Variant report

Variant	esv1827998
Chromosome Location	chr19:36758370-36799381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:150)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:150 , 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	chr19:36796036-36796224	K562	blood:	n/a	n/a
3	CBX3	chr19:36795732-36796004	K562	blood:	n/a	n/a
4	CBX3	chr19:36762724-36763179	K562	blood:	n/a	n/a
5	CBX3	chr19:36787829-36788041	K562	blood:	n/a	n/a
6	CBX3	chr19:36782055-36782327	K562	blood:	n/a	n/a
7	CBX3	chr19:36768844-36769134	K562	blood:	n/a	n/a
8	CBX3	chr19:36789665-36790026	K562	blood:	n/a	n/a
9	CBX3	chr19:36785308-36785504	K562	blood:	n/a	n/a
10	CHD2	chr19:36762837-36763034	HepG2	liver:	n/a	n/a
11	CTCF	chr19:36764243-36764639	K562	blood:	n/a	n/a
12	CTCF	chr19:36759247-36759424	K562	blood:	n/a	n/a
13	CTCF	chr19:36797154-36797521	K562	blood:	n/a	n/a
14	CTCF	chr19:36779504-36779756	K562	blood:	n/a	n/a
15	CTCF	chr19:36787079-36787301	K562	blood:	n/a	n/a
16	CTCF	chr19:36776957-36777216	K562	blood:	n/a	n/a
17	CTCF	chr19:36769229-36769752	K562	blood:	n/a	n/a
18	CTCF	chr19:36794674-36794939	K562	blood:	n/a	n/a
19	CTCF	chr19:36779440-36779728	K562	blood:	n/a	n/a
20	CTCF	chr19:36771886-36772289	K562	blood:	n/a	n/a
21	CTCF	chr19:36766816-36767091	K562	blood:	n/a	n/a
22	CTCF	chr19:36774392-36774650	K562	blood:	n/a	n/a
23	CTCF	chr19:36761779-36762037	K562	blood:	n/a	n/a
24	CTCF	chr19:36781989-36782277	K562	blood:	n/a	n/a
25	CTCF	chr19:36794664-36794881	K562	blood:	n/a	n/a
26	CTCF	chr19:36794609-36795061	K562	blood:	n/a	n/a
27	CTCF	chr19:36764224-36764534	K562	blood:	n/a	n/a
28	CTCF	chr19:36759255-36759493	K562	blood:	n/a	n/a
29	CTCF	chr19:36797216-36797420	K562	blood:	n/a	n/a
30	CTCF	chr19:36762860-36763010	HEK293	kidney:	n/a	n/a
31	CTCF	chr19:36769382-36769596	K562	blood:	n/a	n/a
32	CTCF	chr19:36759169-36759486	K562	blood:	n/a	n/a
33	CTCF	chr19:36766850-36767038	K562	blood:	n/a	n/a
34	CTCF	chr19:36761749-36762043	K562	blood:	n/a	n/a
35	CTCF	chr19:36766770-36767062	K562	blood:	n/a	n/a
36	CTCF	chr19:36774404-36774622	K562	blood:	n/a	n/a
37	CTCF	chr19:36779400-36779893	K562	blood:	n/a	n/a
38	CTCF	chr19:36789628-36789877	K562	blood:	n/a	n/a
39	CTCF	chr19:36787024-36787440	K562	blood:	n/a	n/a
40	CTCF	chr19:36776870-36777237	K562	blood:	n/a	n/a
41	CTCF	chr19:36782028-36782324	K562	blood:	n/a	n/a
42	CTCF	chr19:36768891-36768914	GM13976	blood:	n/a	n/a
43	CTCF	chr19:36774379-36774800	K562	blood:	n/a	n/a
44	CTCF	chr19:36784523-36784856	K562	blood:	n/a	n/a
45	CTCF	chr19:36762880-36763030	GM12873	blood:	n/a	n/a
46	CTCF	chr19:36792132-36792443	K562	blood:	n/a	n/a
47	CTCF	chr19:36771880-36772177	K562	blood:	n/a	n/a
48	CTCF	chr19:36761661-36762170	K562	blood:	n/a	n/a
49	CTCF	chr19:36762993-36763034	GM12892	blood:	n/a	n/a
50	CTCF	chr19:36792105-36792428	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36758736-36758786	NT2-D1	testis:	n/a
2	chr19:36758736-36758786	HRE	kidney:	n/a
3	chr19:36758736-36758786	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:36764158-36764208	Jurkat	blood:	n/a
5	chr19:36764158-36764208	AG04449	skin:	fetal
6	chr19:36795950-36796000	NB4	blood:	n/a
7	chr19:36794212-36794262	HRCEpiC	kidney:	n/a
8	chr19:36758564-36758614	NHBE	bronchial:	n/a
9	chr19:36795950-36796000	HL-60	blood:	n/a
10	chr19:36758736-36758786	MCF-7	breast:	n/a
11	chr19:36759220-36759270	HRE	kidney:	n/a
12	chr19:36795950-36796000	AG09309	skin:	n/a
13	chr19:36758736-36758786	AG09309	skin:	n/a
14	chr19:36759220-36759270	IMR90	lung:	fetal
15	chr19:36759220-36759270	PANC-1	pancreas:	n/a
16	chr19:36758564-36758614	AG09309	skin:	n/a
17	chr19:36758736-36758786	A549	lung:	n/a
18	chr19:36794212-36794262	NT2-D1	testis:	n/a
19	chr19:36763026-36763076	Hepatocyte	liver:	n/a
20	chr19:36758736-36758786	AG04450	lung:	fetal
21	chr19:36795950-36796000	A549	lung:	n/a
22	chr19:36758736-36758786	HIPEpiC	eye:	n/a
23	chr19:36795950-36796000	SAEC	small airway:	n/a
24	chr19:36759220-36759270	SK-N-SH_RA	brain:	n/a
25	chr19:36794212-36794262	Caco-2	colon:	n/a
26	chr19:36764158-36764208	NHDF-neo	bronchial:	n/a
27	chr19:36763026-36763076	AG10803	skin:	n/a
28	chr19:36763026-36763076	HMEC	breast:	n/a
29	chr19:36794212-36794262	GM12892	blood:	n/a
30	chr19:36758564-36758614	LNCaP	prostate:	n/a
31	chr19:36795950-36796000	HCM	heart:	n/a
32	chr19:36763026-36763076	NH-A	brain:	n/a
33	chr19:36759220-36759270	HEEpiC	esophagus:	n/a
34	chr19:36763026-36763076	HNPCEpiC	eye:	n/a
35	chr19:36759220-36759270	BJ	skin:	n/a
36	chr19:36764158-36764208	A549	lung:	n/a
37	chr19:36763026-36763076	HIPEpiC	eye:	n/a
38	chr19:36764158-36764208	AG09319	gingival:	n/a
39	chr19:36794212-36794262	ProgFib	skin:	n/a
40	chr19:36794212-36794262	HNPCEpiC	eye:	n/a
41	chr19:36759220-36759270	K562	blood:	n/a
42	chr19:36758564-36758614	HCPEpiC	choroid plexus:	n/a
43	chr19:36758736-36758786	SK-N-SH_RA	brain:	n/a
44	chr19:36759220-36759270	SK-N-SH	brain:	n/a
45	chr19:36759220-36759270	H1-hESC	embryonic stem cell:	embryo
46	chr19:36763026-36763076	SK-N-MC	brain:	n/a
47	chr19:36759220-36759270	HNPCEpiC	eye:	n/a
48	chr19:36758736-36758786	SK-N-SH	brain:	n/a
49	chr19:36795950-36796000	AG04449	skin:	fetal
50	chr19:36795950-36796000	GM06990	blood:	n/a

No data

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

Extended variants
information (count: 328 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182297553	chr19:36758370-36758371	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545144604	chr19:36758374-36758375	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560374774	chr19:36758377-36758378	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529847303	chr19:36758388-36758389	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10417220	chr19:36758395-36758396	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567962801	chr19:36758397-36758398	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141489596	chr19:36758413-36758414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375738533	chr19:36758427-36758428	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550472053	chr19:36758428-36758429	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568916276	chr19:36758443-36758444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576328897	chr19:36758475-36758476	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73931540	chr19:36758479-36758480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566400978	chr19:36758480-36758481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7253462	chr19:36758494-36758495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs374015160	chr19:36758504-36758505	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114890003	chr19:36758505-36758506	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565048241	chr19:36758509-36758510	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187961137	chr19:36758516-36758517	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57948725	chr19:36758525-36758526	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10416695	chr19:36758540-36758541	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527508127	chr19:36758541-36758542	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577655556	chr19:36758546-36758547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112945434	chr19:36758551-36758552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572415337	chr19:36758555-36758556	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192195395	chr19:36758570-36758571	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149660041	chr19:36758580-36758581	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4806290	chr19:36758581-36758582	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10415323	chr19:36758593-36758594	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537672869	chr19:36758610-36758611	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565535784	chr19:36758620-36758621	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532964098	chr19:36758623-36758624	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551065311	chr19:36758624-36758625	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372089675	chr19:36758642-36758643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148427392	chr19:36758653-36758654	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533687659	chr19:36758656-36758657	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549042668	chr19:36758659-36758660	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549593865	chr19:36758664-36758665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537641741	chr19:36758672-36758673	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10417692	chr19:36758675-36758676	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184925098	chr19:36758678-36758679	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539038642	chr19:36758682-36758683	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553911273	chr19:36758686-36758687	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371107769	chr19:36758710-36758711	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146455048	chr19:36758717-36758718	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561422435	chr19:36758729-36758730	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576717057	chr19:36758730-36758731	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7255170	chr19:36758731-36758732	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs565601976	chr19:36758735-36758736	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532823321	chr19:36758755-36758756	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187798833	chr19:36758757-36758758	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

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:98 , 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	chr19:36749800-36760000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:36756600-36758800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:36756800-36758400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:36757000-36758600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:36757000-36758800	ZNF genes & repeats	Gastric	stomach
13	chr19:36757000-36759200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:36757000-36759400	ZNF genes & repeats	Placenta	Placenta
15	chr19:36757200-36759000	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr19:36757400-36762600	Weak transcription	Psoas Muscle	Psoas
17	chr19:36757600-36758800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr19:36757600-36759000	Strong transcription	Brain Anterior Caudate	brain
19	chr19:36757600-36762600	Weak transcription	Right Ventricle	heart
20	chr19:36757800-36762800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:36758000-36759200	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:36758000-36762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:36758000-36762800	Weak transcription	Left Ventricle	heart
24	chr19:36758400-36758800	ZNF genes & repeats	Ovary	ovary
25	chr19:36758400-36759000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:36758400-36759000	ZNF genes & repeats	Liver	Liver
27	chr19:36758400-36762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:36758400-36762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:36758800-36759000	ZNF genes & repeats	Esophagus	oesophagus
30	chr19:36758800-36762600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:36758800-36762600	Weak transcription	Gastric	stomach
32	chr19:36758800-36762600	Weak transcription	Ovary	ovary
33	chr19:36758800-36762800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:36759000-36762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:36759000-36762600	Weak transcription	Liver	Liver
36	chr19:36759000-36762600	Weak transcription	Esophagus	oesophagus
37	chr19:36759000-36762800	Weak transcription	Brain Anterior Caudate	brain
38	chr19:36759200-36759400	Weak transcription	Pancreas	Pancrea
39	chr19:36759200-36762000	Weak transcription	Fetal Brain Female	brain
40	chr19:36759400-36762600	Weak transcription	Placenta	Placenta
41	chr19:36760800-36764400	Weak transcription	HUVEC	blood vessel
42	chr19:36761400-36762600	Weak transcription	Pancreas	Pancrea
43	chr19:36762000-36763200	ZNF genes & repeats	Fetal Brain Female	brain
44	chr19:36762200-36762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:36762200-36762800	Weak transcription	Fetal Lung	lung
46	chr19:36762600-36763000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr19:36762600-36763000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:36762600-36763000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:36762600-36763000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:36762600-36763000	ZNF genes & repeats	Primary T cells from cord blood	blood

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