Variant report

Variant	nsv961419
Chromosome Location	chr2:74441222-74443074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74439596..74441446-chr2:74442816..74444714,2	MCF-7	breast:
2	chr2:74424253..74427211-chr2:74439827..74441466,3	MCF-7	breast:
3	chr2:74439596..74441446-chr2:74442816..74444714,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MTHFD2	hsa-miR-421	chr2:74442280-74442305

Variant related genes	Relation type
ENSG00000065911	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536254354	chr2:74441224-74441225	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554505192	chr2:74441229-74441230	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116108990	chr2:74441243-74441244	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544482603	chr2:74441271-74441272	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556127384	chr2:74441296-74441297	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369990126	chr2:74441310-74441311	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563102398	chr2:74441313-74441314	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373797950	chr2:74441355-74441356	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369775701	chr2:74441363-74441364	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376752504	chr2:74441373-74441374	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369935410	chr2:74441416-74441417	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545179486	chr2:74441424-74441425	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560300554	chr2:74441534-74441535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572137065	chr2:74441536-74441537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186683201	chr2:74441559-74441560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149200674	chr2:74441578-74441579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531945281	chr2:74441580-74441581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530536487	chr2:74441585-74441586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143060676	chr2:74441604-74441605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565384104	chr2:74441675-74441676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552427212	chr2:74441678-74441679	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191331336	chr2:74441692-74441693	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114602496	chr2:74441710-74441711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565849242	chr2:74441716-74441717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536328141	chr2:74441726-74441727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572219915	chr2:74441743-74441744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12196	chr2:74441799-74441800	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564308500	chr2:74441836-74441837	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537799806	chr2:74441873-74441874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74334588	chr2:74441903-74441904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577821260	chr2:74441942-74441943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538852206	chr2:74441952-74441953	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185039984	chr2:74441972-74441973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56319203	chr2:74441973-74441974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189417275	chr2:74442049-74442050	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192990350	chr2:74442078-74442079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560761650	chr2:74442102-74442103	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369730653	chr2:74442120-74442121	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185092301	chr2:74442134-74442135	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373605566	chr2:74442236-74442237	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548567594	chr2:74442340-74442341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189609046	chr2:74442353-74442354	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs15132	chr2:74442355-74442356	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10186488	chr2:74442402-74442403	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8001	chr2:74442407-74442408	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs532629743	chr2:74442414-74442415	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10186497	chr2:74442420-74442421	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs828853	chr2:74442431-74442432	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs181143438	chr2:74442503-74442504	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185160885	chr2:74442519-74442520	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74427400-74448400	Weak transcription	Brain Anterior Caudate	brain
2	chr2:74427400-74453000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:74427400-74453200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:74427400-74460200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:74427400-74462000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:74427400-74484400	Weak transcription	Fetal Lung	lung
7	chr2:74427600-74442600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:74427800-74494200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:74428000-74448600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:74428600-74449600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:74429000-74450600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:74429000-74453200	Weak transcription	Ovary	ovary
13	chr2:74429200-74452800	Weak transcription	Fetal Heart	heart
14	chr2:74432200-74441600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:74432600-74444600	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr2:74432800-74441800	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:74433600-74441800	Strong transcription	Fetal Stomach	stomach
18	chr2:74433600-74443000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:74433600-74444200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:74433600-74447200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:74433600-74447400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:74433600-74447600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:74433600-74447600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:74433600-74448400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:74433800-74447400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr2:74433800-74447400	Strong transcription	Dnd41	blood
27	chr2:74433800-74447600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:74433800-74447600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:74433800-74448400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:74433800-74449200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:74433800-74449200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:74433800-74449400	Strong transcription	NHEK	skin
33	chr2:74433800-74449600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:74433800-74449800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:74433800-74461800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:74434000-74444800	Strong transcription	Hela-S3	cervix
37	chr2:74434000-74453000	Weak transcription	Psoas Muscle	Psoas
38	chr2:74434200-74442000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:74434200-74447600	Strong transcription	HMEC	breast
40	chr2:74434200-74449400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:74434200-74449800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:74434400-74447600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:74434600-74447600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:74434600-74448800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:74434800-74446800	Strong transcription	HSMM	muscle
46	chr2:74434800-74447200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:74434800-74449000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:74434800-74449400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:74434800-74449600	Strong transcription	A549	lung
50	chr2:74435000-74441800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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