Variant report

Variant	esv3337930
Chromosome Location	chr3:179652358-179656756
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	chr3:179656028..179658566-chr3:179661317..179663384,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547651561	chr3:179652372-179652373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570533187	chr3:179652394-179652395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191019203	chr3:179652409-179652410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183046032	chr3:179652472-179652473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369381745	chr3:179652501-179652502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564771144	chr3:179652559-179652560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570048660	chr3:179652612-179652613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535894488	chr3:179652638-179652639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555280729	chr3:179652645-179652646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150019349	chr3:179652683-179652684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7633488	chr3:179652741-179652742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544302831	chr3:179652768-179652769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571406641	chr3:179652777-179652778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372847642	chr3:179652778-179652779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59755960	chr3:179652849-179652850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200944760	chr3:179652924-179652925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546544309	chr3:179652926-179652927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577749549	chr3:179652947-179652948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543045105	chr3:179653001-179653002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563445621	chr3:179653024-179653025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144624454	chr3:179653076-179653077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147840665	chr3:179653204-179653205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141460108	chr3:179653208-179653209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187387713	chr3:179653209-179653210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527851730	chr3:179653214-179653215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377052533	chr3:179653259-179653260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142603914	chr3:179653269-179653270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564429779	chr3:179653273-179653274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533410116	chr3:179653297-179653298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549909490	chr3:179653303-179653304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190313210	chr3:179653339-179653340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183160053	chr3:179653340-179653341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535590770	chr3:179653377-179653378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150992550	chr3:179653378-179653379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533715862	chr3:179653397-179653398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113553340	chr3:179653403-179653404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28681233	chr3:179653450-179653451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534791319	chr3:179653462-179653463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112725683	chr3:179653494-179653495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140771704	chr3:179653507-179653508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577998425	chr3:179653519-179653520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537305958	chr3:179653539-179653540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556694194	chr3:179653565-179653566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573547040	chr3:179653612-179653613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187903407	chr3:179653651-179653652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559002321	chr3:179653658-179653659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192789614	chr3:179653729-179653730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184318081	chr3:179653763-179653764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564293264	chr3:179653767-179653768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533465078	chr3:179653777-179653778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179644400-179660000	Weak transcription	Pancreas	Pancrea
2	chr3:179648400-179660000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:179650600-179653000	Enhancers	Brain Hippocampus Middle	brain
4	chr3:179650600-179653600	Enhancers	Brain Substantia Nigra	brain
5	chr3:179651000-179652400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:179651800-179653200	Weak transcription	Fetal Brain Male	brain
7	chr3:179652000-179655200	Weak transcription	Dnd41	blood
8	chr3:179652000-179660200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:179652400-179653800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:179653000-179659200	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:179653200-179653400	Enhancers	Fetal Brain Male	brain
12	chr3:179653600-179660400	Weak transcription	Brain Substantia Nigra	brain
13	chr3:179653800-179654000	Genic enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:179654000-179659800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:179655200-179655800	ZNF genes & repeats	Dnd41	blood
16	chr3:179655800-179656600	Weak transcription	Dnd41	blood
17	chr3:179656600-179664200	Strong transcription	Dnd41	blood

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