Variant report

Variant	esv3405919
Chromosome Location	chr3:34894548-34896696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145243401	chr3:34894565-34894566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532493778	chr3:34894569-34894570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188089692	chr3:34894574-34894575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571169065	chr3:34894582-34894583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538133496	chr3:34894639-34894640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543577638	chr3:34894666-34894667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138461864	chr3:34894682-34894683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149636877	chr3:34894707-34894708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9837182	chr3:34894749-34894750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373093725	chr3:34894869-34894870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377578775	chr3:34894910-34894911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572040339	chr3:34895006-34895007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191382964	chr3:34895014-34895015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144406900	chr3:34895035-34895036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558923980	chr3:34895045-34895046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141430951	chr3:34895046-34895047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531668324	chr3:34895068-34895069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543315333	chr3:34895159-34895160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528036104	chr3:34895168-34895169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531958038	chr3:34895181-34895182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369716635	chr3:34895226-34895227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562889913	chr3:34895247-34895248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199806872	chr3:34895310-34895311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373799703	chr3:34895313-34895314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148770341	chr3:34895315-34895316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71074342	chr3:34895322-34895323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377216261	chr3:34895327-34895328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369675902	chr3:34895330-34895331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372295566	chr3:34895333-34895334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376159225	chr3:34895336-34895337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13096391	chr3:34895339-34895340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75219356	chr3:34895342-34895343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61089342	chr3:34895345-34895346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530066544	chr3:34895348-34895349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200990316	chr3:34895349-34895350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547895463	chr3:34895353-34895354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10635172	chr3:34895357-34895358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572215402	chr3:34895393-34895394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540833870	chr3:34895444-34895445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369329648	chr3:34895445-34895446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9880012	chr3:34895512-34895513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567786881	chr3:34895531-34895532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530258415	chr3:34895576-34895577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561259794	chr3:34895598-34895599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527780589	chr3:34895643-34895644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552765311	chr3:34895647-34895648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570292523	chr3:34895650-34895651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190488875	chr3:34895725-34895726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373288814	chr3:34895733-34895734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556394083	chr3:34895756-34895757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34885600-34897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:34886000-34897000	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:34891400-34896200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:34893200-34897200	Weak transcription	Fetal Stomach	stomach
5	chr3:34893200-34897400	Weak transcription	Fetal Brain Male	brain
6	chr3:34893200-34897800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:34893600-34897400	Weak transcription	Dnd41	blood
8	chr3:34894200-34896600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:34896200-34897400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:34896400-34897000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:34896400-34898200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:34896600-34898600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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