Variant report

Variant	nsv10013
Chromosome Location	chr2:73838181-73841175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73839411..73842027-chr2:73845184..73847412,3	MCF-7	breast:
2	chr2:73837883..73840443-chr2:74211046..74212867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192018186	chr2:73838206-73838207	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573069912	chr2:73838243-73838244	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140622033	chr2:73838258-73838259	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555397625	chr2:73838261-73838262	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374101510	chr2:73838270-73838271	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117221166	chr2:73838277-73838278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544166792	chr2:73838390-73838391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183289483	chr2:73838393-73838394	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187530188	chr2:73838420-73838421	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545285685	chr2:73838490-73838491	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560416965	chr2:73838518-73838519	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527847913	chr2:73838565-73838566	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72913464	chr2:73838572-73838573	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6546858	chr2:73838613-73838614	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs531692106	chr2:73838625-73838626	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370967337	chr2:73838696-73838697	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114981706	chr2:73838713-73838714	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571661579	chr2:73838752-73838753	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs137962971	chr2:73838757-73838758	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs386647344	chr2:73838758-73838759	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374149956	chr2:73838759-73838760	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10547252	chr2:73838761-73838762	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551653100	chr2:73838780-73838781	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550915009	chr2:73838795-73838796	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11388758	chr2:73838802-73838803	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs386390468	chr2:73838803-73838804	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11406153	chr2:73838805-73838806	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79055116	chr2:73838844-73838845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114440232	chr2:73838941-73838942	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555292280	chr2:73838948-73838949	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573807109	chr2:73838990-73838991	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537528514	chr2:73839019-73839020	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555879206	chr2:73839067-73839068	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs151098800	chr2:73839069-73839070	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35284464	chr2:73839074-73839075	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190489707	chr2:73839080-73839081	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141038420	chr2:73839090-73839091	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536639388	chr2:73839190-73839191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560381854	chr2:73839196-73839197	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572673886	chr2:73839198-73839199	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543336409	chr2:73839256-73839257	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543283061	chr2:73839271-73839272	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150283176	chr2:73839274-73839275	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183017744	chr2:73839303-73839304	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12466032	chr2:73839309-73839310	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564849623	chr2:73839344-73839345	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs59703866	chr2:73839405-73839406	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532504998	chr2:73839510-73839511	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547826209	chr2:73839528-73839529	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555049037	chr2:73839542-73839543	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
2	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
3	chr2:73822000-73838800	Weak transcription	Fetal Heart	heart
4	chr2:73822600-73840800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:73823000-73844600	Weak transcription	Primary B cells from cord blood	blood
6	chr2:73826000-73841200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:73826200-73841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:73826600-73839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:73826800-73838800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:73827000-73840600	Weak transcription	NHLF	lung
11	chr2:73827600-73838200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:73827600-73839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:73827800-73840400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:73829000-73839000	Weak transcription	NHDF-Ad	bronchial
15	chr2:73829000-73839400	Weak transcription	Placenta	Placenta
16	chr2:73829200-73838600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:73829200-73840000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:73829400-73845400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:73829600-73840200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:73829800-73839600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:73829800-73840000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:73829800-73840000	Weak transcription	Gastric	stomach
23	chr2:73829800-73840400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:73830000-73840800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:73830400-73839200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:73830400-73843600	Weak transcription	Aorta	Aorta
27	chr2:73830600-73838800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:73830600-73839000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:73830600-73839000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:73830600-73839600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:73830600-73840000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:73830600-73841200	Weak transcription	Liver	Liver
33	chr2:73830600-73843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:73830600-73847600	Weak transcription	Spleen	Spleen
35	chr2:73830600-73854800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:73830800-73839200	Weak transcription	Osteobl	bone
37	chr2:73830800-73840800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:73831000-73842200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:73831200-73839600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:73831200-73841200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:73833800-73839200	Strong transcription	Fetal Brain Female	brain
42	chr2:73835200-73838600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:73835400-73838400	Strong transcription	Left Ventricle	heart
44	chr2:73835400-73838400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:73835400-73838800	Strong transcription	Fetal Intestine Small	intestine
46	chr2:73835400-73839000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:73835400-73839200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:73835600-73838400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:73835600-73838400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:73835600-73838800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links