Variant report

Variant	esv3418519
Chromosome Location	chr19:27737146-27739968
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
2	chr17:57931756..57934704-chr19:27735828..27738481,2	MCF-7	breast:
3	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
4	chr19:27738249..27739002-chr7:18865984..18866492,2	MCF-7	breast:
5	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
6	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
7	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
8	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
9	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
10	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
11	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
12	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
13	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
14	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
15	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
16	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
17	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
18	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
19	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
20	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
21	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
22	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
23	chr1:121484295..121485024-chr19:27738000..27738548,3	MCF-7	breast:
24	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
25	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
26	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
27	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
28	chr19:27736247..27738846-chr8:34200775..34202275,2	MCF-7	breast:
29	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
30	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
31	chr1:121483957..121484819-chr19:27737979..27738502,3	MCF-7	breast:
32	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:
33	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
34	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
35	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
36	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
37	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
38	chr1:121483890..121484451-chr19:27736926..27737426,2	MCF-7	breast:
39	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186184	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000177238	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000258429	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000139517	chromatin interactions

Extended variants
information (count: 890 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:890 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370026338	chr19:27737146-27737147	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201586371	chr19:27737147-27737148	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs199782000	chr19:27737149-27737150	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376287748	chr19:27737165-27737166	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200771268	chr19:27737167-27737168	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201403296	chr19:27737172-27737173	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78352917	chr19:27737176-27737177	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs74983273	chr19:27737179-27737180	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561157239	chr19:27737180-27737181	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528574663	chr19:27737186-27737187	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs113450222	chr19:27737188-27737189	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376341121	chr19:27737190-27737191	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144538119	chr19:27737191-27737192	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540775318	chr19:27737195-27737196	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs565379626	chr19:27737197-27737198	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370727525	chr19:27737198-27737199	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs78404128	chr19:27737203-27737204	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs80209888	chr19:27737205-27737206	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532710901	chr19:27737210-27737211	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74949832	chr19:27737211-27737212	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs77607608	chr19:27737212-27737213	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs373800145	chr19:27737215-27737216	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141070534	chr19:27737216-27737217	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376942036	chr19:27737220-27737221	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs569542795	chr19:27737224-27737225	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs56084421	chr19:27737225-27737226	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs139420606	chr19:27737226-27737227	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62136705	chr19:27737230-27737231	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76116411	chr19:27737232-27737233	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530354610	chr19:27737233-27737234	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371177727	chr19:27737237-27737238	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376007534	chr19:27737238-27737239	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs9645477	chr19:27737239-27737240	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs200140475	chr19:27737241-27737242	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs9645488	chr19:27737243-27737244	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77466096	chr19:27737245-27737246	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201098320	chr19:27737247-27737248	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566392762	chr19:27737250-27737251	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs80118496	chr19:27737259-27737260	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533787760	chr19:27737260-27737261	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77118756	chr19:27737261-27737262	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558191246	chr19:27737267-27737268	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74708129	chr19:27737268-27737269	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75584926	chr19:27737272-27737273	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570229144	chr19:27737274-27737275	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537623667	chr19:27737275-27737276	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185315411	chr19:27737277-27737278	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs62136706	chr19:27737278-27737279	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555970974	chr19:27737282-27737283	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574663734	chr19:27737288-27737289	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	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:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
2	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
6	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
7	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
8	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
10	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:27731800-27739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:27731800-27739800	ZNF genes & repeats	Fetal Stomach	stomach
13	chr19:27731800-27740000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr19:27731800-27740000	ZNF genes & repeats	Colonic Mucosa	Colon
15	chr19:27731800-27740200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:27731800-27740400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr19:27731800-27740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:27731800-27740400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:27731800-27740400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:27731800-27740400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr19:27731800-27740400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
23	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
24	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:27731800-27740400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
26	chr19:27731800-27740400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
27	chr19:27731800-27740400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr19:27731800-27740400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:27731800-27740400	ZNF genes & repeats	Fetal Heart	heart
30	chr19:27731800-27740400	ZNF genes & repeats	Fetal Lung	lung
31	chr19:27731800-27740400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr19:27731800-27740400	ZNF genes & repeats	Small Intestine	intestine
33	chr19:27731800-27740400	ZNF genes & repeats	Stomach Mucosa	stomach
34	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr19:27731800-27740600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
36	chr19:27731800-27740600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:27731800-27740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:27731800-27740600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:27731800-27740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:27731800-27740600	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:27731800-27740600	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr19:27731800-27740600	ZNF genes & repeats	Liver	Liver
48	chr19:27731800-27740600	ZNF genes & repeats	Brain Angular Gyrus	brain
49	chr19:27731800-27740600	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr19:27731800-27740600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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