Variant report

Variant	esv3352726
Chromosome Location	chr3:88208142-88208346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:88207610..88209818-chr3:88212134..88214341,2	MCF-7	breast:
2	chr3:88197769..88200999-chr3:88203234..88208947,7	MCF-7	breast:
3	chr3:88197032..88201570-chr3:88203720..88209497,8	K562	blood:

Variant related genes	Relation type
ENSG00000179021	chromatin interactions
ENSG00000163320	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78666975	chr3:88208159-88208160	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188618763	chr3:88208160-88208161	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7428556	chr3:88208174-88208175	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6551281	chr3:88208201-88208202	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs144789758	chr3:88208217-88208218	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138728011	chr3:88208260-88208261	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568967301	chr3:88208324-88208325	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88199800-88216800	Weak transcription	Esophagus	oesophagus
2	chr3:88200800-88209400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:88200800-88214600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:88200800-88218000	Weak transcription	Pancreas	Pancrea
5	chr3:88200800-88221600	Weak transcription	Psoas Muscle	Psoas
6	chr3:88200800-88224400	Weak transcription	Aorta	Aorta
7	chr3:88201200-88209600	Weak transcription	Stomach Mucosa	stomach
8	chr3:88201400-88212200	Weak transcription	Colonic Mucosa	Colon
9	chr3:88202000-88208200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:88202000-88208400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:88202000-88210200	Strong transcription	Placenta	Placenta
12	chr3:88202000-88211400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:88202200-88208200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:88202200-88208200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:88202200-88208200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:88202200-88208200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:88202200-88209200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:88202200-88211000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:88202200-88211800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:88202200-88212000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:88202400-88208200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr3:88202400-88208200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:88202400-88208200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:88202400-88208200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr3:88202400-88208200	Strong transcription	Fetal Intestine Large	intestine
26	chr3:88202400-88208200	Strong transcription	Osteobl	bone
27	chr3:88202400-88208400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:88202400-88208600	Strong transcription	Fetal Thymus	thymus
29	chr3:88202400-88208800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:88202400-88210000	Strong transcription	Liver	Liver
31	chr3:88202600-88208400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:88202600-88209000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:88202600-88211000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:88202600-88211200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:88202800-88208400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:88202800-88208600	Strong transcription	Adipose Nuclei	Adipose
37	chr3:88202800-88212600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:88203000-88208400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:88203000-88212200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr3:88203000-88214200	Weak transcription	Small Intestine	intestine
41	chr3:88203400-88208200	Strong transcription	A549	lung
42	chr3:88203400-88208400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:88203600-88208200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:88203600-88208600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr3:88203800-88208200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr3:88203800-88208400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr3:88204200-88208600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:88204200-88208600	Strong transcription	NHLF	lung
49	chr3:88204200-88212400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr3:88204400-88217400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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