Variant report

Variant	esv3413122
Chromosome Location	chr19:27738011-27741709
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1012 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77321997	chr19:27738014-27738015	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs576647626	chr19:27738016-27738017	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs62136720	chr19:27738017-27738018	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs77369091	chr19:27738023-27738024	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs74207790	chr19:27738024-27738025	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs77476398	chr19:27738025-27738026	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs375655680	chr19:27738026-27738027	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs74846478	chr19:27738029-27738030	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs74572354	chr19:27738038-27738039	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs555065863	chr19:27738040-27738041	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs4588111	chr19:27738045-27738046	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs78361771	chr19:27738048-27738049	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs573540608	chr19:27738056-27738057	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs369667545	chr19:27738060-27738061	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs540685549	chr19:27738061-27738062	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs9710176	chr19:27738072-27738073	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs62136721	chr19:27738073-27738074	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs9797563	chr19:27738081-27738082	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs559462438	chr19:27738086-27738087	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs533087695	chr19:27738087-27738088	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs545206363	chr19:27738098-27738099	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs563513768	chr19:27738101-27738102	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs372931129	chr19:27738102-27738103	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs201656294	chr19:27738109-27738110	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs368827879	chr19:27738117-27738118	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs373425168	chr19:27738119-27738120	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs12150867	chr19:27738120-27738121	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs549210831	chr19:27738121-27738122	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs143584947	chr19:27738123-27738124	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs200735433	chr19:27738124-27738125	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs377391045	chr19:27738125-27738126	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs146959219	chr19:27738126-27738127	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs374049106	chr19:27738127-27738128	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs74658990	chr19:27738129-27738130	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs529255432	chr19:27738135-27738136	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs547411679	chr19:27738136-27738137	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs565815523	chr19:27738138-27738139	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs71193729	chr19:27738139-27738140	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs551551809	chr19:27738140-27738141	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs570277185	chr19:27738145-27738146	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs537256387	chr19:27738147-27738148	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs79121402	chr19:27738149-27738150	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs79189768	chr19:27738150-27738151	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs78671737	chr19:27738154-27738155	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs9710091	chr19:27738155-27738156	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs374263285	chr19:27738159-27738160	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs555991024	chr19:27738161-27738162	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs79854408	chr19:27738165-27738166	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs76073438	chr19:27738167-27738168	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs76645361	chr19:27738169-27738170	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	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:148 , 50 per page) page: 1 2 3

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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