Variant report

Variant	nsv997874
Chromosome Location	chr3:89188275-89279573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:89207136..89210104-chr3:89214868..89216855,2	MCF-7	breast:
2	chr3:89223473..89225320-chr3:89226807..89228662,2	K562	blood:
3	chr10:75910543..75911043-chr3:89208197..89208700,2	Hela-S3	cervix:
4	chr3:89223473..89225320-chr3:89226807..89228662,2	K562	blood:
5	chr3:89207136..89210104-chr3:89214868..89216855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156110	chromatin interactions
ENSG00000185009	chromatin interactions

Extended variants
information (count: 2868 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2868 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139271888	chr3:89188276-89188277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564532110	chr3:89188299-89188300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576542514	chr3:89188309-89188310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544151706	chr3:89188314-89188315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562398094	chr3:89188458-89188459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529597498	chr3:89188471-89188472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547854306	chr3:89188482-89188483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559781096	chr3:89188489-89188490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146590651	chr3:89188559-89188560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377439923	chr3:89188564-89188565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551811619	chr3:89188603-89188604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182407526	chr3:89188653-89188654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537278655	chr3:89188656-89188657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140957693	chr3:89188680-89188681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535145886	chr3:89188698-89188699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567262899	chr3:89188699-89188700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186682300	chr3:89188704-89188705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116244556	chr3:89188834-89188835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577523172	chr3:89188844-89188845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555272528	chr3:89188855-89188856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538368308	chr3:89188868-89188869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556987939	chr3:89188876-89188877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575229996	chr3:89188902-89188903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146745642	chr3:89188903-89188904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76890088	chr3:89188926-89188927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574434592	chr3:89188927-89188928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374134913	chr3:89188949-89188950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541698899	chr3:89188986-89188987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148907913	chr3:89189020-89189021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12637863	chr3:89189085-89189086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545194476	chr3:89189106-89189107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563839169	chr3:89189117-89189118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530903266	chr3:89189136-89189137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548811136	chr3:89189162-89189163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576499000	chr3:89189212-89189213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567073812	chr3:89189215-89189216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534051393	chr3:89189256-89189257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546453661	chr3:89189286-89189287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193270188	chr3:89189295-89189296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538658054	chr3:89189296-89189297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373469299	chr3:89189327-89189328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568976687	chr3:89189338-89189339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536352245	chr3:89189359-89189360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556000238	chr3:89189382-89189383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185405638	chr3:89189428-89189429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545491418	chr3:89189617-89189618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9838527	chr3:89189667-89189668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190255046	chr3:89189695-89189696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578175616	chr3:89189708-89189709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148377954	chr3:89189724-89189725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Obesity	19966786	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89174000-89193200	Weak transcription	Fetal Brain Female	brain
2	chr3:89184600-89190600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:89190600-89190800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:89190800-89193200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:89191400-89191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:89191800-89194600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:89193200-89193600	Enhancers	Fetal Brain Female	brain
8	chr3:89193200-89193800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:89193600-89205800	Weak transcription	Fetal Brain Female	brain
10	chr3:89194600-89195600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:89194600-89195600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:89194800-89195600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:89195000-89195600	Enhancers	NH-A	brain
14	chr3:89195200-89195600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:89195200-89195600	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:89195200-89195600	Enhancers	NHEK	skin
17	chr3:89203000-89203200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:89204000-89205000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:89204200-89204800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:89204600-89204800	Enhancers	Brain Angular Gyrus	brain
21	chr3:89204600-89206000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:89204800-89205200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr3:89204800-89205400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:89204800-89207200	Enhancers	Fetal Lung	lung
25	chr3:89205000-89205400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:89205000-89205400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:89205000-89205400	Active TSS	Brain Anterior Caudate	brain
28	chr3:89205000-89205400	Active TSS	Brain Hippocampus Middle	brain
29	chr3:89205000-89205400	Active TSS	Right Atrium	heart
30	chr3:89205000-89205400	Active TSS	NHDF-Ad	bronchial
31	chr3:89205000-89205400	Active TSS	Osteobl	bone
32	chr3:89205000-89205600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:89205000-89205600	Active TSS	Brain Substantia Nigra	brain
34	chr3:89205000-89205600	Active TSS	Stomach Smooth Muscle	stomach
35	chr3:89205200-89205400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr3:89205200-89205600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:89205400-89205800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:89205400-89205800	Enhancers	Brain Hippocampus Middle	brain
39	chr3:89205400-89206200	Weak transcription	Brain Anterior Caudate	brain
40	chr3:89205600-89205800	Enhancers	Brain Substantia Nigra	brain
41	chr3:89205600-89205800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:89205600-89206200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:89205600-89206200	Enhancers	Fetal Stomach	stomach
44	chr3:89205800-89206200	Enhancers	Stomach Smooth Muscle	stomach
45	chr3:89205800-89206800	Enhancers	Fetal Brain Female	brain
46	chr3:89205800-89210200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:89206000-89211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:89206200-89206400	Enhancers	Brain Anterior Caudate	brain
49	chr3:89206800-89207000	Enhancers	Fetal Brain Male	brain
50	chr3:89206800-89208200	Weak transcription	Fetal Brain Female	brain

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