Variant report

Variant	esv3450732
Chromosome Location	chr19:27736977-27740479
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	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
2	chr1:121484295..121485024-chr19:27738000..27738548,3	MCF-7	breast:
3	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:
4	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
5	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
6	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
7	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
8	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
9	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
10	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
11	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
12	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
13	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
14	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
15	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
16	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
17	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
18	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
19	chr1:121483957..121484819-chr19:27737979..27738502,3	MCF-7	breast:
20	chr1:121483890..121484451-chr19:27736926..27737426,2	MCF-7	breast:
21	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
22	chr10:42530126..42531081-chr19:27738662..27739344,3	MCF-7	breast:
23	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
24	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:
25	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
26	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
27	chr19:27738249..27739002-chr7:18865984..18866492,2	MCF-7	breast:
28	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
29	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
30	chr17:57931756..57934704-chr19:27735828..27738481,2	MCF-7	breast:
31	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
32	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
33	chr19:27736247..27738846-chr8:34200775..34202275,2	MCF-7	breast:
34	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
35	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
36	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
37	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
38	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
39	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1101 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142172269	chr19:27736980-27736981	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs372126369	chr19:27736982-27736983	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11669986	chr19:27736983-27736984	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs111536115	chr19:27736985-27736986	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76877309	chr19:27736986-27736987	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568195204	chr19:27736988-27736989	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376751826	chr19:27736992-27736993	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564773824	chr19:27736993-27736994	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62136703	chr19:27736995-27736996	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75918305	chr19:27736996-27736997	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs8100914	chr19:27736997-27736998	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs562447743	chr19:27737002-27737003	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530776531	chr19:27737003-27737004	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs56386765	chr19:27737004-27737005	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200727082	chr19:27737005-27737006	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549126692	chr19:27737006-27737007	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs78351886	chr19:27737007-27737008	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369181770	chr19:27737008-27737009	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561408240	chr19:27737009-27737010	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77729599	chr19:27737011-27737012	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs79767264	chr19:27737013-27737014	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528609357	chr19:27737017-27737018	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75684508	chr19:27737021-27737022	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs74967827	chr19:27737024-27737025	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs8112296	chr19:27737027-27737028	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78808509	chr19:27737034-27737035	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs79470480	chr19:27737037-27737038	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375179702	chr19:27737041-27737042	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs77105194	chr19:27737042-27737043	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551248653	chr19:27737048-27737049	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs199928584	chr19:27737051-27737052	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs80133056	chr19:27737054-27737055	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs75594624	chr19:27737055-27737056	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs77290098	chr19:27737057-27737058	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79666272	chr19:27737060-27737061	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79115975	chr19:27737063-27737064	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77377499	chr19:27737074-27737075	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs77549062	chr19:27737080-27737081	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111988586	chr19:27737082-27737083	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148869271	chr19:27737083-27737084	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78292610	chr19:27737084-27737085	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74760643	chr19:27737088-27737089	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74531910	chr19:27737091-27737092	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77916112	chr19:27737092-27737093	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs377241798	chr19:27737095-27737096	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566547519	chr19:27737101-27737102	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371259969	chr19:27737102-27737103	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs78571479	chr19:27737106-27737107	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9629818	chr19:27737108-27737109	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75025748	chr19:27737109-27737110	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:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27737000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:27731800-27737000	ZNF genes & repeats	Osteobl	bone
3	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
4	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
9	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
10	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
12	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr19:27731800-27739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:27731800-27739800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr19:27731800-27740000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:27731800-27740000	ZNF genes & repeats	Colonic Mucosa	Colon
17	chr19:27731800-27740200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:27731800-27740400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr19:27731800-27740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:27731800-27740400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:27731800-27740400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:27731800-27740400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr19:27731800-27740400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
25	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:27731800-27740400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
28	chr19:27731800-27740400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr19:27731800-27740400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
30	chr19:27731800-27740400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:27731800-27740400	ZNF genes & repeats	Fetal Heart	heart
32	chr19:27731800-27740400	ZNF genes & repeats	Fetal Lung	lung
33	chr19:27731800-27740400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr19:27731800-27740400	ZNF genes & repeats	Small Intestine	intestine
35	chr19:27731800-27740400	ZNF genes & repeats	Stomach Mucosa	stomach
36	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr19:27731800-27740600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
38	chr19:27731800-27740600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:27731800-27740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:27731800-27740600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:27731800-27740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:27731800-27740600	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
46	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:27731800-27740600	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:27731800-27740600	ZNF genes & repeats	Liver	Liver
50	chr19:27731800-27740600	ZNF genes & repeats	Brain Angular Gyrus	brain

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