Variant report

Variant	esv3383246
Chromosome Location	chr19:27740443-27758608
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	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
3	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
4	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
5	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:

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

Extended variants
information (count: 2441 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:2441 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371533989	chr19:27740445-27740446	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs113173214	chr19:27740447-27740448	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs77568409	chr19:27740448-27740449	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs375846038	chr19:27740449-27740450	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs538184150	chr19:27740452-27740453	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs369983124	chr19:27740453-27740454	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs71238000	chr19:27740457-27740458	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs556186422	chr19:27740460-27740461	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs373864678	chr19:27740463-27740464	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs370538681	chr19:27740464-27740465	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs376253531	chr19:27740466-27740467	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs74943149	chr19:27740467-27740468	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369441994	chr19:27740469-27740470	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs370653207	chr19:27740475-27740476	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs569233825	chr19:27740477-27740478	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs536662019	chr19:27740483-27740484	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555075073	chr19:27740484-27740485	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs149464749	chr19:27740485-27740486	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs374562248	chr19:27740493-27740494	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs573405297	chr19:27740497-27740498	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs376920155	chr19:27740498-27740499	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs370569109	chr19:27740502-27740503	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs375846599	chr19:27740503-27740504	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs373672673	chr19:27740505-27740506	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs75358284	chr19:27740509-27740510	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs540457554	chr19:27740511-27740512	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs145538673	chr19:27740513-27740514	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs559146764	chr19:27740514-27740515	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs78968432	chr19:27740515-27740516	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs577465205	chr19:27740519-27740520	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs367579468	chr19:27740524-27740525	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs75195939	chr19:27740525-27740526	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs544844056	chr19:27740526-27740527	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs370707964	chr19:27740527-27740528	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs372708374	chr19:27740531-27740532	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs562853948	chr19:27740532-27740533	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs76465597	chr19:27740537-27740538	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs62133483	chr19:27740539-27740540	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs78059023	chr19:27740540-27740541	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs376950083	chr19:27740541-27740542	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs371153278	chr19:27740543-27740544	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs77302310	chr19:27740544-27740545	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs77022467	chr19:27740548-27740549	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs185269157	chr19:27740549-27740550	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs375443382	chr19:27740552-27740553	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs368292690	chr19:27740559-27740560	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs79528193	chr19:27740560-27740561	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs79003088	chr19:27740566-27740567	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs78464320	chr19:27740570-27740571	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs62133484	chr19:27740573-27740574	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:131 , 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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