Variant report

Variant	nsv819311
Chromosome Location	chr2:97039430-97039715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96999598..97002888-chr2:97039436..97041804,3	K562	blood:
2	chr2:97031285..97033071-chr2:97037029..97039900,2	K562	blood:
3	chr2:96999897..97002755-chr2:97039436..97042284,2	K562	blood:
4	chr2:96970065..96972935-chr2:97039577..97041922,2	K562	blood:
5	chr2:97032551..97034623-chr2:97038174..97040150,2	MCF-7	breast:
6	chr2:97037773..97040106-chr2:97040749..97042480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144028	chromatin interactions
ENSG00000121152	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542305511	chr2:97039435-97039436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562171048	chr2:97039441-97039442	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35691570	chr2:97039456-97039457	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527636070	chr2:97039493-97039494	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199667552	chr2:97039558-97039559	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541111907	chr2:97039594-97039595	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34465246	chr2:97039633-97039634	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544375884	chr2:97039641-97039642	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564790059	chr2:97039644-97039645	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs386648378	chr2:97039665-97039666	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs772160	chr2:97039666-97039667	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs150480742	chr2:97039705-97039706	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21990379	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97002800-97040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97004000-97040400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:97004200-97040400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:97006200-97041000	Strong transcription	Dnd41	blood
5	chr2:97006600-97040200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:97006600-97040400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:97006800-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:97006800-97040600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:97006800-97040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:97007000-97040600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:97007200-97040000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:97007200-97040200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:97007200-97040400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:97007200-97041600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:97007400-97040200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:97007400-97040400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:97007400-97040600	Strong transcription	Thymus	Thymus
18	chr2:97012600-97040000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:97013800-97040000	Weak transcription	Esophagus	oesophagus
20	chr2:97014800-97040600	Strong transcription	A549	lung
21	chr2:97015000-97039600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:97017000-97040000	Weak transcription	Fetal Kidney	kidney
23	chr2:97019200-97040600	Strong transcription	Fetal Thymus	thymus
24	chr2:97019200-97042000	Weak transcription	Spleen	Spleen
25	chr2:97020000-97041400	Weak transcription	HSMM	muscle
26	chr2:97024400-97040000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:97024600-97040000	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr2:97024800-97039800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:97024800-97039800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:97024800-97040000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr2:97025600-97039600	Weak transcription	Pancreas	Pancrea
32	chr2:97028000-97040000	Strong transcription	HepG2	liver
33	chr2:97029000-97041000	Weak transcription	Primary T cells from cord blood	blood
34	chr2:97030000-97040000	Strong transcription	NHEK	skin
35	chr2:97032000-97039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:97032200-97041800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:97033800-97039600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:97034400-97040600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:97034400-97040600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:97035400-97039600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:97035600-97039600	Weak transcription	Aorta	Aorta
42	chr2:97035600-97040000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:97035600-97040000	Weak transcription	NH-A	brain
44	chr2:97036000-97039600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:97036000-97039600	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:97036000-97039600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:97036000-97039800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:97036000-97039800	Weak transcription	Brain Substantia Nigra	brain
49	chr2:97036200-97039600	Weak transcription	NHDF-Ad	bronchial
50	chr2:97036200-97044600	Weak transcription	Gastric	stomach

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