Variant report

Variant	esv3372848
Chromosome Location	chr3:133183209-133183728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133166486..133169051-chr3:133181517..133184490,2	MCF-7	breast:
2	chr3:133182317..133184120-chr3:133296724..133299109,2	MCF-7	breast:
3	chr3:133182278..133184590-chr3:133188280..133190685,2	MCF-7	breast:
4	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
5	chr3:133180327..133181853-chr3:133181928..133184881,2	MCF-7	breast:
6	chr3:133182951..133184510-chr3:133300267..133301904,2	K562	blood:
7	chr3:133182617..133183639-chr3:133297124..133298374,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091527	chromatin interactions
ENSG00000170819	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529961873	chr3:133183261-133183262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567578789	chr3:133183280-133183281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs140291890	chr3:133183361-133183362	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529834302	chr3:133183367-133183368	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567651972	chr3:133183403-133183404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7612063	chr3:133183467-133183468	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs80316767	chr3:133183499-133183500	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs75393690	chr3:133183505-133183506	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34591383	chr3:133183506-133183507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550285370	chr3:133183549-133183550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375753756	chr3:133183600-133183601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187200351	chr3:133183602-133183603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs538758042	chr3:133183610-133183611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559078077	chr3:133183651-133183652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566157571	chr3:133183660-133183661	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs199779023	chr3:133183686-133183687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs149280983	chr3:133183713-133183714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133161000-133191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:133177200-133185800	Enhancers	Fetal Thymus	thymus
3	chr3:133178600-133185600	Weak transcription	Left Ventricle	heart
4	chr3:133178800-133186800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:133179000-133187000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:133179400-133185600	Enhancers	GM12878-XiMat	blood
7	chr3:133179600-133187400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:133180000-133183400	Weak transcription	Stomach Mucosa	stomach
9	chr3:133180000-133185600	Weak transcription	Right Atrium	heart
10	chr3:133180000-133187000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:133180000-133191000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:133180400-133185200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:133180400-133185400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:133180400-133185600	Weak transcription	Esophagus	oesophagus
15	chr3:133180600-133183400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:133180600-133185200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:133180600-133185600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:133180600-133185800	Weak transcription	HSMMtube	muscle
19	chr3:133181200-133183600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:133181400-133184400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:133181400-133191400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:133182200-133187200	Enhancers	Primary B cells from cord blood	blood
23	chr3:133182200-133188800	Enhancers	Primary B cells from peripheral blood	blood
24	chr3:133182400-133185800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:133182600-133183400	Weak transcription	Fetal Kidney	kidney
26	chr3:133182600-133185400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:133182600-133185600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:133182600-133185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:133182600-133185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:133182600-133185600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr3:133182600-133192600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:133182800-133184400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:133182800-133185200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:133183000-133184200	Weak transcription	Spleen	Spleen
35	chr3:133183000-133184400	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:133183000-133184800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr3:133183000-133185600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:133183000-133185600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:133183000-133185600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:133183000-133185600	Weak transcription	Colonic Mucosa	Colon
41	chr3:133183000-133185600	Weak transcription	Placenta	Placenta
42	chr3:133183000-133185600	Weak transcription	NHEK	skin
43	chr3:133183000-133188000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:133183000-133192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:133183200-133183600	Weak transcription	Small Intestine	intestine
46	chr3:133183200-133184200	Weak transcription	Thymus	Thymus
47	chr3:133183200-133184400	Weak transcription	Primary T cells from cord blood	blood
48	chr3:133183400-133184400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:133183600-133183800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:133183600-133183800	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links