Variant report

Variant	esv3393660
Chromosome Location	chr3:84108311-84132206
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	chr1:234747206..234748910-chr3:84128270..84130556,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-3	chr3:84122482-84122569	l_2403_chr3:84085490-84141354_heart

Extended variants
information (count: 353 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185415749	chr3:84115826-84115827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369357197	chr3:84115848-84115849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546114050	chr3:84115883-84115884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550347570	chr3:84115898-84115899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190222849	chr3:84115973-84115974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536134260	chr3:84116001-84116002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34801360	chr3:84116020-84116021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6548933	chr3:84116027-84116028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562707196	chr3:84116039-84116040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371987217	chr3:84116049-84116050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572429006	chr3:84116055-84116056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368744539	chr3:84116058-84116059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558168642	chr3:84116061-84116062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144257935	chr3:84116099-84116100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116799807	chr3:84116108-84116109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374334929	chr3:84116137-84116138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182886332	chr3:84116178-84116179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187519342	chr3:84116189-84116190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559118455	chr3:84116230-84116231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542066836	chr3:84116233-84116234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191863029	chr3:84116244-84116245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183718468	chr3:84116254-84116255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80062599	chr3:84116320-84116321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79874755	chr3:84116343-84116344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2091488	chr3:84116366-84116367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564520827	chr3:84116417-84116418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112028661	chr3:84116437-84116438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141312791	chr3:84116469-84116470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2091489	chr3:84116522-84116523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568557971	chr3:84116574-84116575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535647915	chr3:84116577-84116578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547591906	chr3:84116599-84116600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545753244	chr3:84116628-84116629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530105016	chr3:84116645-84116646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114472816	chr3:84116657-84116658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1528053	chr3:84116673-84116674	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373130663	chr3:84116702-84116703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558105644	chr3:84116766-84116767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189110497	chr3:84116770-84116771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77400054	chr3:84116796-84116797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80070214	chr3:84116804-84116805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192247921	chr3:84116814-84116815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542005189	chr3:84116837-84116838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182957279	chr3:84116844-84116845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572368798	chr3:84116872-84116873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546147658	chr3:84116900-84116901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564491856	chr3:84116924-84116925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114315837	chr3:84116941-84116942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118079425	chr3:84116989-84116990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533453645	chr3:84117104-84117105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
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
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:84115800-84116600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:84116000-84116200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:84116200-84116600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:84116200-84116800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:84116200-84117000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:84116200-84124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:84116400-84116800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:84116800-84122000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:84119800-84120000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:84119800-84120000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:84121200-84121800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr3:84121400-84122200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:84121600-84122600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr3:84121800-84122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:84122000-84123400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:84122200-84122400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:84122400-84122800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr3:84122400-84123400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr3:84122800-84124200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:84122800-84125200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:84123000-84123200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:84124000-84124200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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