Variant report

Variant	esv3342282
Chromosome Location	chr3:140433487-140436235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:140433649..140435909-chr3:140440994..140443307,2	K562	blood:
2	chr3:140435248..140437189-chr3:140439215..140440913,2	K562	blood:
3	chr3:140425316..140427124-chr3:140431791..140433516,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMNAT3-10	chr3:140434525-140435054	refGeneNc_2651_NR_027070

Extended variants
information (count: 140 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547470277	chr3:140433491-140433492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113197722	chr3:140433583-140433584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79128538	chr3:140433585-140433586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201504510	chr3:140433600-140433601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62268351	chr3:140433601-140433602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72977087	chr3:140433614-140433615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558204541	chr3:140433632-140433633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570171156	chr3:140433655-140433656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77655116	chr3:140433661-140433662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556124979	chr3:140433674-140433675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574385771	chr3:140433682-140433683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75237421	chr3:140433717-140433718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553500374	chr3:140433721-140433722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571964143	chr3:140433780-140433781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553268727	chr3:140433812-140433813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34014522	chr3:140433833-140433834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs72977090	chr3:140433869-140433870	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531438443	chr3:140433907-140433908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184004623	chr3:140433918-140433919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561696048	chr3:140433942-140433943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67352512	chr3:140433958-140433959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10935394	chr3:140433959-140433960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114750327	chr3:140434057-140434058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533323686	chr3:140434077-140434078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551617113	chr3:140434102-140434103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570141287	chr3:140434107-140434108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188790444	chr3:140434123-140434124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549586841	chr3:140434137-140434138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149681678	chr3:140434140-140434141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535007247	chr3:140434171-140434172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553605220	chr3:140434176-140434177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201954099	chr3:140434177-140434178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373466268	chr3:140434193-140434194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72493195	chr3:140434201-140434202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181594681	chr3:140434203-140434204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544127729	chr3:140434225-140434226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10935395	chr3:140434249-140434250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2649857	chr3:140434286-140434287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2649856	chr3:140434319-140434320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543254821	chr3:140434335-140434336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2649855	chr3:140434340-140434341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2649854	chr3:140434357-140434358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561555386	chr3:140434402-140434403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2649853	chr3:140434417-140434418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533038806	chr3:140434422-140434423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376114941	chr3:140434440-140434441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573455709	chr3:140434441-140434442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186150772	chr3:140434445-140434446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200056896	chr3:140434451-140434452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs66461775	chr3:140434452-140434453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
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
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140428000-140436600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:140428600-140435600	Weak transcription	Pancreas	Pancrea
3	chr3:140431600-140437200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:140431800-140435200	Weak transcription	GM12878-XiMat	blood
5	chr3:140432600-140434000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:140432600-140434000	Enhancers	HepG2	liver
7	chr3:140432800-140434000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:140433200-140433600	Enhancers	Ovary	ovary
9	chr3:140433200-140434000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:140433400-140434000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:140433400-140435200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:140433600-140434200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:140433800-140434000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:140433800-140434200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:140433800-140434200	Enhancers	Right Ventricle	heart
16	chr3:140434000-140434200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:140434000-140434200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:140434000-140434200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:140434000-140434200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:140434000-140435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:140434000-140435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:140434000-140438200	Weak transcription	HepG2	liver
23	chr3:140434200-140435200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:140434200-140435200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:140434200-140435200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:140434200-140439200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:140434400-140435600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:140435000-140444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:140435200-140435400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:140435200-140435400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:140435200-140435400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:140435200-140435400	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr3:140435200-140435600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:140435200-140435600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:140435200-140435600	Flanking Active TSS	GM12878-XiMat	blood
36	chr3:140435200-140435600	Enhancers	HSMMtube	muscle
37	chr3:140435200-140435800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:140435200-140436200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr3:140435200-140437200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:140435400-140435600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr3:140435400-140435800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:140435400-140436200	Enhancers	Esophagus	oesophagus
43	chr3:140435400-140436400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:140435400-140438400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:140435400-140440200	Enhancers	Adipose Nuclei	Adipose
46	chr3:140435600-140435800	Enhancers	Pancreas	Pancrea
47	chr3:140435600-140435800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr3:140435600-140436000	Enhancers	Ovary	ovary
49	chr3:140435600-140436200	Enhancers	GM12878-XiMat	blood
50	chr3:140435600-140438200	Weak transcription	HSMMtube	muscle

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