Variant report

Variant	esv1828325
Chromosome Location	chr19:36759505-36794374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 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	chr19:36782055-36782327	K562	blood:	n/a	n/a
3	CBX3	chr19:36785308-36785504	K562	blood:	n/a	n/a
4	CBX3	chr19:36789665-36790026	K562	blood:	n/a	n/a
5	CBX3	chr19:36762724-36763179	K562	blood:	n/a	n/a
6	CBX3	chr19:36787829-36788041	K562	blood:	n/a	n/a
7	CBX3	chr19:36768844-36769134	K562	blood:	n/a	n/a
8	CHD2	chr19:36762837-36763034	HepG2	liver:	n/a	n/a
9	CTCF	chr19:36762880-36763030	GM12873	blood:	n/a	n/a
10	CTCF	chr19:36761749-36762043	K562	blood:	n/a	n/a
11	CTCF	chr19:36787024-36787440	K562	blood:	n/a	n/a
12	CTCF	chr19:36776870-36777237	K562	blood:	n/a	n/a
13	CTCF	chr19:36766850-36767038	K562	blood:	n/a	n/a
14	CTCF	chr19:36792132-36792443	K562	blood:	n/a	n/a
15	CTCF	chr19:36769229-36769752	K562	blood:	n/a	n/a
16	CTCF	chr19:36762860-36763010	HEK293	kidney:	n/a	n/a
17	CTCF	chr19:36774379-36774800	K562	blood:	n/a	n/a
18	CTCF	chr19:36776957-36777216	K562	blood:	n/a	n/a
19	CTCF	chr19:36779400-36779893	K562	blood:	n/a	n/a
20	CTCF	chr19:36761661-36762170	K562	blood:	n/a	n/a
21	CTCF	chr19:36779440-36779728	K562	blood:	n/a	n/a
22	CTCF	chr19:36764224-36764534	K562	blood:	n/a	n/a
23	CTCF	chr19:36784469-36784882	K562	blood:	n/a	n/a
24	CTCF	chr19:36792079-36792467	K562	blood:	n/a	n/a
25	CTCF	chr19:36771880-36772177	K562	blood:	n/a	n/a
26	CTCF	chr19:36762993-36763034	GM12892	blood:	n/a	n/a
27	CTCF	chr19:36762860-36763010	GM12872	blood:	n/a	n/a
28	CTCF	chr19:36768891-36768914	GM13976	blood:	n/a	n/a
29	CTCF	chr19:36792105-36792428	K562	blood:	n/a	n/a
30	CTCF	chr19:36774404-36774622	K562	blood:	n/a	n/a
31	CTCF	chr19:36789628-36789877	K562	blood:	n/a	n/a
32	CTCF	chr19:36787079-36787301	K562	blood:	n/a	n/a
33	CTCF	chr19:36774392-36774650	K562	blood:	n/a	n/a
34	CTCF	chr19:36766770-36767062	K562	blood:	n/a	n/a
35	CTCF	chr19:36784523-36784856	K562	blood:	n/a	n/a
36	CTCF	chr19:36781989-36782277	K562	blood:	n/a	n/a
37	CTCF	chr19:36779504-36779756	K562	blood:	n/a	n/a
38	CTCF	chr19:36764243-36764639	K562	blood:	n/a	n/a
39	CTCF	chr19:36782010-36782281	K562	blood:	n/a	n/a
40	CTCF	chr19:36766816-36767091	K562	blood:	n/a	n/a
41	CTCF	chr19:36782028-36782324	K562	blood:	n/a	n/a
42	CTCF	chr19:36771886-36772289	K562	blood:	n/a	n/a
43	CTCF	chr19:36769382-36769596	K562	blood:	n/a	n/a
44	CTCF	chr19:36761779-36762037	K562	blood:	n/a	n/a
45	CTCF	chr19:36789490-36789986	K562	blood:	n/a	n/a
46	EGR1	chr19:36765271-36765733	GM12878	blood:	n/a	n/a
47	EP300	chr19:36762840-36763201	HepG2	liver:	n/a	n/a
48	FOXA2	chr19:36759275-36800934	A549	lung:	n/a	n/a
49	GABPA	chr19:36774531-36774634	GM12878	blood:	n/a	n/a
50	GABPA	chr19:36789721-36789824	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36794212-36794262	ProgFib	skin:	n/a
2	chr19:36763026-36763076	PrEC	prostate:	n/a
3	chr19:36764158-36764208	HNPCEpiC	eye:	n/a
4	chr19:36764158-36764208	HIPEpiC	eye:	n/a
5	chr19:36764158-36764208	HUVEC	blood vessel:	n/a
6	chr19:36763026-36763076	IMR90	lung:	fetal
7	chr19:36764158-36764208	A549	lung:	n/a
8	chr19:36794212-36794262	HRE	kidney:	n/a
9	chr19:36763026-36763076	HRCEpiC	kidney:	n/a
10	chr19:36764158-36764208	MCF10A-Er-Src	breast:	n/a
11	chr19:36763026-36763076	MCF10A-Er-Src	breast:	n/a
12	chr19:36794212-36794262	MCF-7	breast:	n/a
13	chr19:36794212-36794262	AG04450	lung:	fetal
14	chr19:36763026-36763076	HCPEpiC	choroid plexus:	n/a
15	chr19:36763026-36763076	HMEC	breast:	n/a
16	chr19:36794212-36794262	CMK	blood:	n/a
17	chr19:36794212-36794262	NHBE	bronchial:	n/a
18	chr19:36764158-36764208	NHDF-neo	bronchial:	n/a
19	chr19:36794212-36794262	LNCaP	prostate:	n/a
20	chr19:36763026-36763076	HEK293	kidney:	embryo
21	chr19:36794212-36794262	HIPEpiC	eye:	n/a
22	chr19:36763026-36763076	Hepatocyte	liver:	n/a
23	chr19:36794212-36794262	PFSK-1	brain:	n/a
24	chr19:36763026-36763076	HPAEpiC	pulmonary alveolar:	n/a
25	chr19:36794212-36794262	HCT-116	colon:	n/a
26	chr19:36763026-36763076	BE2_C	brain:	n/a
27	chr19:36794212-36794262	HNPCEpiC	eye:	n/a
28	chr19:36764158-36764208	GM12892	blood:	n/a
29	chr19:36763026-36763076	HEEpiC	esophagus:	n/a
30	chr19:36764158-36764208	HRPEpiC	eye:	n/a
31	chr19:36794212-36794262	AG10803	skin:	n/a
32	chr19:36763026-36763076	HRPEpiC	eye:	n/a
33	chr19:36764158-36764208	BE2_C	brain:	n/a
34	chr19:36763026-36763076	CMK	blood:	n/a
35	chr19:36794212-36794262	Hepatocyte	liver:	n/a
36	chr19:36763026-36763076	HL-60	blood:	n/a
37	chr19:36763026-36763076	MCF-7	breast:	n/a
38	chr19:36763026-36763076	HepG2	liver:	n/a
39	chr19:36764158-36764208	PrEC	prostate:	n/a
40	chr19:36763026-36763076	Caco-2	colon:	n/a
41	chr19:36764158-36764208	H1-hESC	embryonic stem cell:	embryo
42	chr19:36763026-36763076	BJ	skin:	n/a
43	chr19:36794212-36794262	GM12891	blood:	n/a
44	chr19:36764158-36764208	AG04450	lung:	fetal
45	chr19:36764158-36764208	RPTEC	kidney:	n/a
46	chr19:36794212-36794262	NHDF-neo	bronchial:	n/a
47	chr19:36794212-36794262	SK-N-SH_RA	brain:	n/a
48	chr19:36794212-36794262	PANC-1	pancreas:	n/a
49	chr19:36764158-36764208	HRCEpiC	kidney:	n/a
50	chr19:36763026-36763076	T-47D	breast:	n/a

No data

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

Extended variants
information (count: 134 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113399496	chr19:36759516-36759517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112433058	chr19:36759536-36759537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534284750	chr19:36759545-36759546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62115201	chr19:36759565-36759566	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs574556718	chr19:36759576-36759577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542062758	chr19:36759579-36759580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557228592	chr19:36759586-36759587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575506008	chr19:36759653-36759654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113465861	chr19:36759676-36759677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190733034	chr19:36759726-36759727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546118327	chr19:36759729-36759730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182918989	chr19:36759734-36759735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373010920	chr19:36759775-36759776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112047636	chr19:36759785-36759786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62115202	chr19:36759789-36759790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62115203	chr19:36759863-36759864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62115204	chr19:36759946-36759947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78705421	chr19:36759955-36759956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75595622	chr19:36759996-36759997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373230015	chr19:36759999-36760000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528488971	chr19:36760187-36760188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62115205	chr19:36760334-36760335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561858948	chr19:36760367-36760368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138912831	chr19:36760378-36760379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550636776	chr19:36760396-36760397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62115206	chr19:36760401-36760402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569157404	chr19:36760416-36760417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139307040	chr19:36760436-36760437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62115207	chr19:36760454-36760455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373609532	chr19:36760492-36760493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533356149	chr19:36760502-36760503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62115208	chr19:36760503-36760504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62115209	chr19:36760504-36760505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149094601	chr19:36760507-36760508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552063301	chr19:36760508-36760509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143928562	chr19:36760511-36760512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111845844	chr19:36760512-36760513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567006700	chr19:36760519-36760520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200202230	chr19:36760523-36760524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534634379	chr19:36760539-36760540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552661635	chr19:36760545-36760546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141692614	chr19:36760548-36760549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568048046	chr19:36760555-36760556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62115210	chr19:36760556-36760557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112581280	chr19:36760561-36760562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142778891	chr19:36760563-36760564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575519019	chr19:36760578-36760579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200000215	chr19:36760807-36760808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545632862	chr19:36760887-36760888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558051490	chr19:36760892-36760893	Weak 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:81 , 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	chr19:36757400-36762600	Weak transcription	Psoas Muscle	Psoas
10	chr19:36757600-36762600	Weak transcription	Right Ventricle	heart
11	chr19:36757800-36762800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:36758000-36762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:36758000-36762800	Weak transcription	Left Ventricle	heart
14	chr19:36758400-36762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:36758400-36762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:36758800-36762600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:36758800-36762600	Weak transcription	Gastric	stomach
18	chr19:36758800-36762600	Weak transcription	Ovary	ovary
19	chr19:36758800-36762800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:36759000-36762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:36759000-36762600	Weak transcription	Liver	Liver
22	chr19:36759000-36762600	Weak transcription	Esophagus	oesophagus
23	chr19:36759000-36762800	Weak transcription	Brain Anterior Caudate	brain
24	chr19:36759200-36762000	Weak transcription	Fetal Brain Female	brain
25	chr19:36759400-36762600	Weak transcription	Placenta	Placenta
26	chr19:36760800-36764400	Weak transcription	HUVEC	blood vessel
27	chr19:36761400-36762600	Weak transcription	Pancreas	Pancrea
28	chr19:36762000-36763200	ZNF genes & repeats	Fetal Brain Female	brain
29	chr19:36762200-36762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:36762200-36762800	Weak transcription	Fetal Lung	lung
31	chr19:36762600-36763000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr19:36762600-36763000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:36762600-36763000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:36762600-36763000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:36762600-36763000	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:36762600-36763000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr19:36762600-36763000	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr19:36762600-36763200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:36762600-36763200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr19:36762600-36763200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr19:36762600-36763200	ZNF genes & repeats	Aorta	Aorta
42	chr19:36762600-36763200	ZNF genes & repeats	Liver	Liver
43	chr19:36762600-36763200	ZNF genes & repeats	Brain Hippocampus Middle	brain
44	chr19:36762600-36763200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr19:36762600-36763200	ZNF genes & repeats	Esophagus	oesophagus
46	chr19:36762600-36763200	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr19:36762600-36763200	ZNF genes & repeats	Placenta	Placenta
48	chr19:36762600-36763200	ZNF genes & repeats	Gastric	stomach
49	chr19:36762600-36763200	ZNF genes & repeats	Lung	lung
50	chr19:36762600-36763200	ZNF genes & repeats	Ovary	ovary

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