Variant report

Variant	esv3332632
Chromosome Location	chr3:90436362-90469360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:90451070..90451591-chr6:58777113..58777718,3	MCF-7	breast:
2	chr3:90451069..90451589-chr6:58776919..58777844,3	MCF-7	breast:
3	chr3:90450069..90451571-chr6:58776178..58778913,3	MCF-7	breast:
4	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:
5	chr3:90451071..90451591-chr6:58777202..58777887,2	MCF-7	breast:

Extended variants
information (count: 4398 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:4398 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201305830	chr3:90436366-90436367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574942716	chr3:90436372-90436373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201898151	chr3:90436377-90436378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183622191	chr3:90436382-90436383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145240699	chr3:90436385-90436386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367886759	chr3:90436398-90436399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111971623	chr3:90436406-90436407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188616760	chr3:90436407-90436408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546502202	chr3:90436408-90436409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191814155	chr3:90436428-90436429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142345048	chr3:90436442-90436443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552145474	chr3:90436443-90436444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530542579	chr3:90436455-90436456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550265928	chr3:90436458-90436459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182445532	chr3:90436460-90436461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151184168	chr3:90436464-90436465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200218203	chr3:90436475-90436476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546273792	chr3:90436476-90436477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566359475	chr3:90436479-90436480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570597586	chr3:90436504-90436505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186899959	chr3:90436512-90436513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201093225	chr3:90436516-90436517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552462946	chr3:90436535-90436536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546691489	chr3:90436537-90436538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191341197	chr3:90436551-90436552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140348355	chr3:90436555-90436556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145527496	chr3:90436557-90436558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113008637	chr3:90436602-90436603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201817892	chr3:90436606-90436607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556980197	chr3:90436611-90436612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534319133	chr3:90436628-90436629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146525063	chr3:90436630-90436631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577388890	chr3:90436633-90436634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546045742	chr3:90436636-90436637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563204334	chr3:90436649-90436650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375011736	chr3:90436658-90436659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575492522	chr3:90436659-90436660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576613176	chr3:90436665-90436666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542114562	chr3:90436674-90436675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539490693	chr3:90436675-90436676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560585289	chr3:90436688-90436689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201310461	chr3:90436691-90436692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529621201	chr3:90436706-90436707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199560683	chr3:90436707-90436708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559782690	chr3:90436716-90436717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532348425	chr3:90436733-90436734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190393065	chr3:90436738-90436739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569033709	chr3:90436743-90436744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531545656	chr3:90436783-90436784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553670157	chr3:90436785-90436786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:90430200-90437600	Weak transcription	Fetal Heart	heart
2	chr3:90437400-90445400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr3:90437600-90438800	Active TSS	Fetal Heart	heart
4	chr3:90437800-90444600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr3:90438000-90440600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:90438200-90438800	Enhancers	Dnd41	blood
7	chr3:90438600-90440000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr3:90438800-90440000	ZNF genes & repeats	Dnd41	blood
9	chr3:90439600-90440000	Active TSS	Aorta	Aorta
10	chr3:90439600-90440000	ZNF genes & repeats	Liver	Liver
11	chr3:90439600-90440000	Active TSS	Ovary	ovary
12	chr3:90439600-90440000	Active TSS	Right Atrium	heart
13	chr3:90439600-90440000	Active TSS	Right Ventricle	heart
14	chr3:90439600-90440200	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr3:90439600-90440400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr3:90439600-90440800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr3:90439600-90444000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:90439800-90440000	ZNF genes & repeats	NH-A	brain
19	chr3:90440000-90440800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:90440000-90441000	Weak transcription	Dnd41	blood
21	chr3:90440000-90441800	Weak transcription	Aorta	Aorta
22	chr3:90440000-90441800	Weak transcription	NH-A	brain
23	chr3:90440200-90441800	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:90440800-90441000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:90441000-90441200	Enhancers	Dnd41	blood
26	chr3:90441000-90441800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:90441200-90441600	Weak transcription	Dnd41	blood
28	chr3:90441600-90443200	Enhancers	Dnd41	blood
29	chr3:90441800-90442000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:90441800-90442000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr3:90441800-90442000	ZNF genes & repeats	Liver	Liver
32	chr3:90441800-90442000	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr3:90441800-90442000	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr3:90441800-90442200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:90441800-90442200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:90441800-90442200	Active TSS	Aorta	Aorta
37	chr3:90441800-90442200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
38	chr3:90441800-90442200	ZNF genes & repeats	NH-A	brain
39	chr3:90441800-90444200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr3:90442000-90442200	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr3:90442000-90442200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
42	chr3:90442000-90442200	ZNF genes & repeats	HUVEC	blood vessel
43	chr3:90442200-90443200	Weak transcription	Aorta	Aorta
44	chr3:90442200-90443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:90442200-90447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr3:90442200-90447800	Weak transcription	NH-A	brain
47	chr3:90442400-90443200	Weak transcription	HUVEC	blood vessel
48	chr3:90443200-90443400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:90443200-90443800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr3:90443200-90443800	ZNF genes & repeats	Dnd41	blood

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