Variant report

Variant	nsv960760
Chromosome Location	chr19:36075284-36088001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr19:36087526-36087876	GM12878	blood:	n/a	n/a
2	CHD2	chr19:36087343-36087588	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr19:36087280-36087869	GM12878	blood:	n/a	n/a
4	CREB1	chr19:36087233-36087905	GM12878	blood:	n/a	n/a
5	CTCF	chr19:36083280-36083430	GM12868	blood:	n/a	chr19:36083395-36083403
6	CTCF	chr19:36083040-36083190	GM12870	blood:	n/a	n/a
7	CTCF	chr19:36082931-36083694	A549	lung:	n/a	chr19:36083395-36083403
8	CTCF	chr19:36083260-36083410	AoAF	blood vessel:	n/a	chr19:36083395-36083403
9	CTCF	chr19:36083380-36083530	A549	lung:	n/a	chr19:36083395-36083403
10	CTCF	chr19:36083280-36083430	GM12867	blood:	n/a	chr19:36083395-36083403
11	CTCF	chr19:36083115-36083522	MCF-7	breast:	n/a	chr19:36083395-36083403
12	CTCF	chr19:36083260-36083410	SK-N-SH_RA	brain:	n/a	chr19:36083395-36083403
13	CTCF	chr19:36083320-36083470	HMEC	breast:	n/a	chr19:36083395-36083403
14	CTCF	chr19:36083300-36083450	HMEC	breast:	n/a	chr19:36083395-36083403
15	CTCF	chr19:36083290-36083460	LNCaP	prostate:	n/a	chr19:36083395-36083403
16	CTCF	chr19:36083320-36083470	HUVEC	blood vessel:	n/a	chr19:36083395-36083403
17	CTCF	chr19:36083340-36083490	NHDF-neo	bronchial:	n/a	chr19:36083395-36083403
18	CTCF	chr19:36083300-36083450	MCF-7	breast:	n/a	chr19:36083395-36083403
19	CTCF	chr19:36083300-36083450	HUVEC	blood vessel:	n/a	chr19:36083395-36083403
20	CTCF	chr19:36083200-36083350	BE2_C	brain:	n/a	n/a
21	CTCF	chr19:36083240-36083390	HAc	cerebellar:	n/a	n/a
22	CTCF	chr19:36083240-36083390	K562	blood:	n/a	n/a
23	CTCF	chr19:36083300-36083450	GM12871	blood:	n/a	chr19:36083395-36083403
24	CTCF	chr19:36083320-36083470	GM12872	blood:	n/a	chr19:36083395-36083403
25	CTCF	chr19:36083300-36083450	GM12864	blood:	n/a	chr19:36083395-36083403
26	CTCF	chr19:36083260-36083410	GM12873	blood:	n/a	chr19:36083395-36083403
27	CTCF	chr19:36083257-36083464	GM13976	blood:	n/a	chr19:36083395-36083403
28	CTCF	chr19:36083260-36083410	SAEC	small airway:	n/a	chr19:36083395-36083403
29	CTCF	chr19:36083240-36083390	BJ	skin:	n/a	n/a
30	CTCF	chr19:36083255-36083417	MCF-7	breast:	n/a	chr19:36083395-36083403
31	CTCF	chr19:36083240-36083390	GM12875	blood:	n/a	n/a
32	CTCF	chr19:36083260-36083410	WI-38	lung:	n/a	chr19:36083395-36083403
33	CTCF	chr19:36083240-36083390	HEK293	kidney:	n/a	n/a
34	CTCF	chr19:36083234-36083476	Medullo	brain:	n/a	chr19:36083395-36083403
35	CTCF	chr19:36083300-36083450	AoAF	blood vessel:	n/a	chr19:36083395-36083403
36	CTCF	chr19:36083171-36083501	ECC-1	luminal epithelium:	n/a	chr19:36083395-36083403
37	CTCF	chr19:36083254-36083408	MCF-7	breast:	n/a	chr19:36083395-36083403
38	CTCF	chr19:36079580-36079730	HepG2	liver:	n/a	n/a
39	CTCF	chr19:36083234-36083488	Hela-S3	cervix:	n/a	chr19:36083395-36083403
40	CTCF	chr19:36083320-36083470	GM12874	blood:	n/a	chr19:36083395-36083403
41	CTCF	chr19:36083244-36083472	Pancreas_OC	pancreas:	n/a	chr19:36083395-36083403
42	CTCF	chr19:36083280-36083430	GM12866	blood:	n/a	chr19:36083395-36083403
43	CTCF	chr19:36083280-36083430	AG04449	skin:	n/a	chr19:36083395-36083403
44	CTCF	chr19:36083262-36083452	A549	lung:	n/a	chr19:36083395-36083403
45	CTCF	chr19:36083026-36083595	HCT-116	colon:	n/a	chr19:36083395-36083403
46	CTCF	chr19:36083214-36083463	GM19239	blood:	n/a	chr19:36083395-36083403
47	CTCF	chr19:36083247-36083441	Kidney_OC	kidney:	n/a	chr19:36083395-36083403
48	CTCF	chr19:36083155-36083542	GM12878	blood:	n/a	chr19:36083395-36083403
49	CTCF	chr19:36083300-36083450	RPTEC	kidney:	n/a	chr19:36083395-36083403
50	CTCF	chr19:36083240-36083390	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36067921..36070468-chr19:36075361..36078340,2	K562	blood:
2	chr19:36000986..36002017-chr19:36082916..36083749,3	K562	blood:
3	chr19:36038779..36040888-chr19:36075958..36078322,2	MCF-7	breast:
4	chr19:36039748..36040983-chr19:36082888..36083867,5	MCF-7	breast:
5	chr19:36039594..36040725-chr19:36082916..36083449,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAUS5-2	chr19:36076827-36077259	NONHSAT065874
2	lnc-HAUS5-2	chr19:36077923-36078334	XLOC_013051
3	lnc-HAUS5-2	chr19:36077048-36077083	XLOC_013051
4	lnc-HAUS5-2	chr19:36077922-36078334	NONHSAT065874

Variant related genes	Relation type
ENSG00000224910	TF binding region
ENSG00000161249	chromatin interactions
TNPO1	miRNA target sites
PCDH9	miRNA target sites

Extended variants
information (count: 211 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573873630	chr19:36075633-36075634	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs542782419	chr19:36075688-36075689	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs559605712	chr19:36075708-36075709	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs528543201	chr19:36075759-36075760	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs545075409	chr19:36075788-36075789	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs546483135	chr19:36076808-36076809	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566647953	chr19:36076810-36076811	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370086695	chr19:36076832-36076833	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs567484035	chr19:36076838-36076839	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs149592707	chr19:36076884-36076885	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs183694585	chr19:36076915-36076916	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs537462764	chr19:36076953-36076954	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs547742388	chr19:36076955-36076956	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567621343	chr19:36076964-36076965	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs188020919	chr19:36076969-36076970	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs143111874	chr19:36076981-36076982	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs573371000	chr19:36076983-36076984	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs538786350	chr19:36076984-36076985	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs74392849	chr19:36076997-36076998	Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575776890	chr19:36077030-36077031	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
21	rs544628560	chr19:36077037-36077038	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
22	rs148248171	chr19:36077097-36077098	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
23	rs111983864	chr19:36077140-36077141	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
24	rs574824390	chr19:36077142-36077143	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
25	rs553780461	chr19:36077203-36077204	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs34183846	chr19:36077208-36077209	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560114755	chr19:36077214-36077215	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs532354820	chr19:36077221-36077222	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs552052478	chr19:36077222-36077223	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs141347027	chr19:36077223-36077224	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs201975165	chr19:36077229-36077230	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs144944215	chr19:36077230-36077231	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs147442310	chr19:36077295-36077296	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547826905	chr19:36077299-36077300	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557451823	chr19:36077309-36077310	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs139435859	chr19:36077356-36077357	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376843273	chr19:36077360-36077361	Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576133999	chr19:36077444-36077445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527651469	chr19:36077476-36077477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58198918	chr19:36077492-36077493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565893771	chr19:36077493-36077494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536578709	chr19:36077550-36077551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180785734	chr19:36077551-36077552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377474219	chr19:36077555-36077556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62109992	chr19:36077604-36077605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545024989	chr19:36077621-36077622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59630152	chr19:36077642-36077643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559156191	chr19:36077670-36077671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368195604	chr19:36077671-36077672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371257553	chr19:36077674-36077675	Weak transcription	n/a	n/a	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
Pleomorphic liposarcoma	18784837	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	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36075600-36075800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
2	chr19:36076800-36077000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
3	chr19:36076800-36077000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr19:36076800-36077000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr19:36076800-36077000	Bivalent Enhancer	Lung	lung
6	chr19:36076800-36077000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
7	chr19:36076800-36077200	Bivalent Enhancer	Placenta	Placenta
8	chr19:36076800-36077400	ZNF genes & repeats	Right Atrium	heart
9	chr19:36077000-36077200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:36077000-36077400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:36077200-36077400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:36077200-36078200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:36077800-36078000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:36077800-36080000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:36078000-36079000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:36078000-36079000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:36078200-36078400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:36079000-36079800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:36083200-36083400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:36083200-36083400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr19:36085800-36086000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr19:36087200-36087400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:36087200-36087600	Enhancers	GM12878-XiMat	blood
24	chr19:36087400-36088200	Enhancers	HepG2	liver
25	chr19:36087600-36088000	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links