Variant report

Variant	esv3413551
Chromosome Location	chr19:27739632-27751509
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
2	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
3	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
4	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
5	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
6	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
7	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
8	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
9	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
10	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
11	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
12	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
13	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
14	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
15	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
16	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
17	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
18	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1766 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1766 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79669119	chr19:27739635-27739636	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs62137877	chr19:27739636-27739637	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs113681396	chr19:27739637-27739638	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs74337416	chr19:27739639-27739640	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs62137878	chr19:27739655-27739656	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs62137879	chr19:27739658-27739659	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs77957372	chr19:27739660-27739661	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs62133466	chr19:27739661-27739662	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs80242170	chr19:27739663-27739664	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs575492974	chr19:27739666-27739667	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs75875568	chr19:27739667-27739668	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs77008031	chr19:27739670-27739671	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs542511473	chr19:27739674-27739675	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs189656780	chr19:27739675-27739676	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs560861681	chr19:27739677-27739678	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs76309397	chr19:27739681-27739682	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs62133467	chr19:27739689-27739690	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs75489356	chr19:27739690-27739691	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs541048982	chr19:27739692-27739693	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs559400175	chr19:27739694-27739695	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs77532696	chr19:27739702-27739703	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs551942852	chr19:27739714-27739715	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs141175579	chr19:27739715-27739716	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs148239152	chr19:27739716-27739717	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs570102770	chr19:27739722-27739723	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs8105070	chr19:27739724-27739725	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs151050340	chr19:27739726-27739727	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs145570384	chr19:27739730-27739731	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs150659448	chr19:27739737-27739738	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs113545655	chr19:27739747-27739748	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs549664136	chr19:27739749-27739750	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs138623560	chr19:27739753-27739754	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs113960623	chr19:27739756-27739757	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs75074300	chr19:27739760-27739761	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs567981490	chr19:27739767-27739768	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs534575172	chr19:27739773-27739774	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs377692804	chr19:27739774-27739775	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs553036133	chr19:27739775-27739776	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs371256897	chr19:27739777-27739778	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs375782913	chr19:27739788-27739789	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs571308737	chr19:27739793-27739794	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs62133468	chr19:27739795-27739796	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs368326904	chr19:27739797-27739798	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs79795551	chr19:27739802-27739803	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs370805845	chr19:27739805-27739806	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs373897732	chr19:27739806-27739807	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs557024710	chr19:27739811-27739812	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs367715464	chr19:27739816-27739817	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs371194596	chr19:27739817-27739818	ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs575308049	chr19:27739819-27739820	ZNF genes & repeats Bivalent/Poised TSS	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:143 , 50 per page) page: 1 2 3

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

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