Variant report

Variant	nsv979243
Chromosome Location	chr2:96611183-96614369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:96613769-96613959	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:96613754-96613968	MCF10A-Er-Src	breast:	n/a	n/a
3	GABPA	chr2:96611849-96611941	HepG2	liver:	n/a	n/a
4	GABPA	chr2:96611800-96611943	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr2:96611379-96611567	HepG2	liver:	n/a	n/a
6	SP1	chr2:96610907-96611184	HepG2	liver:	n/a	n/a
7	STAT3	chr2:96613748-96614019	MCF10A-Er-Src	breast:	n/a	chr2:96613859-96613867
8	ZBTB33	chr2:96613806-96614062	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPAT2-1	chr2:96614278-96614344	XLOC_002209

Variant related genes	Relation type
ANKRD36C	TF binding region
B4GALT1	miRNA target sites

Extended variants
information (count: 179 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146452288	chr2:96611194-96611195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150473520	chr2:96611207-96611208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528531037	chr2:96611211-96611212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143141165	chr2:96611226-96611227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200671880	chr2:96611227-96611228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150786399	chr2:96611242-96611243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149685574	chr2:96611245-96611246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142661167	chr2:96611249-96611250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150954532	chr2:96611255-96611256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144317340	chr2:96611261-96611262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372246750	chr2:96611262-96611263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138217332	chr2:96611269-96611270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146037662	chr2:96611273-96611274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139115227	chr2:96611280-96611281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112706294	chr2:96611284-96611285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113209567	chr2:96611296-96611297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150344761	chr2:96611297-96611298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113558538	chr2:96611300-96611301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147170260	chr2:96611308-96611309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368989149	chr2:96611319-96611320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551474006	chr2:96611323-96611324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371658331	chr2:96611329-96611330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374774963	chr2:96611333-96611334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143986691	chr2:96611336-96611337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369144829	chr2:96611368-96611369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113769523	chr2:96611372-96611373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376190339	chr2:96611378-96611379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369917814	chr2:96611383-96611384	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs367903050	chr2:96611428-96611429	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs373423193	chr2:96611430-96611431	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377427396	chr2:96611436-96611437	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs371133320	chr2:96611439-96611440	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs367755631	chr2:96611478-96611479	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199548854	chr2:96611482-96611483	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs200812258	chr2:96611497-96611498	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201780761	chr2:96611505-96611506	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs537149741	chr2:96611512-96611513	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200107262	chr2:96611517-96611518	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200501305	chr2:96611522-96611523	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201680839	chr2:96611532-96611533	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs199952029	chr2:96611596-96611597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201167853	chr2:96611628-96611629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62154600	chr2:96611698-96611699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4625957	chr2:96611701-96611702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62154601	chr2:96611713-96611714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77068329	chr2:96611734-96611735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557007314	chr2:96611738-96611739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75108084	chr2:96611742-96611743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112979165	chr2:96611786-96611787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201966402	chr2:96611801-96611802	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Neuroblastoma	18574593	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

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
2	chr2:96556200-96645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:96556400-96628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:96556400-96645000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:96557400-96656800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:96574200-96629600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:96574600-96627600	Weak transcription	HSMM	muscle
8	chr2:96576800-96616200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:96577800-96647800	Weak transcription	NHDF-Ad	bronchial
10	chr2:96577800-96651000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:96577800-96656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:96578000-96645000	Weak transcription	NH-A	brain
13	chr2:96581400-96617000	Weak transcription	Pancreas	Pancrea
14	chr2:96582800-96656400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:96584000-96624600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:96584400-96621600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:96585200-96649000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:96585400-96616600	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:96585600-96615400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:96585600-96627400	Weak transcription	Left Ventricle	heart
21	chr2:96586000-96657200	Weak transcription	Ovary	ovary
22	chr2:96587800-96656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:96588200-96649000	Weak transcription	Fetal Intestine Large	intestine
24	chr2:96589000-96616000	Weak transcription	Fetal Lung	lung
25	chr2:96589000-96631200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:96589000-96645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:96591200-96616200	Weak transcription	Fetal Thymus	thymus
28	chr2:96593600-96616200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:96593600-96645000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:96594400-96617600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:96594600-96623800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:96600600-96657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:96600800-96617600	Weak transcription	Fetal Brain Male	brain
34	chr2:96600800-96621400	Weak transcription	A549	lung
35	chr2:96600800-96625600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:96600800-96645000	Weak transcription	Primary T cells from cord blood	blood
37	chr2:96602600-96616000	Weak transcription	Fetal Brain Female	brain
38	chr2:96604200-96616800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:96604600-96616000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:96605400-96644800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:96605600-96655000	Weak transcription	HUVEC	blood vessel
42	chr2:96606000-96616200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:96606000-96635000	Weak transcription	Fetal Intestine Small	intestine
44	chr2:96606400-96657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:96607400-96644600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:96607400-96657200	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:96608400-96635000	Weak transcription	Thymus	Thymus
48	chr2:96609000-96616200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:96609000-96625800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:96609200-96614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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