Variant report

Variant	esv3486322
Chromosome Location	chr3:155410094-155412301
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:
2	chr3:155406669..155408242-chr3:155411925..155413754,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs426069	chr3:155410117-155410118	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139760459	chr3:155410169-155410170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189275219	chr3:155410183-155410184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528760180	chr3:155410184-155410185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546948885	chr3:155410234-155410235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377043718	chr3:155410248-155410249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139022937	chr3:155410249-155410250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568746324	chr3:155410253-155410254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59965316	chr3:155410277-155410278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368801280	chr3:155410341-155410342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150869961	chr3:155410342-155410343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142898009	chr3:155410344-155410345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140149730	chr3:155410346-155410347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529238702	chr3:155410378-155410379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550975207	chr3:155410388-155410389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184208359	chr3:155410442-155410443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143056319	chr3:155410468-155410469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62287320	chr3:155410490-155410491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539971830	chr3:155410495-155410496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544118266	chr3:155410513-155410514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147378604	chr3:155410523-155410524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146887525	chr3:155410552-155410553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556784519	chr3:155410553-155410554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201171546	chr3:155410564-155410565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558775491	chr3:155410602-155410603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561491561	chr3:155410605-155410606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs410115	chr3:155410675-155410676	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs534812517	chr3:155410686-155410687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369610861	chr3:155410690-155410691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146074361	chr3:155410719-155410720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574690427	chr3:155410720-155410721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs447751	chr3:155410779-155410780	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556952735	chr3:155410792-155410793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575242479	chr3:155410793-155410794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188177382	chr3:155410794-155410795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs385700	chr3:155410807-155410808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs404237	chr3:155410813-155410814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs385708	chr3:155410814-155410815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563841992	chr3:155410831-155410832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573060478	chr3:155410863-155410864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540443878	chr3:155410873-155410874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370139298	chr3:155410971-155410972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147636896	chr3:155410973-155410974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562216682	chr3:155410974-155410975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529617906	chr3:155410975-155410976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550683463	chr3:155410976-155410977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199958839	chr3:155410992-155410993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562940765	chr3:155411146-155411147	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533462400	chr3:155411148-155411149	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190059916	chr3:155411335-155411336	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:20 , 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
17	chr3:155411800-155412000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:155412000-155412400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:155412000-155412800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:155412000-155414000	Enhancers	Cortex derived primary cultured neurospheres	brain

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