Variant report

Variant	esv3396563
Chromosome Location	chr19:27739968-27758131
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	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
2	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
3	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
4	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
5	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
6	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
7	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
8	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
9	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
10	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:

No data

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

Extended variants
information (count: 2539 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:2539 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74706862	chr19:27739969-27739970	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs77730647	chr19:27739971-27739972	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs113619422	chr19:27739975-27739976	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs8108203	chr19:27739980-27739981	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs550373404	chr19:27739985-27739986	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs78753912	chr19:27739988-27739989	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs140463147	chr19:27739989-27739990	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs568958090	chr19:27739990-27739991	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs142142231	chr19:27739994-27739995	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs536017176	chr19:27739999-27740000	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs74901694	chr19:27740002-27740003	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs374489872	chr19:27740003-27740004	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs368474128	chr19:27740004-27740005	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs77130629	chr19:27740005-27740006	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs371873298	chr19:27740006-27740007	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs577923453	chr19:27740007-27740008	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs545407020	chr19:27740009-27740010	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs563608934	chr19:27740012-27740013	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs78569507	chr19:27740015-27740016	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs74802553	chr19:27740018-27740019	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs376434776	chr19:27740021-27740022	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs369311402	chr19:27740025-27740026	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs80223629	chr19:27740026-27740027	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs575840187	chr19:27740035-27740036	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs372014130	chr19:27740036-27740037	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs79887609	chr19:27740041-27740042	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs62133474	chr19:27740042-27740043	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs74360791	chr19:27740043-27740044	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs376624792	chr19:27740046-27740047	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs28786129	chr19:27740050-27740051	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs77647781	chr19:27740053-27740054	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs543230869	chr19:27740054-27740055	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs561511575	chr19:27740059-27740060	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs77445757	chr19:27740060-27740061	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs368732945	chr19:27740061-27740062	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs373923401	chr19:27740062-27740063	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs80092083	chr19:27740063-27740064	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs111897836	chr19:27740064-27740065	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs376871342	chr19:27740065-27740066	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs528697847	chr19:27740067-27740068	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs547277156	chr19:27740071-27740072	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs74200650	chr19:27740072-27740073	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs79331691	chr19:27740073-27740074	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs370065364	chr19:27740074-27740075	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs62133475	chr19:27740075-27740076	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs79498282	chr19:27740078-27740079	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs188524108	chr19:27740096-27740097	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs544343731	chr19:27740107-27740108	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs373279168	chr19:27740108-27740109	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs377300869	chr19:27740109-27740110	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:161 , 50 per page) page: 1 2 3 4

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

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