Variant report

Variant	esv1830758
Chromosome Location	chr19:36760960-36799381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr19:36762836-36763037	HepG2	liver:	n/a	n/a
2	CBX3	chr19:36768844-36769134	K562	blood:	n/a	n/a
3	CBX3	chr19:36782055-36782327	K562	blood:	n/a	n/a
4	CBX3	chr19:36789665-36790026	K562	blood:	n/a	n/a
5	CBX3	chr19:36785308-36785504	K562	blood:	n/a	n/a
6	CBX3	chr19:36762724-36763179	K562	blood:	n/a	n/a
7	CBX3	chr19:36787829-36788041	K562	blood:	n/a	n/a
8	CBX3	chr19:36795732-36796004	K562	blood:	n/a	n/a
9	CBX3	chr19:36796036-36796224	K562	blood:	n/a	n/a
10	CHD2	chr19:36762837-36763034	HepG2	liver:	n/a	n/a
11	CTCF	chr19:36766770-36767062	K562	blood:	n/a	n/a
12	CTCF	chr19:36781989-36782277	K562	blood:	n/a	n/a
13	CTCF	chr19:36768891-36768914	GM13976	blood:	n/a	n/a
14	CTCF	chr19:36776957-36777216	K562	blood:	n/a	n/a
15	CTCF	chr19:36766850-36767038	K562	blood:	n/a	n/a
16	CTCF	chr19:36766816-36767091	K562	blood:	n/a	n/a
17	CTCF	chr19:36789628-36789877	K562	blood:	n/a	n/a
18	CTCF	chr19:36797216-36797420	K562	blood:	n/a	n/a
19	CTCF	chr19:36764224-36764534	K562	blood:	n/a	n/a
20	CTCF	chr19:36779400-36779893	K562	blood:	n/a	n/a
21	CTCF	chr19:36792105-36792428	K562	blood:	n/a	n/a
22	CTCF	chr19:36771880-36772177	K562	blood:	n/a	n/a
23	CTCF	chr19:36787024-36787440	K562	blood:	n/a	n/a
24	CTCF	chr19:36792079-36792467	K562	blood:	n/a	n/a
25	CTCF	chr19:36762860-36763010	GM12872	blood:	n/a	n/a
26	CTCF	chr19:36782010-36782281	K562	blood:	n/a	n/a
27	CTCF	chr19:36794674-36794939	K562	blood:	n/a	n/a
28	CTCF	chr19:36771886-36772289	K562	blood:	n/a	n/a
29	CTCF	chr19:36761749-36762043	K562	blood:	n/a	n/a
30	CTCF	chr19:36787079-36787301	K562	blood:	n/a	n/a
31	CTCF	chr19:36762993-36763034	GM12892	blood:	n/a	n/a
32	CTCF	chr19:36782028-36782324	K562	blood:	n/a	n/a
33	CTCF	chr19:36789490-36789986	K562	blood:	n/a	n/a
34	CTCF	chr19:36762880-36763030	GM12873	blood:	n/a	n/a
35	CTCF	chr19:36784469-36784882	K562	blood:	n/a	n/a
36	CTCF	chr19:36797154-36797521	K562	blood:	n/a	n/a
37	CTCF	chr19:36764243-36764639	K562	blood:	n/a	n/a
38	CTCF	chr19:36784523-36784856	K562	blood:	n/a	n/a
39	CTCF	chr19:36774392-36774650	K562	blood:	n/a	n/a
40	CTCF	chr19:36769229-36769752	K562	blood:	n/a	n/a
41	CTCF	chr19:36794609-36795061	K562	blood:	n/a	n/a
42	CTCF	chr19:36774404-36774622	K562	blood:	n/a	n/a
43	CTCF	chr19:36769382-36769596	K562	blood:	n/a	n/a
44	CTCF	chr19:36794664-36794881	K562	blood:	n/a	n/a
45	CTCF	chr19:36779440-36779728	K562	blood:	n/a	n/a
46	CTCF	chr19:36792132-36792443	K562	blood:	n/a	n/a
47	CTCF	chr19:36761779-36762037	K562	blood:	n/a	n/a
48	CTCF	chr19:36762860-36763010	HEK293	kidney:	n/a	n/a
49	CTCF	chr19:36779504-36779756	K562	blood:	n/a	n/a
50	CTCF	chr19:36776870-36777237	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36794212-36794262	HRCEpiC	kidney:	n/a
2	chr19:36794212-36794262	HepG2	liver:	n/a
3	chr19:36795950-36796000	GM12892	blood:	n/a
4	chr19:36764158-36764208	HPAEpiC	pulmonary alveolar:	n/a
5	chr19:36764158-36764208	HepG2	liver:	n/a
6	chr19:36763026-36763076	HAEpiC	amniotic membrane:	n/a
7	chr19:36795950-36796000	Hepatocyte	liver:	n/a
8	chr19:36795950-36796000	HRCEpiC	kidney:	n/a
9	chr19:36763026-36763076	HIPEpiC	eye:	n/a
10	chr19:36764158-36764208	HRPEpiC	eye:	n/a
11	chr19:36763026-36763076	HUVEC	blood vessel:	n/a
12	chr19:36764158-36764208	NT2-D1	testis:	n/a
13	chr19:36795950-36796000	HAEpiC	amniotic membrane:	n/a
14	chr19:36794212-36794262	NHBE	bronchial:	n/a
15	chr19:36763026-36763076	PFSK-1	brain:	n/a
16	chr19:36795950-36796000	HUVEC	blood vessel:	n/a
17	chr19:36764158-36764208	PrEC	prostate:	n/a
18	chr19:36764158-36764208	IMR90	lung:	fetal
19	chr19:36794212-36794262	AG04449	skin:	fetal
20	chr19:36794212-36794262	HCPEpiC	choroid plexus:	n/a
21	chr19:36764158-36764208	HCT-116	colon:	n/a
22	chr19:36795950-36796000	A549	lung:	n/a
23	chr19:36764158-36764208	NHBE	bronchial:	n/a
24	chr19:36794212-36794262	IMR90	lung:	fetal
25	chr19:36764158-36764208	SK-N-SH_RA	brain:	n/a
26	chr19:36763026-36763076	GM12878	blood:	n/a
27	chr19:36795950-36796000	ProgFib	skin:	n/a
28	chr19:36795950-36796000	SK-N-SH_RA	brain:	n/a
29	chr19:36795950-36796000	PFSK-1	brain:	n/a
30	chr19:36794212-36794262	GM12878	blood:	n/a
31	chr19:36794212-36794262	SK-N-MC	brain:	n/a
32	chr19:36763026-36763076	HEK293	kidney:	embryo
33	chr19:36764158-36764208	GM06990	blood:	n/a
34	chr19:36764158-36764208	GM12892	blood:	n/a
35	chr19:36794212-36794262	SKMC	muscle:	n/a
36	chr19:36763026-36763076	HNPCEpiC	eye:	n/a
37	chr19:36763026-36763076	HRPEpiC	eye:	n/a
38	chr19:36795950-36796000	AG04449	skin:	fetal
39	chr19:36764158-36764208	NH-A	brain:	n/a
40	chr19:36763026-36763076	RPTEC	kidney:	n/a
41	chr19:36764158-36764208	H1-hESC	embryonic stem cell:	embryo
42	chr19:36795950-36796000	ovcar-3	ovarian:	n/a
43	chr19:36763026-36763076	HMEC	breast:	n/a
44	chr19:36763026-36763076	HCT-116	colon:	n/a
45	chr19:36794212-36794262	H1-hESC	embryonic stem cell:	embryo
46	chr19:36794212-36794262	HPAEpiC	pulmonary alveolar:	n/a
47	chr19:36764158-36764208	NB4	blood:	n/a
48	chr19:36794212-36794262	HIPEpiC	eye:	n/a
49	chr19:36794212-36794262	Hela-S3	cervix:	n/a
50	chr19:36763026-36763076	K562	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000267053	TF binding region
ENSG00000267053	CpG island

Extended variants
information (count: 121 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200979920	chr19:36761046-36761047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3925972	chr19:36761076-36761077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201658674	chr19:36761080-36761081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199987073	chr19:36761294-36761295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191300969	chr19:36761319-36761320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183270556	chr19:36761525-36761526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202096618	chr19:36761574-36761575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573016568	chr19:36761587-36761588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373984401	chr19:36761596-36761597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563872741	chr19:36761605-36761606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111583185	chr19:36761933-36761934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368135467	chr19:36761958-36761959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62115211	chr19:36762109-36762110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540503942	chr19:36762129-36762130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561772133	chr19:36762133-36762134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs529248513	chr19:36762226-36762227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544342169	chr19:36762237-36762238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs562605445	chr19:36762254-36762255	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372366832	chr19:36762261-36762262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs3997470	chr19:36762271-36762272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533578389	chr19:36762280-36762281	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551656043	chr19:36762290-36762291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560855356	chr19:36762311-36762312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs368712284	chr19:36762478-36762479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528011213	chr19:36762491-36762492	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs372310900	chr19:36762508-36762509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs377314570	chr19:36762525-36762526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368775800	chr19:36762568-36762569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373410731	chr19:36762582-36762583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs549678354	chr19:36762634-36762635	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568102977	chr19:36762694-36762695	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370352635	chr19:36762701-36762702	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535398308	chr19:36762844-36762845	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112367333	chr19:36762845-36762846	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375599777	chr19:36762857-36762858	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3997446	chr19:36762870-36762871	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs568830947	chr19:36762878-36762879	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111905605	chr19:36762884-36762885	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557700549	chr19:36762893-36762894	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572969823	chr19:36762903-36762904	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373547139	chr19:36762928-36762929	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533887172	chr19:36762935-36762936	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555235086	chr19:36762967-36762968	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4806315	chr19:36762970-36762971	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192559385	chr19:36762985-36762986	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573708534	chr19:36762998-36762999	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74333801	chr19:36763027-36763028	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs374474795	chr19:36763029-36763030	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs562664295	chr19:36763039-36763040	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs62115213	chr19:36763047-36763048	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:60)

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
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
Breast cancer	21509527	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36748800-36762800	Weak transcription	Right Atrium	heart
2	chr19:36749200-36762800	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:36749200-36764800	Weak transcription	Brain Substantia Nigra	brain
4	chr19:36749400-36762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:36749400-36764200	Weak transcription	Brain Angular Gyrus	brain
6	chr19:36749600-36762600	Weak transcription	Brain Hippocampus Middle	brain
7	chr19:36749600-36763400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:36757400-36762600	Weak transcription	Psoas Muscle	Psoas
9	chr19:36757600-36762600	Weak transcription	Right Ventricle	heart
10	chr19:36757800-36762800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:36758000-36762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:36758000-36762800	Weak transcription	Left Ventricle	heart
13	chr19:36758400-36762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:36758400-36762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:36758800-36762600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:36758800-36762600	Weak transcription	Gastric	stomach
17	chr19:36758800-36762600	Weak transcription	Ovary	ovary
18	chr19:36758800-36762800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:36759000-36762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:36759000-36762600	Weak transcription	Liver	Liver
21	chr19:36759000-36762600	Weak transcription	Esophagus	oesophagus
22	chr19:36759000-36762800	Weak transcription	Brain Anterior Caudate	brain
23	chr19:36759200-36762000	Weak transcription	Fetal Brain Female	brain
24	chr19:36759400-36762600	Weak transcription	Placenta	Placenta
25	chr19:36760800-36764400	Weak transcription	HUVEC	blood vessel
26	chr19:36761400-36762600	Weak transcription	Pancreas	Pancrea
27	chr19:36762000-36763200	ZNF genes & repeats	Fetal Brain Female	brain
28	chr19:36762200-36762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:36762200-36762800	Weak transcription	Fetal Lung	lung
30	chr19:36762600-36763000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr19:36762600-36763000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:36762600-36763000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:36762600-36763000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:36762600-36763000	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr19:36762600-36763000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr19:36762600-36763000	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr19:36762600-36763200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:36762600-36763200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr19:36762600-36763200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr19:36762600-36763200	ZNF genes & repeats	Aorta	Aorta
41	chr19:36762600-36763200	ZNF genes & repeats	Liver	Liver
42	chr19:36762600-36763200	ZNF genes & repeats	Brain Hippocampus Middle	brain
43	chr19:36762600-36763200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr19:36762600-36763200	ZNF genes & repeats	Esophagus	oesophagus
45	chr19:36762600-36763200	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr19:36762600-36763200	ZNF genes & repeats	Placenta	Placenta
47	chr19:36762600-36763200	ZNF genes & repeats	Gastric	stomach
48	chr19:36762600-36763200	ZNF genes & repeats	Lung	lung
49	chr19:36762600-36763200	ZNF genes & repeats	Ovary	ovary
50	chr19:36762600-36763200	ZNF genes & repeats	Pancreas	Pancrea

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