Variant report

Variant	esv3375418
Chromosome Location	chr19:36160337-36162885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35758876..35761296-chr19:36162627..36164596,2	MCF-7	breast:
2	chr19:36159215..36161380-chr19:36163087..36164675,2	K562	blood:
3	chr19:36153170..36155619-chr19:36159391..36161425,2	MCF-7	breast:
4	chr19:36139069..36141047-chr19:36162643..36164657,2	MCF-7	breast:
5	chr19:35756302..35758077-chr19:36161376..36163841,2	K562	blood:

Variant related genes	Relation type
ENSG00000105699	chromatin interactions
ENSG00000105698	chromatin interactions
ENSG00000126267	chromatin interactions
ENSG00000226510	chromatin interactions
ENSG00000266455	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73600885	chr19:36160338-36160339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151267065	chr19:36160353-36160354	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373684086	chr19:36160356-36160357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572257053	chr19:36160357-36160358	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs114346452	chr19:36160364-36160365	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535837799	chr19:36160400-36160401	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201516540	chr19:36160402-36160403	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34854874	chr19:36160423-36160424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557702812	chr19:36160453-36160454	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs563924469	chr19:36160495-36160496	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577346806	chr19:36160498-36160499	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543111630	chr19:36160559-36160560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563339144	chr19:36160569-36160570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528892577	chr19:36160597-36160598	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548918421	chr19:36160611-36160612	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140506445	chr19:36160618-36160619	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570274172	chr19:36160684-36160685	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548042105	chr19:36160739-36160740	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571032790	chr19:36160771-36160772	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533511913	chr19:36160785-36160786	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368948763	chr19:36160816-36160817	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371133361	chr19:36160829-36160830	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570091367	chr19:36160833-36160834	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs10401695	chr19:36160834-36160835	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs555700070	chr19:36160839-36160840	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs186662906	chr19:36160850-36160851	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555309153	chr19:36160951-36160952	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs2284149	chr19:36160960-36160961	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73931241	chr19:36161071-36161072	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs73600889	chr19:36161086-36161087	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543175298	chr19:36161095-36161096	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs74596797	chr19:36161258-36161259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150337592	chr19:36161280-36161281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs573653873	chr19:36161288-36161289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs191375173	chr19:36161331-36161332	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs75339023	chr19:36161356-36161357	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182784596	chr19:36161423-36161424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559284604	chr19:36161462-36161463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528016480	chr19:36161463-36161464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541739894	chr19:36161474-36161475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111312132	chr19:36161543-36161544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56170803	chr19:36161606-36161607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs563749432	chr19:36161656-36161657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533575059	chr19:36161676-36161677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146223512	chr19:36161733-36161734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570073013	chr19:36161809-36161810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531399257	chr19:36161810-36161811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529374292	chr19:36161868-36161869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117027876	chr19:36161913-36161914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78730966	chr19:36161930-36161931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
2	chr19:36149600-36164000	Weak transcription	HMEC	breast
3	chr19:36149800-36161600	Weak transcription	Osteobl	bone
4	chr19:36149800-36163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:36150000-36160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:36151200-36160800	Weak transcription	Brain Substantia Nigra	brain
7	chr19:36151200-36160800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:36152600-36160800	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:36152600-36161000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr19:36152800-36162600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:36153000-36164000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:36155400-36161000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:36155600-36164000	Weak transcription	HSMM	muscle
14	chr19:36156200-36164000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:36156400-36160600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:36156600-36160600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr19:36156600-36164200	Weak transcription	Gastric	stomach
18	chr19:36156800-36160600	Weak transcription	Fetal Intestine Small	intestine
19	chr19:36156800-36161000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:36156800-36164000	Weak transcription	Spleen	Spleen
21	chr19:36157200-36160400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:36157200-36164000	Weak transcription	Esophagus	oesophagus
23	chr19:36157400-36164200	Weak transcription	Right Ventricle	heart
24	chr19:36157600-36161800	Weak transcription	Thymus	Thymus
25	chr19:36157800-36164000	Weak transcription	Pancreas	Pancrea
26	chr19:36159600-36164000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:36160000-36160600	Enhancers	Duodenum Mucosa	Duodenum
28	chr19:36160000-36163800	Enhancers	HepG2	liver
29	chr19:36160600-36160800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr19:36160600-36161000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr19:36160600-36161200	Enhancers	Fetal Intestine Small	intestine
32	chr19:36160800-36161000	Bivalent Enhancer	Colonic Mucosa	Colon
33	chr19:36160800-36161000	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr19:36160800-36161000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
35	chr19:36160800-36161000	Bivalent Enhancer	K562	blood
36	chr19:36160800-36161200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:36160800-36161200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:36160800-36161200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr19:36161000-36161200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr19:36161000-36161200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr19:36161000-36161200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:36161000-36161200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr19:36161000-36161200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
44	chr19:36161000-36161200	Bivalent Enhancer	A549	lung
45	chr19:36161000-36161200	Enhancers	K562	blood
46	chr19:36161200-36162600	Weak transcription	K562	blood
47	chr19:36161200-36163800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:36161800-36162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:36162600-36163200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:36162600-36164000	Enhancers	K562	blood

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