Variant report

Variant	esv1804371
Chromosome Location	chr19:38610640-38616928
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	chr19:38611783..38614608-chr19:38870393..38872975,2	K562	blood:

Variant related genes	Relation type
ENSG00000099341	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150074099	chr19:38610656-38610657	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550912315	chr19:38610665-38610666	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10407230	chr19:38610670-38610671	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs705507	chr19:38610721-38610722	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs61388128	chr19:38610757-38610758	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs183954608	chr19:38610764-38610765	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534220512	chr19:38610820-38610821	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555765103	chr19:38610824-38610825	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs8105468	chr19:38610825-38610826	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs188509483	chr19:38610843-38610844	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs1141048	chr19:38610861-38610862	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556886250	chr19:38610866-38610867	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62121436	chr19:38610881-38610882	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10707316	chr19:38610939-38610940	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201605863	chr19:38610952-38610953	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200118863	chr19:38610953-38610954	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs545675802	chr19:38611022-38611023	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564432035	chr19:38611027-38611028	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565379768	chr19:38611029-38611030	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572783488	chr19:38611076-38611077	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs80132352	chr19:38611113-38611114	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79907854	chr19:38611125-38611126	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561317096	chr19:38611275-38611276	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs146139057	chr19:38611277-38611278	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569206053	chr19:38611278-38611279	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs192137098	chr19:38611310-38611311	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562442799	chr19:38611342-38611343	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533603706	chr19:38611386-38611387	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140029448	chr19:38611476-38611477	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567188016	chr19:38611486-38611487	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115858041	chr19:38611492-38611493	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143554769	chr19:38611510-38611511	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113644371	chr19:38611511-38611512	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74921874	chr19:38611514-38611515	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377398661	chr19:38611527-38611528	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537840974	chr19:38611529-38611530	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556664356	chr19:38611531-38611532	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571627499	chr19:38611542-38611543	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539652218	chr19:38611549-38611550	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146824007	chr19:38611600-38611601	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148962978	chr19:38611718-38611719	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529708921	chr19:38611736-38611737	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540087206	chr19:38611803-38611804	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs28513373	chr19:38611824-38611825	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs55638320	chr19:38611825-38611826	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573350386	chr19:38611831-38611832	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543842128	chr19:38611894-38611895	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548899754	chr19:38611895-38611896	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532854592	chr19:38611962-38611963	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545606033	chr19:38612114-38612115	Weak transcription Strong transcription ZNF genes & repeats	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:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38551200-38613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:38587200-38613600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:38587400-38613400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr19:38590200-38611000	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr19:38591800-38642800	Weak transcription	Small Intestine	intestine
6	chr19:38596000-38613800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:38597800-38611800	Strong transcription	Osteobl	bone
8	chr19:38597800-38612000	Strong transcription	HSMM	muscle
9	chr19:38598200-38611800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:38600600-38652800	Weak transcription	NHDF-Ad	bronchial
11	chr19:38602800-38612800	Weak transcription	Hela-S3	cervix
12	chr19:38603000-38611200	Weak transcription	Fetal Brain Male	brain
13	chr19:38603000-38625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:38603200-38611200	Weak transcription	Fetal Heart	heart
15	chr19:38604000-38613400	Strong transcription	Primary B cells from cord blood	blood
16	chr19:38605800-38625400	Weak transcription	HMEC	breast
17	chr19:38606000-38613000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:38606200-38612000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:38606200-38612800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:38606200-38613800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:38607200-38613800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:38607600-38613200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr19:38607600-38613400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:38607600-38613800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:38607600-38613800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:38607800-38613800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:38608200-38611600	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr19:38608400-38611200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:38608400-38611600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr19:38608400-38611600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:38608400-38611800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:38608400-38613800	Strong transcription	Liver	Liver
33	chr19:38608600-38612000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:38608800-38611200	Strong transcription	Adipose Nuclei	Adipose
35	chr19:38608800-38611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr19:38608800-38613600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:38608800-38614000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:38608800-38614000	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr19:38609000-38611200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:38609000-38611800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:38609000-38611800	ZNF genes & repeats	Fetal Stomach	stomach
42	chr19:38609000-38611800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:38609200-38611200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:38609200-38611800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
45	chr19:38609400-38611000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:38609400-38611600	Strong transcription	Rectal Smooth Muscle	rectum
47	chr19:38609400-38611800	Strong transcription	Primary T cells from cord blood	blood
48	chr19:38609400-38611800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:38609400-38611800	Strong transcription	Brain Hippocampus Middle	brain
50	chr19:38609400-38611800	Strong transcription	Gastric	stomach

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