Variant report

Variant	esv3440280
Chromosome Location	chr19:38620781-38622583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38608755..38611034-chr19:38621439..38623711,2	K562	blood:

Variant related genes	Relation type
ENSG00000105738	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201045730	chr19:38620833-38620834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574821858	chr19:38620865-38620866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535458924	chr19:38620929-38620930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557462673	chr19:38620931-38620932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575774681	chr19:38620948-38620949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543661827	chr19:38620994-38620995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565023042	chr19:38620995-38620996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190647997	chr19:38621014-38621015	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs541355727	chr19:38621036-38621037	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183850738	chr19:38621057-38621058	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112671349	chr19:38621066-38621067	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547845127	chr19:38621078-38621079	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs373332256	chr19:38621086-38621087	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372855720	chr19:38621110-38621111	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376293451	chr19:38621112-38621113	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs530477501	chr19:38621117-38621118	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552363846	chr19:38621125-38621126	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570752740	chr19:38621134-38621135	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs376106371	chr19:38621135-38621136	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528673872	chr19:38621161-38621162	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs61729130	chr19:38621172-38621173	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201192663	chr19:38621173-38621174	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs144310265	chr19:38621177-38621178	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562391016	chr19:38621186-38621187	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370779271	chr19:38621191-38621192	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373721533	chr19:38621215-38621216	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538534617	chr19:38621219-38621220	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376900947	chr19:38621227-38621228	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201730879	chr19:38621233-38621234	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192983610	chr19:38621254-38621255	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs529504567	chr19:38621257-38621258	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs148319557	chr19:38621286-38621287	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376550640	chr19:38621291-38621292	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs141435026	chr19:38621311-38621312	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs368560359	chr19:38621320-38621321	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577139627	chr19:38621329-38621330	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150829300	chr19:38621330-38621331	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372257715	chr19:38621339-38621340	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199506586	chr19:38621385-38621386	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139844747	chr19:38621386-38621387	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374651861	chr19:38621408-38621409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574616980	chr19:38621421-38621422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368936930	chr19:38621438-38621439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371647870	chr19:38621443-38621444	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs861304	chr19:38621473-38621474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562906725	chr19:38621501-38621502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530417973	chr19:38621513-38621514	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545543302	chr19:38621527-38621528	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563815238	chr19:38621581-38621582	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528715945	chr19:38621582-38621583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38591800-38642800	Weak transcription	Small Intestine	intestine
2	chr19:38600600-38652800	Weak transcription	NHDF-Ad	bronchial
3	chr19:38603000-38625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:38605800-38625400	Weak transcription	HMEC	breast
5	chr19:38610800-38643600	Weak transcription	HepG2	liver
6	chr19:38611000-38652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:38611200-38625400	Weak transcription	NHEK	skin
8	chr19:38611600-38621400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:38611600-38625400	Weak transcription	Fetal Heart	heart
10	chr19:38611600-38626000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:38611600-38634400	Weak transcription	Stomach Mucosa	stomach
12	chr19:38611600-38634800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:38611600-38634800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr19:38611600-38641400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:38611600-38653000	Weak transcription	HUVEC	blood vessel
16	chr19:38611800-38623600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:38611800-38623800	Weak transcription	GM12878-XiMat	blood
18	chr19:38611800-38634600	Weak transcription	NH-A	brain
19	chr19:38611800-38642600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:38611800-38653000	Weak transcription	Fetal Kidney	kidney
21	chr19:38613400-38633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:38613400-38634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr19:38613600-38620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:38613600-38625600	Weak transcription	Hela-S3	cervix
25	chr19:38613600-38634800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:38613800-38620800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:38613800-38620800	Weak transcription	Primary T cells from cord blood	blood
28	chr19:38613800-38620800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:38613800-38620800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:38613800-38620800	Weak transcription	Aorta	Aorta
31	chr19:38613800-38620800	Weak transcription	Colonic Mucosa	Colon
32	chr19:38613800-38620800	Weak transcription	Ovary	ovary
33	chr19:38613800-38620800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr19:38613800-38621000	Weak transcription	Adipose Nuclei	Adipose
35	chr19:38613800-38621000	Weak transcription	Pancreas	Pancrea
36	chr19:38613800-38621000	Weak transcription	Spleen	Spleen
37	chr19:38613800-38621000	Weak transcription	NHLF	lung
38	chr19:38613800-38621200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:38613800-38621200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:38613800-38621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:38613800-38621200	Weak transcription	Fetal Lung	lung
42	chr19:38613800-38621200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr19:38613800-38621200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:38613800-38621200	Weak transcription	Thymus	Thymus
45	chr19:38613800-38621400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:38613800-38621600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:38613800-38621600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:38613800-38621600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:38613800-38621600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:38613800-38621800	Weak transcription	Muscle Satellite Cultured Cells	--

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