Variant report

Variant	esv3352549
Chromosome Location	chr19:27740566-27756371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69363397..69365027-chr19:27738551..27740871,2	MCF-7	breast:
2	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
3	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:

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

Extended variants
information (count: 2127 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:2127 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79003088	chr19:27740566-27740567	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs78464320	chr19:27740570-27740571	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs62133484	chr19:27740573-27740574	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs76899061	chr19:27740577-27740578	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs76290794	chr19:27740579-27740580	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs370853676	chr19:27740580-27740581	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs78240116	chr19:27740582-27740583	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs375628056	chr19:27740583-27740584	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs10221520	chr19:27740595-27740596	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs10221517	chr19:27740596-27740597	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs62133485	chr19:27740597-27740598	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs368140008	chr19:27740599-27740600	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs372028713	chr19:27740604-27740605	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs375053280	chr19:27740605-27740606	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs62133486	chr19:27740606-27740607	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs367591879	chr19:27740608-27740609	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs10221518	chr19:27740614-27740615	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs372361862	chr19:27740616-27740617	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs375277675	chr19:27740625-27740626	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs371529303	chr19:27740631-27740632	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs570577740	chr19:27740650-27740651	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs531413781	chr19:27740659-27740660	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs550063528	chr19:27740662-27740663	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs73016544	chr19:27740665-27740666	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs536629008	chr19:27740681-27740682	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs548270872	chr19:27740689-27740690	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs566962476	chr19:27740703-27740704	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs534350885	chr19:27740707-27740708	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs558786784	chr19:27740708-27740709	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs79037900	chr19:27740710-27740711	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs544500425	chr19:27740713-27740714	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs556416772	chr19:27740715-27740716	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs574827491	chr19:27740719-27740720	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs541414816	chr19:27740722-27740723	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs201805587	chr19:27740740-27740741	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs111490808	chr19:27740747-27740748	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs536941256	chr19:27740750-27740751	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs60668794	chr19:27740759-27740760	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs373739806	chr19:27740767-27740768	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs202230414	chr19:27740774-27740775	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs568130884	chr19:27740781-27740782	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs545840912	chr19:27740784-27740785	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs564040203	chr19:27740789-27740790	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs374243572	chr19:27740792-27740793	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs550030789	chr19:27740807-27740808	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs200785617	chr19:27740810-27740811	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs529247853	chr19:27740827-27740828	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368158186	chr19:27740835-27740836	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs200486226	chr19:27740838-27740839	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548599476	chr19:27740846-27740847	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr19:27731800-27740600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
3	chr19:27731800-27740600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:27731800-27740600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:27731800-27740600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:27731800-27740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:27731800-27740600	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr19:27731800-27740600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:27731800-27740600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:27731800-27740600	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:27731800-27740600	ZNF genes & repeats	Liver	Liver
15	chr19:27731800-27740600	ZNF genes & repeats	Brain Angular Gyrus	brain
16	chr19:27731800-27740600	ZNF genes & repeats	Brain Anterior Caudate	brain
17	chr19:27731800-27740600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr19:27731800-27740600	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr19:27731800-27740600	ZNF genes & repeats	Colon Smooth Muscle	Colon
20	chr19:27731800-27740600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:27731800-27740600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:27731800-27740600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr19:27731800-27740600	ZNF genes & repeats	Left Ventricle	heart
24	chr19:27731800-27740600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr19:27731800-27740600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
26	chr19:27731800-27740600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr19:27731800-27740600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
28	chr19:27731800-27740600	ZNF genes & repeats	HMEC	breast
29	chr19:27731800-27740600	ZNF genes & repeats	HSMMtube	muscle
30	chr19:27731800-27740800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:27731800-27740800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr19:27731800-27740800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr19:27731800-27740800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr19:27731800-27740800	ZNF genes & repeats	A549	lung
35	chr19:27731800-27740800	ZNF genes & repeats	HUVEC	blood vessel
36	chr19:27731800-27740800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr19:27731800-27741000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr19:27731800-27741000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr19:27731800-27741000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr19:27731800-27741000	ZNF genes & repeats	Fetal Brain Male	brain
41	chr19:27731800-27741800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:27733400-27740800	ZNF genes & repeats	NH-A	brain
43	chr19:27733600-27740800	ZNF genes & repeats	Hela-S3	cervix
44	chr19:27734000-27740600	ZNF genes & repeats	HepG2	liver
45	chr19:27736200-27740600	ZNF genes & repeats	GM12878-XiMat	blood
46	chr19:27736400-27740800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
47	chr19:27737000-27740600	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr19:27737000-27740600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr19:27737800-27740600	ZNF genes & repeats	Osteobl	bone
50	chr19:27738800-27740800	ZNF genes & repeats	K562	blood

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