Variant report

Variant	esv2762288
Chromosome Location	chr2:151970391-151983277
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	chr2:151966049..151968023-chr2:151983084..151984640,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM43-1	chr2:151974469-151974888	ENSG00000236885

Extended variants
information (count: 304 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4325752	chr2:151970391-151970392	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113064209	chr2:151970405-151970406	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181874600	chr2:151970479-151970480	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370559411	chr2:151970494-151970495	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570294079	chr2:151970496-151970497	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551993810	chr2:151970531-151970532	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571520057	chr2:151970577-151970578	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530967067	chr2:151970580-151970581	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549485250	chr2:151970633-151970634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569374197	chr2:151970640-151970641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535466166	chr2:151970653-151970654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555039150	chr2:151970672-151970673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4297880	chr2:151970688-151970689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184697934	chr2:151970712-151970713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559164154	chr2:151970733-151970734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142282227	chr2:151970793-151970794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558043630	chr2:151970794-151970795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4297881	chr2:151970800-151970801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146312911	chr2:151970812-151970813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189400647	chr2:151970828-151970829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139960383	chr2:151970991-151970992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76122898	chr2:151971070-151971071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577686005	chr2:151971098-151971099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528447173	chr2:151971173-151971174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545301914	chr2:151971197-151971198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565211671	chr2:151971203-151971204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531022906	chr2:151971231-151971232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10183699	chr2:151971243-151971244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569438502	chr2:151971248-151971249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528975305	chr2:151971289-151971290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114061984	chr2:151971290-151971291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565548453	chr2:151971319-151971320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386651658	chr2:151971411-151971412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78696278	chr2:151971412-151971413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146722640	chr2:151971506-151971507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530684443	chr2:151971521-151971522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537271096	chr2:151971551-151971552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150062898	chr2:151971558-151971559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557191719	chr2:151971563-151971564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373260816	chr2:151971597-151971598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574120982	chr2:151971639-151971640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531330171	chr2:151971660-151971661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182003044	chr2:151971761-151971762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7584360	chr2:151971783-151971784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573180600	chr2:151971813-151971814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544965486	chr2:151971888-151971889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77367966	chr2:151971894-151971895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185201793	chr2:151971898-151971899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544448779	chr2:151971910-151971911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561313891	chr2:151971956-151971957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151968800-151974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:151970000-151970600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr2:151970200-151973800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:151970400-151971000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:151971000-151971800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:151972400-151972800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:151973800-151974200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:151976200-151976800	Enhancers	Brain Germinal Matrix	brain
9	chr2:151976200-151977200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:151976800-151979000	Weak transcription	Brain Germinal Matrix	brain
11	chr2:151979000-151980400	Enhancers	Brain Germinal Matrix	brain
12	chr2:151979400-151979800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:151979600-151980400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:151979800-151980200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:151980200-151980400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:151980800-151981000	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links