Variant report

Variant	esv1795509
Chromosome Location	chr19:36847366-36852733
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	chr19:36848342..36851339-chr19:37018243..37021228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228629	chromatin interactions
ENSG00000254004	chromatin interactions

Extended variants
information (count: 199 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371817250	chr19:36847367-36847368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190132070	chr19:36847369-36847370	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143837429	chr19:36847421-36847422	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527532399	chr19:36847457-36847458	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549195163	chr19:36847490-36847491	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567567771	chr19:36847512-36847513	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538094247	chr19:36847532-36847533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10425127	chr19:36847538-36847539	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182186158	chr19:36847559-36847560	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34656490	chr19:36847574-36847575	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145854569	chr19:36847599-36847600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113931262	chr19:36847648-36847649	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572495522	chr19:36847651-36847652	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368410973	chr19:36847653-36847654	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62112627	chr19:36847742-36847743	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs187223817	chr19:36847797-36847798	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576337568	chr19:36847875-36847876	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562344931	chr19:36847918-36847919	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565551082	chr19:36847975-36847976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574634691	chr19:36848002-36848003	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563572374	chr19:36848015-36848016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541774721	chr19:36848027-36848028	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560035240	chr19:36848035-36848036	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540015037	chr19:36848054-36848055	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549207295	chr19:36848095-36848096	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148598061	chr19:36848148-36848149	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531658920	chr19:36848195-36848196	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546115049	chr19:36848209-36848210	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550130277	chr19:36848238-36848239	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559587922	chr19:36848240-36848241	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372280799	chr19:36848241-36848242	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375403688	chr19:36848248-36848249	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571506752	chr19:36848292-36848293	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548331575	chr19:36848315-36848316	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77482569	chr19:36848339-36848340	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190800212	chr19:36848362-36848363	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12976232	chr19:36848457-36848458	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs75248886	chr19:36848523-36848524	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs180863720	chr19:36848545-36848546	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs549834609	chr19:36848550-36848551	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576203386	chr19:36848579-36848580	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs80060571	chr19:36848580-36848581	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs12974922	chr19:36848604-36848605	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116215417	chr19:36848643-36848644	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201201737	chr19:36848656-36848657	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs190182366	chr19:36848657-36848658	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs113818091	chr19:36848661-36848662	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142789061	chr19:36848681-36848682	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs183133517	chr19:36848713-36848714	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538612421	chr19:36848715-36848716	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 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
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
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
Breast cancer	21509527	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
2	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36832200-36849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:36832400-36851400	Weak transcription	Fetal Brain Male	brain
7	chr19:36832600-36849600	Weak transcription	Fetal Heart	heart
8	chr19:36832800-36849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:36834000-36857400	Weak transcription	Brain Substantia Nigra	brain
10	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:36834400-36849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:36835800-36847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:36835800-36857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:36836400-36847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:36836400-36858400	Weak transcription	Osteobl	bone
17	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
18	chr19:36836600-36849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:36836600-36849800	Weak transcription	Colonic Mucosa	Colon
20	chr19:36836600-36857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:36836600-36863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:36836800-36849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:36837000-36852600	Strong transcription	Fetal Stomach	stomach
24	chr19:36838000-36849600	Weak transcription	Small Intestine	intestine
25	chr19:36838000-36851200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr19:36838000-36851200	Weak transcription	HepG2	liver
27	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
28	chr19:36838200-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:36838200-36849400	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:36838200-36855000	Weak transcription	HSMM	muscle
31	chr19:36838400-36847400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:36838600-36850400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:36839200-36848000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr19:36839400-36847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:36839400-36849600	Weak transcription	Gastric	stomach
36	chr19:36839400-36851200	Weak transcription	HSMMtube	muscle
37	chr19:36839600-36849600	Weak transcription	Pancreas	Pancrea
38	chr19:36839800-36847400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:36839800-36847400	Weak transcription	Dnd41	blood
40	chr19:36839800-36848000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:36839800-36848400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:36839800-36849800	Weak transcription	Spleen	Spleen
43	chr19:36839800-36850600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:36839800-36851200	Weak transcription	Placenta	Placenta
45	chr19:36840000-36847400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:36840000-36849600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:36840000-36849800	Weak transcription	Aorta	Aorta
48	chr19:36840000-36849800	Weak transcription	Esophagus	oesophagus
49	chr19:36840000-36855000	Weak transcription	Right Ventricle	heart
50	chr19:36840000-36856000	Weak transcription	Fetal Lung	lung

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