19:41442295..41445002,2	MCF-7	breast:

No data

Variant related genes	Relation type
CYP2B7P	TF binding region
ENSG00000269858	chromatin interactions
ENSG00000256612	chromatin interactions

Extended variants
information (count: 701 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565895057	chr19:41430472-41430473	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184739211	chr19:41430519-41430520	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548545633	chr19:41430590-41430591	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112298484	chr19:41430601-41430602	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs386809304	chr19:41430610-41430611	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116257965	chr19:41430611-41430612	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116740487	chr19:41430614-41430615	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571743358	chr19:41430633-41430634	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536710747	chr19:41430779-41430780	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373555271	chr19:41430786-41430787	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549167012	chr19:41430796-41430797	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535075285	chr19:41430801-41430802	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553516239	chr19:41430861-41430862	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574878134	chr19:41430862-41430863	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187892246	chr19:41430877-41430878	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192989033	chr19:41430889-41430890	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575459223	chr19:41430940-41430941	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185233790	chr19:41430969-41430970	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545798377	chr19:41430984-41430985	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563689205	chr19:41430985-41430986	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528083920	chr19:41431006-41431007	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546230607	chr19:41431018-41431019	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561442540	chr19:41431020-41431021	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529006901	chr19:41431037-41431038	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189705876	chr19:41431057-41431058	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553422521	chr19:41431064-41431065	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570171301	chr19:41431115-41431116	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139824235	chr19:41431146-41431147	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12459860	chr19:41431157-41431158	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs570820901	chr19:41431217-41431218	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111962449	chr19:41431277-41431278	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553452705	chr19:41431282-41431283	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181179505	chr19:41431297-41431298	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117697721	chr19:41431339-41431340	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183673566	chr19:41431350-41431351	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112535179	chr19:41431361-41431362	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117003870	chr19:41431371-41431372	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2545759	chr19:41431380-41431381	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147885656	chr19:41431392-41431393	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564030783	chr19:41431419-41431420	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs57274441	chr19:41431422-41431423	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139888711	chr19:41431440-41431441	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs145281245	chr19:41431456-41431457	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561881678	chr19:41431460-41431461	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528950623	chr19:41431553-41431554	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550426487	chr19:41431591-41431592	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs145101987	chr19:41431601-41431602	Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11671237	chr19:41431602-41431603	Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143157270	chr19:41431618-41431619	Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180823491	chr19:41431635-41431636	Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41428000-41430800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr19:41429000-41434200	Weak transcription	K562	blood
3	chr19:41429200-41434600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:41429600-41430600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:41429600-41430800	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr19:41429600-41430800	Enhancers	Gastric	stomach
7	chr19:41430200-41430800	Flanking Active TSS	Fetal Intestine Large	intestine
8	chr19:41430200-41433200	Active TSS	Lung	lung
9	chr19:41430400-41430600	Active TSS	Liver	Liver
10	chr19:41430400-41430600	Flanking Bivalent TSS/Enh	A549	lung
11	chr19:41430400-41430800	Enhancers	Stomach Mucosa	stomach
12	chr19:41430400-41432800	Active TSS	Fetal Intestine Small	intestine
13	chr19:41430600-41430800	Flanking Active TSS	Liver	Liver
14	chr19:41430600-41430800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr19:41430600-41430800	Bivalent Enhancer	A549	lung
16	chr19:41430600-41430800	Enhancers	Hela-S3	cervix
17	chr19:41430600-41432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:41430800-41431400	Enhancers	Duodenum Mucosa	Duodenum
19	chr19:41430800-41431600	Active TSS	Liver	Liver
20	chr19:41430800-41432800	Active TSS	Fetal Intestine Large	intestine
21	chr19:41431600-41432000	Flanking Active TSS	Liver	Liver
22	chr19:41432000-41432200	Enhancers	Liver	Liver
23	chr19:41432200-41447600	Weak transcription	Liver	Liver
24	chr19:41432400-41432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:41432600-41433000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:41432600-41434600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:41432800-41433000	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr19:41432800-41433200	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr19:41433000-41435200	Enhancers	Fetal Intestine Small	intestine
30	chr19:41433000-41437800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:41433200-41434400	Enhancers	Fetal Intestine Large	intestine
32	chr19:41434200-41434400	Bivalent Enhancer	A549	lung
33	chr19:41434200-41436000	Enhancers	K562	blood
34	chr19:41434400-41434800	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr19:41434600-41435000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:41434600-41435000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:41434800-41436200	Enhancers	Fetal Intestine Large	intestine
38	chr19:41435000-41435600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:41435200-41435400	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr19:41435400-41436200	Enhancers	Fetal Intestine Small	intestine
41	chr19:41436000-41437600	Weak transcription	K562	blood
42	chr19:41436200-41436600	Weak transcription	Fetal Intestine Small	intestine
43	chr19:41436200-41437800	Weak transcription	Fetal Intestine Large	intestine
44	chr19:41436600-41437000	Strong transcription	Fetal Intestine Small	intestine
45	chr19:41437000-41437800	Weak transcription	Fetal Intestine Small	intestine
46	chr19:41437600-41438000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr19:41437600-41439800	Enhancers	K562	blood
48	chr19:41437800-41438000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr19:41437800-41438000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:41437800-41438200	Genic enhancers	Fetal Intestine Small	intestine

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