Variant report

Variant	esv3433655
Chromosome Location	chr19:27738914-27814301
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
2	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
3	chr19:27738249..27739002-chr7:18865984..18866492,2	MCF-7	breast:
4	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:
5	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
6	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
7	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
8	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
9	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
10	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
11	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
12	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
13	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
14	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
15	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
16	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
17	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
18	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
19	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
20	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
21	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
22	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
23	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
24	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
25	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
26	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
27	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
28	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
29	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
30	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:
31	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
32	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:

No data

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

Extended variants
information (count: 9608 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:9608 , 50 per page) page: 1 2 3 4 5 6 7 ... 193

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76399716	chr19:27738914-27738915	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs565381825	chr19:27738915-27738916	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs78063032	chr19:27738918-27738919	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs76071761	chr19:27738920-27738921	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs1138159	chr19:27738925-27738926	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs577327304	chr19:27738928-27738929	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs1142086	chr19:27738929-27738930	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs112513156	chr19:27738931-27738932	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs544806972	chr19:27738932-27738933	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs74384441	chr19:27738936-27738937	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs563012308	chr19:27738938-27738939	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs9710244	chr19:27738939-27738940	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs188877919	chr19:27738942-27738943	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs77432516	chr19:27738944-27738945	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs77916286	chr19:27738947-27738948	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs181301468	chr19:27738954-27738955	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs74976264	chr19:27738955-27738956	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs547772791	chr19:27738958-27738959	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs367911717	chr19:27738959-27738960	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs559762196	chr19:27738969-27738970	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs368243930	chr19:27738971-27738972	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs372101440	chr19:27738972-27738973	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs62137861	chr19:27738975-27738976	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs76840061	chr19:27738978-27738979	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs62137862	chr19:27738979-27738980	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs78310343	chr19:27738980-27738981	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs551813068	chr19:27738981-27738982	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs74206938	chr19:27738982-27738983	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs147935664	chr19:27738983-27738984	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs570539723	chr19:27738984-27738985	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs537613717	chr19:27738985-27738986	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs549979345	chr19:27738986-27738987	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs376761795	chr19:27738987-27738988	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs79224394	chr19:27738990-27738991	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs76206707	chr19:27738991-27738992	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs568251105	chr19:27738994-27738995	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs535783536	chr19:27738995-27738996	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs62137863	chr19:27738999-27739000	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs372824669	chr19:27739001-27739002	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs75653916	chr19:27739002-27739003	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs368799157	chr19:27739009-27739010	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs75103920	chr19:27739010-27739011	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs76645615	chr19:27739011-27739012	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs62137864	chr19:27739013-27739014	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs566826330	chr19:27739014-27739015	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs534195382	chr19:27739015-27739016	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs371919937	chr19:27739016-27739017	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs559060926	chr19:27739025-27739026	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs62137865	chr19:27739026-27739027	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs79885758	chr19:27739027-27739028	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	7 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:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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

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