Variant report

Variant	esv1805538
Chromosome Location	chr3:138255198-138266635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 447 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs611134	chr3:138255198-138255199	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141962605	chr3:138255217-138255218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535949577	chr3:138255295-138255296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117644093	chr3:138255327-138255328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12633696	chr3:138255333-138255334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544392926	chr3:138255340-138255341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56055821	chr3:138255380-138255381	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146261437	chr3:138255382-138255383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537210	chr3:138255405-138255406	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs560093526	chr3:138255508-138255509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs609797	chr3:138255521-138255522	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs555221968	chr3:138255530-138255531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78712950	chr3:138255618-138255619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569232380	chr3:138255671-138255672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs814022	chr3:138255710-138255711	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs139430546	chr3:138255752-138255753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551014853	chr3:138255800-138255801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369423346	chr3:138255843-138255844	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535134663	chr3:138255844-138255845	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs386398029	chr3:138255860-138255861	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs57447148	chr3:138255861-138255862	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376899020	chr3:138255862-138255863	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192054758	chr3:138255887-138255888	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs570964244	chr3:138255900-138255901	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7636924	chr3:138255903-138255904	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547024778	chr3:138255970-138255971	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373844200	chr3:138255975-138255976	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368619603	chr3:138255979-138255980	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116344516	chr3:138255981-138255982	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371923792	chr3:138256018-138256019	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs143351944	chr3:138256028-138256029	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200766916	chr3:138256033-138256034	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147011001	chr3:138256034-138256035	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147653800	chr3:138256045-138256046	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569327479	chr3:138256051-138256052	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368223946	chr3:138256093-138256094	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs372060625	chr3:138256157-138256158	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538352932	chr3:138256158-138256159	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376736429	chr3:138256162-138256163	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs557925080	chr3:138256176-138256177	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201412640	chr3:138256177-138256178	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371557652	chr3:138256186-138256187	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184556314	chr3:138256187-138256188	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200500267	chr3:138256200-138256201	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs573616065	chr3:138256220-138256221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542010	chr3:138256252-138256253	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs368904129	chr3:138256267-138256268	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189313126	chr3:138256290-138256291	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531263722	chr3:138256300-138256301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs77679682	chr3:138256320-138256321	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138194000-138260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:138209800-138258600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:138210800-138260600	Weak transcription	Colonic Mucosa	Colon
4	chr3:138211200-138260600	Weak transcription	Brain Angular Gyrus	brain
5	chr3:138211800-138260600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:138214400-138260600	Weak transcription	Right Ventricle	heart
7	chr3:138219400-138263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:138225400-138259600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:138231200-138260600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:138232000-138258200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:138232000-138260600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:138232200-138260600	Weak transcription	Left Ventricle	heart
13	chr3:138232200-138260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:138235600-138260600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:138236000-138260000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:138236000-138264800	Weak transcription	Fetal Heart	heart
17	chr3:138236200-138260000	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:138237200-138260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:138237400-138258400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:138237400-138260400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:138237400-138260600	Weak transcription	Aorta	Aorta
22	chr3:138237600-138260600	Weak transcription	Brain Substantia Nigra	brain
23	chr3:138239800-138277200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:138240600-138260600	Weak transcription	Pancreas	Pancrea
25	chr3:138240800-138257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:138240800-138257000	Weak transcription	Lung	lung
27	chr3:138240800-138257600	Weak transcription	Fetal Brain Female	brain
28	chr3:138240800-138257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:138240800-138260600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:138241000-138260600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:138244600-138259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:138246600-138259200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:138246800-138260600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:138247600-138257000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:138247600-138257000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:138247600-138258200	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:138247600-138258600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:138247800-138257000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:138247800-138260000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:138247800-138260600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:138248000-138257800	Weak transcription	Fetal Stomach	stomach
42	chr3:138248200-138259000	Weak transcription	Thymus	Thymus
43	chr3:138250600-138256000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:138252800-138257000	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:138253200-138256400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:138253800-138257000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:138254200-138257200	Strong transcription	Dnd41	blood
48	chr3:138254200-138260600	Weak transcription	Ovary	ovary
49	chr3:138254400-138255800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:138254600-138255800	Weak transcription	Primary hematopoietic stem cells	blood

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