Variant report

Variant	esv3380240
Chromosome Location	chr19:27740226-27939476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
2	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
3	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
4	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
5	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
6	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
7	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
8	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:
9	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
10	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258429	chromatin interactions
ENSG00000177238	chromatin interactions
ENSG00000139517	chromatin interactions
ENSG00000186184	chromatin interactions

Extended variants
information (count: 21856 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:21856 , 50 per page) page: 1 2 3 4 5 6 7 ... 438

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62133479	chr19:27740230-27740231	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs62133480	chr19:27740244-27740245	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs538640484	chr19:27740245-27740246	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs199989603	chr19:27740252-27740253	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs557363782	chr19:27740254-27740255	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs575803308	chr19:27740263-27740264	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs79155156	chr19:27740265-27740266	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs62133481	chr19:27740266-27740267	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs202220132	chr19:27740268-27740269	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs561379030	chr19:27740273-27740274	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs573443915	chr19:27740275-27740276	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs200565649	chr19:27740276-27740277	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs540845661	chr19:27740280-27740281	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs200807294	chr19:27740285-27740286	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs200104224	chr19:27740287-27740288	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs183064361	chr19:27740289-27740290	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs7508368	chr19:27740290-27740291	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs532876166	chr19:27740302-27740303	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs80189870	chr19:27740312-27740313	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs77007856	chr19:27740321-27740322	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs543855612	chr19:27740325-27740326	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs372775423	chr19:27740327-27740328	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs374383535	chr19:27740328-27740329	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs562192885	chr19:27740329-27740330	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs201583755	chr19:27740337-27740338	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs78906909	chr19:27740338-27740339	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs79946807	chr19:27740339-27740340	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs75323057	chr19:27740343-27740344	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs77724531	chr19:27740344-27740345	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs370498403	chr19:27740345-27740346	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs529646607	chr19:27740346-27740347	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs79205877	chr19:27740358-27740359	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs532609153	chr19:27740360-27740361	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs75203416	chr19:27740361-27740362	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs374560423	chr19:27740364-27740365	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs547844826	chr19:27740366-27740367	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs74889750	chr19:27740373-27740374	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs566251139	chr19:27740374-27740375	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs151091726	chr19:27740375-27740376	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs138794482	chr19:27740376-27740377	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs552779910	chr19:27740379-27740380	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs148046704	chr19:27740387-27740388	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs143242327	chr19:27740390-27740391	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs368213612	chr19:27740397-27740398	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs372134186	chr19:27740398-27740399	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs149202007	chr19:27740399-27740400	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs142341097	chr19:27740401-27740402	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs144062985	chr19:27740402-27740403	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs527461639	chr19:27740404-27740405	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs77035339	chr19:27740407-27740408	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:763 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27740400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr19:27731800-27740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:27731800-27740400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:27731800-27740400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:27731800-27740400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr19:27731800-27740400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
8	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
9	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:27731800-27740400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
11	chr19:27731800-27740400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
12	chr19:27731800-27740400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
13	chr19:27731800-27740400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:27731800-27740400	ZNF genes & repeats	Fetal Heart	heart
15	chr19:27731800-27740400	ZNF genes & repeats	Fetal Lung	lung
16	chr19:27731800-27740400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
17	chr19:27731800-27740400	ZNF genes & repeats	Small Intestine	intestine
18	chr19:27731800-27740400	ZNF genes & repeats	Stomach Mucosa	stomach
19	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr19:27731800-27740600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr19:27731800-27740600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:27731800-27740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:27731800-27740600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:27731800-27740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:27731800-27740600	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:27731800-27740600	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr19:27731800-27740600	ZNF genes & repeats	Liver	Liver
33	chr19:27731800-27740600	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr19:27731800-27740600	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr19:27731800-27740600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
36	chr19:27731800-27740600	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr19:27731800-27740600	ZNF genes & repeats	Colon Smooth Muscle	Colon
38	chr19:27731800-27740600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr19:27731800-27740600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr19:27731800-27740600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr19:27731800-27740600	ZNF genes & repeats	Left Ventricle	heart
42	chr19:27731800-27740600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr19:27731800-27740600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr19:27731800-27740600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr19:27731800-27740600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr19:27731800-27740600	ZNF genes & repeats	HMEC	breast
47	chr19:27731800-27740600	ZNF genes & repeats	HSMMtube	muscle
48	chr19:27731800-27740800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr19:27731800-27740800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr19:27731800-27740800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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