Variant report

Variant	nsv528372
Chromosome Location	chr3:151210190-151218277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr3:151212728-151212825	MCF10A-Er-Src	breast:	n/a	n/a
2	FOXP2	chr3:151216764-151216988	SK-N-MC	brain:	n/a	n/a
3	MAX	chr3:151213789-151213980	K562	blood:	n/a	chr3:151213921-151213932 chr3:151213923-151213932
4	MYC	chr3:151212852-151213032	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:151214162-151214290	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr3:151216645-151217184	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr3:151218043-151218163	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:151214150-151214278	H1-hESC	embryonic stem cell:	n/a	n/a
9	RXRA	chr3:151214150-151214299	HepG2	liver:	n/a	n/a
10	SP1	chr3:151214082-151214319	HepG2	liver:	n/a	n/a
11	STAT3	chr3:151211362-151211546	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr3:151217537-151217580	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr3:151213152-151213308	MCF10A-Er-Src	breast:	n/a	n/a
14	ZBTB33	chr3:151214134-151214313	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000242119	TF binding region

Extended variants
information (count: 251 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9876367	chr3:151210190-151210191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546966928	chr3:151210191-151210192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567179584	chr3:151210200-151210201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188321138	chr3:151210206-151210207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574885027	chr3:151210247-151210248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541923986	chr3:151210269-151210270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377112401	chr3:151210276-151210277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558981644	chr3:151210293-151210294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111281977	chr3:151210304-151210305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538042538	chr3:151210326-151210327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554261778	chr3:151210358-151210359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561156282	chr3:151210375-151210376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9838789	chr3:151210388-151210389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191616406	chr3:151210416-151210417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184249745	chr3:151210438-151210439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7631871	chr3:151210452-151210453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149702937	chr3:151210461-151210462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562623955	chr3:151210462-151210463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531548267	chr3:151210479-151210480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116758779	chr3:151210489-151210490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201351841	chr3:151210533-151210534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368762917	chr3:151210534-151210535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142364842	chr3:151210535-151210536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150976240	chr3:151210541-151210542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397789656	chr3:151210545-151210546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561368883	chr3:151210552-151210553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530174717	chr3:151210556-151210557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55889781	chr3:151210566-151210567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370865004	chr3:151210567-151210568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397936195	chr3:151210570-151210571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56168503	chr3:151210577-151210578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs202239363	chr3:151210716-151210717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146426721	chr3:151210723-151210724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182114304	chr3:151210727-151210728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566916041	chr3:151210747-151210748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532384042	chr3:151210759-151210760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552871074	chr3:151210768-151210769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185478153	chr3:151210855-151210856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538456150	chr3:151210938-151210939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537212513	chr3:151210964-151210965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79391033	chr3:151211011-151211012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533682075	chr3:151211030-151211031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190832069	chr3:151211038-151211039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576805754	chr3:151211107-151211108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545447384	chr3:151211141-151211142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563720495	chr3:151211160-151211161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180833981	chr3:151211176-151211177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576209983	chr3:151211198-151211199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565932955	chr3:151211242-151211243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140108310	chr3:151211267-151211268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:151209400-151213000	Weak transcription	Ovary	ovary
2	chr3:151213000-151213600	Enhancers	Ovary	ovary
3	chr3:151216400-151217200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:151216400-151217400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:151216400-151217400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:151216600-151217200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:151216800-151217000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:151216800-151217400	Enhancers	Fetal Lung	lung
9	chr3:151217200-151217800	Enhancers	Ovary	ovary
10	chr3:151217200-151218400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:151217200-151218600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:151217400-151218400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:151217400-151219200	Weak transcription	Fetal Lung	lung
14	chr3:151217400-151219600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:151217800-151218200	Weak transcription	Ovary	ovary
16	chr3:151218200-151219000	Enhancers	Ovary	ovary

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