Variant report

Variant	esv1835637
Chromosome Location	chr3:102540123-102635852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
2	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
3	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:
4	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:

Extended variants
information (count: 499 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576339014	chr3:102547808-102547809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114770935	chr3:102547809-102547810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116366058	chr3:102547860-102547861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533210759	chr3:102547936-102547937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146324339	chr3:102547975-102547976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112227612	chr3:102548001-102548002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1705928	chr3:102548031-102548032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs76704940	chr3:102548061-102548062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549050043	chr3:102548063-102548064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139633156	chr3:102548071-102548072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537837486	chr3:102548079-102548080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550251562	chr3:102548119-102548120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571886709	chr3:102548126-102548127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73864001	chr3:102548134-102548135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543743291	chr3:102548137-102548138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553961601	chr3:102548141-102548142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183886600	chr3:102548147-102548148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375012131	chr3:102548161-102548162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9854906	chr3:102548173-102548174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12054329	chr3:102548213-102548214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543798288	chr3:102548275-102548276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114113460	chr3:102548288-102548289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577988874	chr3:102548297-102548298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367792690	chr3:102548302-102548303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369367466	chr3:102548341-102548342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541629156	chr3:102548342-102548343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372299766	chr3:102548354-102548355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371408727	chr3:102548357-102548358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372630841	chr3:102548359-102548360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377268540	chr3:102548363-102548364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368628080	chr3:102548365-102548366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527375892	chr3:102548367-102548368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374708248	chr3:102548371-102548372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187212261	chr3:102548373-102548374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201212771	chr3:102548374-102548375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375405857	chr3:102548376-102548377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545292068	chr3:102548386-102548387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371591829	chr3:102548410-102548411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560413323	chr3:102548412-102548413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527440260	chr3:102548432-102548433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542396762	chr3:102548447-102548448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145369116	chr3:102548456-102548457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566873884	chr3:102548463-102548464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531234649	chr3:102548469-102548470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1705929	chr3:102548543-102548544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1694183	chr3:102548553-102548554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148796901	chr3:102548578-102548579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1694184	chr3:102548591-102548592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs1705930	chr3:102548747-102548748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75505461	chr3:102548752-102548753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102547800-102548800	Weak transcription	Gastric	stomach
2	chr3:102548800-102549200	Strong transcription	Gastric	stomach
3	chr3:102549200-102550000	ZNF genes & repeats	Gastric	stomach
4	chr3:102549400-102549800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:102549600-102550200	Enhancers	Pancreas	Pancrea
6	chr3:102549800-102550000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:102566200-102566800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:102566400-102566800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:102566400-102567000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:102566400-102567200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr3:102574000-102574200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:102601400-102601600	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:102601800-102602800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:102602800-102603200	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:102603000-102605000	Enhancers	HepG2	liver
16	chr3:102615400-102615600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:102615400-102616200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:102615600-102616200	Enhancers	HSMM	muscle
19	chr3:102615800-102616400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:102615800-102616400	Enhancers	Ovary	ovary
21	chr3:102623000-102623800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:102628600-102629200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:102628800-102629200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:102629000-102629400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:102629200-102629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:102629400-102629800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:102629600-102630000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:102629800-102631400	Enhancers	HUES48 Cell Line	embryonic stem cell

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