Variant report

Variant	esv2752925
Chromosome Location	chr3:115901310-115908310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 245 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74419206	chr3:115901315-115901316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7651707	chr3:115901347-115901348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17643182	chr3:115901357-115901358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1461136	chr3:115901373-115901374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1461137	chr3:115901390-115901391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534145448	chr3:115901406-115901407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547951178	chr3:115901430-115901431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566176371	chr3:115901469-115901470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75056138	chr3:115901500-115901501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370320130	chr3:115901513-115901514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183277914	chr3:115901523-115901524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187947323	chr3:115901546-115901547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544248605	chr3:115901554-115901555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144391317	chr3:115901578-115901579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555494944	chr3:115901629-115901630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146649199	chr3:115901634-115901635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535410053	chr3:115901712-115901713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553914570	chr3:115901728-115901729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572309019	chr3:115901732-115901733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189684401	chr3:115901745-115901746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182858100	chr3:115901774-115901775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79357967	chr3:115901820-115901821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543379760	chr3:115901837-115901838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373778127	chr3:115901863-115901864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1461138	chr3:115901908-115901909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541401544	chr3:115902005-115902006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559896234	chr3:115902006-115902007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533306956	chr3:115902065-115902066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551569821	chr3:115902162-115902163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569783143	chr3:115902170-115902171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117205640	chr3:115902187-115902188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549571672	chr3:115902189-115902190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549335627	chr3:115902222-115902223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567584194	chr3:115902223-115902224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56357456	chr3:115902232-115902233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538231609	chr3:115902291-115902292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553826580	chr3:115902347-115902348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548227654	chr3:115902353-115902354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187771505	chr3:115902363-115902364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192893982	chr3:115902472-115902473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143861560	chr3:115902487-115902488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184915639	chr3:115902491-115902492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35206823	chr3:115902533-115902534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543188492	chr3:115902536-115902537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555332517	chr3:115902634-115902635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187295745	chr3:115902654-115902655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541027320	chr3:115902669-115902670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559580430	chr3:115902679-115902680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116006696	chr3:115902696-115902697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9875609	chr3:115902720-115902721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:62)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115898600-115907000	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:115903000-115904400	Enhancers	Brain Angular Gyrus	brain
3	chr3:115903200-115907800	Enhancers	Brain Substantia Nigra	brain
4	chr3:115903400-115903600	Enhancers	Brain Hippocampus Middle	brain
5	chr3:115903400-115904200	Enhancers	Brain Anterior Caudate	brain
6	chr3:115903400-115904400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:115903600-115904800	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:115903600-115907400	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:115904200-115904400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:115904200-115905600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:115904400-115905600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:115904400-115905800	Weak transcription	Brain Angular Gyrus	brain
13	chr3:115904600-115905600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:115904600-115905600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:115904800-115907400	Enhancers	Brain Hippocampus Middle	brain
16	chr3:115905000-115907800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:115905600-115906400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:115905600-115907200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr3:115905600-115907600	Enhancers	Brain Anterior Caudate	brain
20	chr3:115905800-115907800	Enhancers	Brain Angular Gyrus	brain
21	chr3:115906400-115907200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:115907000-115907400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:115907000-115907400	Enhancers	Colon Smooth Muscle	Colon
24	chr3:115907000-115907800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:115907200-115907400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:115907200-115907400	Enhancers	NHDF-Ad	bronchial
27	chr3:115907200-115907600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:115907400-115909000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:115907400-115909600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:115907400-115910800	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:115907400-115916400	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:115907600-115908600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:115907600-115911000	Weak transcription	Brain Anterior Caudate	brain
34	chr3:115907800-115910800	Weak transcription	Brain Substantia Nigra	brain
35	chr3:115907800-115919800	Weak transcription	Brain Angular Gyrus	brain

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