Variant report

Variant	esv1812008
Chromosome Location	chr3:156092164-156093505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156089108..156092383-chr3:156093518..156096511,3	K562	blood:
2	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:
3	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4989481	chr3:156092164-156092165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs816545	chr3:156092170-156092171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574772056	chr3:156092207-156092208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574649039	chr3:156092239-156092240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557189918	chr3:156092242-156092243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147085921	chr3:156092251-156092252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545541054	chr3:156092302-156092303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375448904	chr3:156092405-156092406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528200434	chr3:156092443-156092444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138595645	chr3:156092537-156092538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572223131	chr3:156092589-156092590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73873344	chr3:156092590-156092591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531730697	chr3:156092632-156092633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190851039	chr3:156092665-156092666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546092967	chr3:156092711-156092712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373489945	chr3:156092730-156092731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550863415	chr3:156092856-156092857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562897272	chr3:156092954-156092955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549861796	chr3:156093021-156093022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112498224	chr3:156093087-156093088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113263517	chr3:156093094-156093095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530652978	chr3:156093170-156093171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182234788	chr3:156093186-156093187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138729431	chr3:156093190-156093191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549391940	chr3:156093207-156093208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187728485	chr3:156093208-156093209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78159212	chr3:156093244-156093245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77418390	chr3:156093257-156093258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577300130	chr3:156093273-156093274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575312527	chr3:156093306-156093307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539597075	chr3:156093313-156093314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73873345	chr3:156093344-156093345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144747665	chr3:156093354-156093355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76885719	chr3:156093389-156093390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192689742	chr3:156093421-156093422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156088600-156096000	Weak transcription	Placenta	Placenta
2	chr3:156089600-156092600	Enhancers	HSMMtube	muscle
3	chr3:156089800-156092400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:156090000-156092200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:156090000-156092200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:156090200-156092200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:156090200-156092400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:156090800-156094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:156090800-156100600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:156091200-156092600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:156091800-156092600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:156091800-156092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:156091800-156095000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:156092400-156101600	Weak transcription	Aorta	Aorta
15	chr3:156092800-156093000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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