Variant report

Variant	esv3408508
Chromosome Location	chr2:95658525-95662923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95661631..95663238-chr2:95667762..95669950,2	K562	blood:
2	chr2:95656114..95658110-chr2:95658278..95660478,2	MCF-7	breast:
3	chr2:95660407..95662839-chr2:95663627..95666532,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAL-2	chr2:95659951-95660107	NONHSAT072455

Variant related genes	Relation type
ENSG00000235186	chromatin interactions
ENSG00000242822	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs531746908	chr2:95658549-95658550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113169510	chr2:95658598-95658599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561988197	chr2:95658640-95658641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527966121	chr2:95658683-95658684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548098211	chr2:95658702-95658703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566316732	chr2:95658718-95658719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184542642	chr2:95658725-95658726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552262719	chr2:95658726-95658727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568969365	chr2:95658747-95658748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537980143	chr2:95658762-95658763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189253632	chr2:95658856-95658857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568271013	chr2:95658866-95658867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79273916	chr2:95658868-95658869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138773162	chr2:95658869-95658870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532858488	chr2:95658936-95658937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577119954	chr2:95658954-95658955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546183887	chr2:95658955-95658956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556187169	chr2:95658957-95658958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181229210	chr2:95658958-95658959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541957196	chr2:95658967-95658968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375569499	chr2:95658983-95658984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551433851	chr2:95658996-95658997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113374159	chr2:95659006-95659007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185834537	chr2:95659009-95659010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190683885	chr2:95659032-95659033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116275577	chr2:95659039-95659040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180982364	chr2:95659093-95659094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552191331	chr2:95659108-95659109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568905756	chr2:95659118-95659119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368282777	chr2:95659123-95659124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531412802	chr2:95659192-95659193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187036874	chr2:95659193-95659194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4854241	chr2:95659249-95659250	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs561196026	chr2:95659255-95659256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373853541	chr2:95659264-95659265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568126080	chr2:95659277-95659278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs67014278	chr2:95659291-95659292	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs553734540	chr2:95659292-95659293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570724004	chr2:95659299-95659300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13001580	chr2:95659325-95659326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116776959	chr2:95659340-95659341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567173300	chr2:95659404-95659405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35059184	chr2:95659445-95659446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141850159	chr2:95659448-95659449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576059010	chr2:95659451-95659452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541892197	chr2:95659454-95659455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534934829	chr2:95659463-95659464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546452669	chr2:95659465-95659466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555845892	chr2:95659486-95659487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146315358	chr2:95659487-95659488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95651200-95660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:95651600-95660600	Weak transcription	Esophagus	oesophagus
3	chr2:95659800-95660400	Weak transcription	Right Atrium	heart
4	chr2:95660200-95660400	Bivalent Enhancer	Fetal Stomach	stomach
5	chr2:95660400-95660600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:95660400-95660600	Bivalent Enhancer	Fetal Lung	lung
7	chr2:95660400-95660800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr2:95660400-95661000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:95660400-95663400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:95660600-95660800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:95660600-95660800	Enhancers	Fetal Kidney	kidney
12	chr2:95660600-95660800	Enhancers	Gastric	stomach
13	chr2:95660600-95661000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:95660600-95661000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:95660600-95661000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:95660600-95661000	Bivalent Enhancer	Aorta	Aorta
17	chr2:95660600-95661000	Transcr. at gene 5' and 3'	Esophagus	oesophagus
18	chr2:95660600-95661000	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:95660600-95661200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:95660600-95661200	ZNF genes & repeats	Right Atrium	heart
21	chr2:95660600-95663200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:95660800-95661000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:95660800-95663800	Weak transcription	Gastric	stomach
24	chr2:95661000-95661200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr2:95661000-95661200	Genic enhancers	Esophagus	oesophagus
26	chr2:95661000-95662200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:95661000-95663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:95661000-95663400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:95661000-95664400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:95661200-95661400	Strong transcription	Right Atrium	heart
31	chr2:95661200-95663200	Weak transcription	Esophagus	oesophagus
32	chr2:95661400-95664000	Weak transcription	Right Atrium	heart
33	chr2:95661800-95662200	Enhancers	Fetal Kidney	kidney
34	chr2:95661800-95662800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr2:95662200-95662600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:95662200-95662600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:95662200-95662800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr2:95662200-95663000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr2:95662200-95663400	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr2:95662400-95662600	Enhancers	Fetal Heart	heart
41	chr2:95662600-95663600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:95662800-95663400	Bivalent Enhancer	Fetal Kidney	kidney

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