Variant report

Variant	esv2442002
Chromosome Location	chr3:145931005-145932512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529343886	chr3:145931050-145931051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550283015	chr3:145931087-145931088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372227640	chr3:145931121-145931122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60242461	chr3:145931137-145931138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139110996	chr3:145931144-145931145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539474434	chr3:145931182-145931183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187660326	chr3:145931186-145931187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11716310	chr3:145931238-145931239	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552172356	chr3:145931289-145931290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529743848	chr3:145931370-145931371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537350744	chr3:145931387-145931388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555552990	chr3:145931405-145931406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573901242	chr3:145931410-145931411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191775872	chr3:145931438-145931439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552827261	chr3:145931484-145931485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182510434	chr3:145931543-145931544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34839095	chr3:145931580-145931581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564431622	chr3:145931659-145931660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370726623	chr3:145931712-145931713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531505632	chr3:145931727-145931728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13326891	chr3:145931762-145931763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543710787	chr3:145931790-145931791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561920163	chr3:145931883-145931884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202042341	chr3:145931914-145931915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199997531	chr3:145931915-145931916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200960369	chr3:145931917-145931918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188021332	chr3:145931919-145931920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375311697	chr3:145931927-145931928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111782552	chr3:145931958-145931959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34318719	chr3:145932006-145932007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567953837	chr3:145932034-145932035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149525596	chr3:145932137-145932138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547857700	chr3:145932190-145932191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34449824	chr3:145932192-145932193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35984403	chr3:145932197-145932198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566085654	chr3:145932199-145932200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368219258	chr3:145932209-145932210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372314327	chr3:145932210-145932211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371123606	chr3:145932289-145932290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533349591	chr3:145932300-145932301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551757310	chr3:145932369-145932370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73865353	chr3:145932399-145932400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192589131	chr3:145932459-145932460	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144144777	chr3:145932471-145932472	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549313502	chr3:145932508-145932509	Weak transcription ZNF genes & repeats Strong transcription Enhancers	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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145897000-145933600	Weak transcription	Fetal Stomach	stomach
2	chr3:145903000-145934800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:145905000-145933600	Weak transcription	NHLF	lung
4	chr3:145907000-145938600	Weak transcription	Fetal Intestine Small	intestine
5	chr3:145907600-145939200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:145908200-145936400	Weak transcription	A549	lung
7	chr3:145909600-145939200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:145910400-145932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:145910400-145940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:145913800-145939200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:145914200-145937000	Weak transcription	Placenta	Placenta
12	chr3:145914600-145940200	Weak transcription	Gastric	stomach
13	chr3:145914800-145940200	Weak transcription	Psoas Muscle	Psoas
14	chr3:145914800-145940400	Weak transcription	Spleen	Spleen
15	chr3:145917800-145940400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:145918000-145940400	Weak transcription	Pancreas	Pancrea
17	chr3:145918400-145940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:145919000-145934800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:145920600-145940600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:145921600-145940200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:145922000-145934800	Weak transcription	Left Ventricle	heart
22	chr3:145922200-145935000	Weak transcription	NHDF-Ad	bronchial
23	chr3:145922600-145933400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:145922600-145940400	Weak transcription	Lung	lung
25	chr3:145924400-145939200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:145924400-145944000	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:145924400-145945200	Weak transcription	HSMMtube	muscle
28	chr3:145924600-145934400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:145924600-145937200	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:145924600-145939000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:145924600-145940200	Weak transcription	Aorta	Aorta
32	chr3:145924800-145932400	Weak transcription	Fetal Lung	lung
33	chr3:145924800-145933400	Weak transcription	Fetal Intestine Large	intestine
34	chr3:145924800-145935000	Weak transcription	HepG2	liver
35	chr3:145925000-145945600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:145925200-145933200	Weak transcription	Adipose Nuclei	Adipose
37	chr3:145925200-145933400	Weak transcription	Ovary	ovary
38	chr3:145925400-145952800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:145925600-145933600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:145925600-145934600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:145925600-145950800	Weak transcription	Fetal Kidney	kidney
42	chr3:145925800-145932000	Weak transcription	Liver	Liver
43	chr3:145926000-145933400	Weak transcription	HUVEC	blood vessel
44	chr3:145927200-145933400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr3:145927600-145938400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:145929000-145932800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:145930000-145933400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:145930200-145931400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:145930400-145931200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:145931200-145932000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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