Variant report

Variant	esv3486316
Chromosome Location	chr3:155410870-155411397
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	chr3:155409079..155411768-chr3:155413366..155415925,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540443878	chr3:155410873-155410874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370139298	chr3:155410971-155410972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147636896	chr3:155410973-155410974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562216682	chr3:155410974-155410975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529617906	chr3:155410975-155410976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550683463	chr3:155410976-155410977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199958839	chr3:155410992-155410993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562940765	chr3:155411146-155411147	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533462400	chr3:155411148-155411149	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190059916	chr3:155411335-155411336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368911543	chr3:155411388-155411389	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371445611	chr3:155411395-155411396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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	22522925	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155395000-155416800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:155395200-155412000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:155399800-155422000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:155400600-155421000	Weak transcription	Fetal Intestine Small	intestine
5	chr3:155400800-155418400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:155408000-155411800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:155408400-155411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:155408400-155413400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:155408800-155416400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:155408800-155418600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:155409000-155419200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:155409000-155419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:155409200-155418400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:155409200-155422200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:155411000-155414000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:155411000-155420600	Weak transcription	Fetal Intestine Large	intestine

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