Variant report

Variant	esv3354523
Chromosome Location	chr3:136016462-136020760
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	chr3:136014329..136016765-chr3:136018806..136021350,2	MCF-7	breast:
2	chr3:136014329..136016765-chr3:136018806..136021350,2	MCF-7	breast:

Extended variants
information (count: 297 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142393567	chr3:136016462-136016463	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538326753	chr3:136016475-136016476	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56336182	chr3:136016478-136016479	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs568796284	chr3:136016548-136016549	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565353954	chr3:136016566-136016567	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190813214	chr3:136016598-136016599	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555248267	chr3:136016599-136016600	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77565170	chr3:136016606-136016607	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574992568	chr3:136016640-136016641	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114618677	chr3:136016659-136016660	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557269731	chr3:136016667-136016668	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573494493	chr3:136016682-136016683	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546302797	chr3:136016718-136016719	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375760796	chr3:136016755-136016756	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558665823	chr3:136016771-136016772	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559849840	chr3:136016782-136016783	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372617301	chr3:136016784-136016785	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147939913	chr3:136016791-136016792	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141615209	chr3:136016804-136016805	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200614840	chr3:136016810-136016811	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529945350	chr3:136016817-136016818	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200865436	chr3:136016834-136016835	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373071606	chr3:136016843-136016844	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375999824	chr3:136016844-136016845	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150555106	chr3:136016845-136016846	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2228310	chr3:136016889-136016890	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201984177	chr3:136016892-136016893	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532142254	chr3:136016896-136016897	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77820367	chr3:136016902-136016903	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183013046	chr3:136016907-136016908	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142730126	chr3:136016912-136016913	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187345727	chr3:136016922-136016923	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372020160	chr3:136016928-136016929	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374909979	chr3:136016929-136016930	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534429268	chr3:136016981-136016982	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537321262	chr3:136016986-136016987	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557564553	chr3:136016987-136016988	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554485294	chr3:136017000-136017001	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577526699	chr3:136017019-136017020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147067564	chr3:136017030-136017031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566564639	chr3:136017036-136017037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573330899	chr3:136017040-136017041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542259237	chr3:136017049-136017050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112277487	chr3:136017072-136017073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138246026	chr3:136017113-136017114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574712988	chr3:136017147-136017148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113471858	chr3:136017155-136017156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535701141	chr3:136017161-136017162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201768092	chr3:136017169-136017170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs386666185	chr3:136017174-136017175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	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
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135970600-136039400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:135976200-136021600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:135981200-136052000	Weak transcription	NH-A	brain
4	chr3:135981600-136020400	Weak transcription	HUVEC	blood vessel
5	chr3:135998000-136040200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:135999800-136016800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:135999800-136019000	Weak transcription	NHEK	skin
8	chr3:135999800-136038200	Weak transcription	Fetal Brain Male	brain
9	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
10	chr3:136000000-136016600	Weak transcription	Thymus	Thymus
11	chr3:136000000-136024600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:136000200-136038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:136001200-136019200	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:136002000-136017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:136004600-136021400	Weak transcription	HMEC	breast
16	chr3:136004600-136022000	Weak transcription	NHDF-Ad	bronchial
17	chr3:136005200-136019200	Weak transcription	Osteobl	bone
18	chr3:136009400-136023000	Strong transcription	Dnd41	blood
19	chr3:136010000-136017800	Strong transcription	Primary T cells from cord blood	blood
20	chr3:136010000-136021000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:136010000-136021000	Strong transcription	Liver	Liver
22	chr3:136010200-136021200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:136010400-136021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:136010400-136021000	Strong transcription	Fetal Muscle Leg	muscle
25	chr3:136010400-136021000	Strong transcription	Fetal Stomach	stomach
26	chr3:136010600-136018000	Weak transcription	Fetal Heart	heart
27	chr3:136010600-136031400	Weak transcription	Stomach Mucosa	stomach
28	chr3:136010800-136020600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:136011000-136024600	Weak transcription	Psoas Muscle	Psoas
30	chr3:136011200-136020800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:136011800-136018000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:136011800-136020600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:136011800-136021000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:136012000-136017800	Strong transcription	Lung	lung
35	chr3:136012000-136020800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:136012000-136020800	Strong transcription	Adipose Nuclei	Adipose
37	chr3:136012000-136021200	Strong transcription	Brain Substantia Nigra	brain
38	chr3:136012200-136017600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:136012200-136020600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:136012200-136020600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr3:136012200-136021000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:136012200-136021200	Strong transcription	Brain Hippocampus Middle	brain
43	chr3:136012200-136021200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr3:136012400-136018000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:136012400-136020800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr3:136012400-136021200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr3:136012600-136020600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:136012600-136020800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:136012600-136020800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr3:136012600-136021000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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