Variant report

Variant	esv2762924
Chromosome Location	chr2:151219089-151233089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151217094..151219052-chr2:151222062..151224193,2	K562	blood:
2	chr2:151226284..151229964-chr2:151230114..151233634,4	K562	blood:
3	chr2:151224309..151226890-chr2:151241115..151243748,2	MCF-7	breast:
4	chr2:151231581..151233321-chr2:151341388..151343560,2	MCF-7	breast:
5	chr2:151220414..151221151-chr6:4135446..4136036,2	MCF-7	breast:
6	chr2:151226284..151229964-chr2:151230114..151233634,4	K562	blood:

Variant related genes	Relation type
ENSG00000115963	chromatin interactions
ENSG00000254821	chromatin interactions
ENSG00000198721	chromatin interactions

Extended variants
information (count: 416 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10930090	chr2:151219089-151219090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570717438	chr2:151219133-151219134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532032498	chr2:151219152-151219153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551851846	chr2:151219169-151219170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568650939	chr2:151219195-151219196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13002974	chr2:151219197-151219198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554572860	chr2:151219200-151219201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568230551	chr2:151219262-151219263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114812131	chr2:151219263-151219264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61406148	chr2:151219274-151219275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577111603	chr2:151219278-151219279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7586993	chr2:151219315-151219316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116643455	chr2:151219316-151219317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113997147	chr2:151219319-151219320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368096401	chr2:151219375-151219376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139384567	chr2:151219383-151219384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185226994	chr2:151220425-151220426	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373216988	chr2:151220448-151220449	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535336481	chr2:151220491-151220492	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555820703	chr2:151220519-151220520	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576575902	chr2:151220579-151220580	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543205449	chr2:151220597-151220598	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189696452	chr2:151220643-151220644	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557747251	chr2:151220685-151220686	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145470174	chr2:151220702-151220703	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112356883	chr2:151220769-151220770	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs543710559	chr2:151220783-151220784	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182228332	chr2:151220828-151220829	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs574171656	chr2:151220851-151220852	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs137994372	chr2:151220866-151220867	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561802151	chr2:151220944-151220945	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs16828101	chr2:151220962-151220963	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543839410	chr2:151220964-151220965	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs78139460	chr2:151220991-151220992	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs187298501	chr2:151221026-151221027	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191848828	chr2:151221049-151221050	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113626014	chr2:151221051-151221052	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs577158060	chr2:151221067-151221068	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs72993813	chr2:151221107-151221108	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10180225	chr2:151223233-151223234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373190903	chr2:151223237-151223238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564749418	chr2:151223273-151223274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16828109	chr2:151223335-151223336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78357585	chr2:151223337-151223338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561470351	chr2:151223340-151223341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191866081	chr2:151223357-151223358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370357243	chr2:151223398-151223399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34862789	chr2:151223422-151223423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183896784	chr2:151223440-151223441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34975123	chr2:151223448-151223449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
lymphocytic leukemia	21291569	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

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151218600-151219400	Enhancers	HUVEC	blood vessel
2	chr2:151223200-151226600	Weak transcription	Small Intestine	intestine
3	chr2:151225000-151229400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:151226400-151227200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr2:151226600-151227800	Enhancers	Small Intestine	intestine
6	chr2:151226600-151228600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:151226600-151229200	Enhancers	Fetal Intestine Small	intestine
8	chr2:151226800-151229000	Enhancers	Liver	Liver
9	chr2:151226800-151229400	Enhancers	Fetal Intestine Large	intestine
10	chr2:151227000-151228400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:151227000-151228600	Enhancers	Hela-S3	cervix
12	chr2:151227200-151228800	Enhancers	Stomach Mucosa	stomach
13	chr2:151227600-151228000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:151227600-151228000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:151227600-151228000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:151227600-151228800	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:151227800-151228200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:151227800-151228200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:151227800-151228200	Enhancers	Adipose Nuclei	Adipose
20	chr2:151227800-151228400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:151227800-151233200	Weak transcription	Small Intestine	intestine
22	chr2:151228000-151228800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:151228200-151233000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:151228600-151233000	Weak transcription	Hela-S3	cervix
25	chr2:151229400-151233000	Weak transcription	Fetal Intestine Large	intestine
26	chr2:151230000-151230400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr2:151230400-151232800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:151230600-151234600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:151231000-151231600	Enhancers	Brain Germinal Matrix	brain
30	chr2:151231600-151232000	Weak transcription	Brain Germinal Matrix	brain
31	chr2:151231800-151232000	Enhancers	Psoas Muscle	Psoas
32	chr2:151231800-151232400	Enhancers	Fetal Heart	heart
33	chr2:151232000-151232200	Enhancers	Brain Germinal Matrix	brain
34	chr2:151232000-151233000	Weak transcription	Psoas Muscle	Psoas
35	chr2:151232200-151233400	Weak transcription	Brain Germinal Matrix	brain
36	chr2:151232200-151234400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:151232400-151235800	Weak transcription	Fetal Heart	heart
38	chr2:151232800-151233200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:151232800-151233400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:151232800-151233800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:151233000-151233400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:151233000-151233400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:151233000-151233400	Enhancers	Fetal Intestine Large	intestine
44	chr2:151233000-151233400	Enhancers	Fetal Muscle Leg	muscle
45	chr2:151233000-151233400	Enhancers	Psoas Muscle	Psoas
46	chr2:151233000-151233400	Enhancers	HSMMtube	muscle
47	chr2:151233000-151233600	Enhancers	Adipose Nuclei	Adipose
48	chr2:151233000-151233600	Enhancers	Liver	Liver
49	chr2:151233000-151233800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:151233000-151234000	Enhancers	Hela-S3	cervix

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