Variant report

Variant	nsv963620
Chromosome Location	chr2:73841121-73844121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73842508..73845608-chr2:73846002..73848469,3	K562	blood:
2	chr2:73839411..73842027-chr2:73845184..73847412,3	MCF-7	breast:
3	chr2:73834970..73837319-chr2:73844095..73845745,2	K562	blood:
4	chr2:73842404..73844324-chr2:73845193..73847014,2	MCF-7	breast:

Extended variants
information (count: 128 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535836468	chr2:73841185-73841186	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554568788	chr2:73841188-73841189	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569695035	chr2:73841231-73841232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537723484	chr2:73841236-73841237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115918744	chr2:73841257-73841258	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577509958	chr2:73841265-73841266	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374653697	chr2:73841273-73841274	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541646806	chr2:73841278-73841279	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34917055	chr2:73841302-73841303	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12464198	chr2:73841303-73841304	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553150525	chr2:73841414-73841415	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574899389	chr2:73841436-73841437	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143072131	chr2:73841437-73841438	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563685659	chr2:73841458-73841459	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530855548	chr2:73841475-73841476	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547134759	chr2:73841482-73841483	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543311437	chr2:73841495-73841496	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564841531	chr2:73841520-73841521	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532137799	chr2:73841535-73841536	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547582460	chr2:73841628-73841629	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559153364	chr2:73841629-73841630	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529772113	chr2:73841643-73841644	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548012586	chr2:73841651-73841652	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7601380	chr2:73841655-73841656	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7601381	chr2:73841656-73841657	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148258081	chr2:73841692-73841693	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186045445	chr2:73841699-73841700	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552856609	chr2:73841700-73841701	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34932428	chr2:73841719-73841720	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7601396	chr2:73841782-73841783	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571170193	chr2:73841785-73841786	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373820156	chr2:73841801-73841802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189279650	chr2:73841809-73841810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553510859	chr2:73841815-73841816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7562495	chr2:73841824-73841825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574969849	chr2:73841829-73841830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535935796	chr2:73841857-73841858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557081169	chr2:73841861-73841862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575194605	chr2:73841901-73841902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181954039	chr2:73841911-73841912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564806589	chr2:73841939-73841940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369845194	chr2:73841947-73841948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186572044	chr2:73841983-73841984	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7601610	chr2:73842005-73842006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191033106	chr2:73842016-73842017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559481735	chr2:73842018-73842019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529886463	chr2:73842022-73842023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6546859	chr2:73842055-73842056	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs563374350	chr2:73842056-73842057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550835626	chr2:73842077-73842078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
2	chr2:73823000-73844600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:73826000-73841200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:73826200-73841400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:73829400-73845400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:73830400-73843600	Weak transcription	Aorta	Aorta
7	chr2:73830600-73841200	Weak transcription	Liver	Liver
8	chr2:73830600-73843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:73830600-73847600	Weak transcription	Spleen	Spleen
10	chr2:73830600-73854800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:73831000-73842200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:73831200-73841200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:73836400-73844200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:73836400-73852600	Weak transcription	Ovary	ovary
15	chr2:73837400-73845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:73838000-73845200	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:73838200-73843200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:73838400-73841800	Weak transcription	Left Ventricle	heart
19	chr2:73838400-73842200	Weak transcription	Brain Anterior Caudate	brain
20	chr2:73838400-73844200	Weak transcription	Fetal Lung	lung
21	chr2:73838400-73844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:73838400-73852600	Weak transcription	Right Ventricle	heart
23	chr2:73838600-73842200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:73838600-73843800	Weak transcription	Lung	lung
25	chr2:73838600-73845200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:73838600-73845400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:73838600-73847400	Weak transcription	Brain Angular Gyrus	brain
28	chr2:73838600-73852600	Weak transcription	Pancreas	Pancrea
29	chr2:73838800-73842000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:73838800-73842200	Weak transcription	Fetal Intestine Small	intestine
31	chr2:73838800-73843400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:73838800-73845800	Weak transcription	Fetal Stomach	stomach
33	chr2:73838800-73846600	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:73838800-73849600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:73839000-73842200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:73839200-73841800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:73839200-73842400	Weak transcription	Fetal Brain Female	brain
38	chr2:73839200-73844000	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr2:73839400-73841200	Weak transcription	Primary T cells from cord blood	blood
40	chr2:73839600-73845600	Weak transcription	Brain Substantia Nigra	brain
41	chr2:73839600-73846400	Weak transcription	Thymus	Thymus
42	chr2:73840400-73842800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr2:73841000-73841600	Enhancers	GM12878-XiMat	blood
44	chr2:73841200-73841400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:73841200-73841600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:73841200-73842600	Strong transcription	Primary T cells from cord blood	blood
47	chr2:73841400-73841800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:73841600-73843400	Weak transcription	GM12878-XiMat	blood
49	chr2:73841800-73842000	Enhancers	Left Ventricle	heart
50	chr2:73841800-73844000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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