Variant report

Variant	esv3422886
Chromosome Location	chr2:171857506-171861704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs545077167	chr2:171857542-171857543	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113839372	chr2:171857547-171857548	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113563011	chr2:171857549-171857550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142825264	chr2:171857550-171857551	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185395972	chr2:171857565-171857566	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575665902	chr2:171857568-171857569	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190204621	chr2:171857593-171857594	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143235801	chr2:171857612-171857613	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116218616	chr2:171857619-171857620	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540423366	chr2:171857634-171857635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565440758	chr2:171857694-171857695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10173931	chr2:171857695-171857696	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536616316	chr2:171857698-171857699	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182774954	chr2:171857720-171857721	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373287802	chr2:171857751-171857752	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146614098	chr2:171857769-171857770	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566656057	chr2:171857781-171857782	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530405318	chr2:171857819-171857820	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185912861	chr2:171857822-171857823	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191808457	chr2:171857853-171857854	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555412792	chr2:171857857-171857858	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567363127	chr2:171857940-171857941	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534864547	chr2:171857972-171857973	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553157098	chr2:171857976-171857977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571462411	chr2:171858031-171858032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538892365	chr2:171858070-171858071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376537500	chr2:171858098-171858099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184047881	chr2:171858100-171858101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575628077	chr2:171858104-171858105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75934673	chr2:171858125-171858126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35309189	chr2:171858130-171858131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188943468	chr2:171858155-171858156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141019938	chr2:171858187-171858188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540433564	chr2:171858189-171858190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368203183	chr2:171858190-171858191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2676149	chr2:171858213-171858214	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532713936	chr2:171858229-171858230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149854421	chr2:171858257-171858258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529619597	chr2:171858282-171858283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376558151	chr2:171858301-171858302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116833436	chr2:171858303-171858304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575475633	chr2:171858304-171858305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537689490	chr2:171858305-171858306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192667357	chr2:171858317-171858318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145887075	chr2:171858346-171858347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546495363	chr2:171858416-171858417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149006510	chr2:171858424-171858425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567487193	chr2:171858427-171858428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538438300	chr2:171858472-171858473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147044000	chr2:171858473-171858474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:171838600-171862000	Weak transcription	Ovary	ovary
6	chr2:171838800-171861800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:171840800-171861800	Weak transcription	Small Intestine	intestine
8	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:171841000-171862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:171841000-171865400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:171841600-171859000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
15	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:171842400-171857600	Weak transcription	Fetal Brain Female	brain
17	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:171843200-171863200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:171843200-171871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:171843800-171863400	Strong transcription	Fetal Thymus	thymus
22	chr2:171844600-171868800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:171844800-171863400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:171844800-171873000	Strong transcription	GM12878-XiMat	blood
25	chr2:171845200-171861000	Weak transcription	Hela-S3	cervix
26	chr2:171845400-171858800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
28	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
29	chr2:171847200-171871600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:171847400-171864200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:171847400-171871600	Strong transcription	Dnd41	blood
32	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
33	chr2:171847600-171871800	Strong transcription	Placenta	Placenta
34	chr2:171847600-171872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:171847600-171872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:171847800-171863400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
38	chr2:171848000-171859200	Weak transcription	A549	lung
39	chr2:171848000-171866400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:171848200-171860200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:171848200-171869000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:171848600-171857800	Weak transcription	Colonic Mucosa	Colon
43	chr2:171848800-171862000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:171848800-171873000	Strong transcription	HepG2	liver
45	chr2:171849000-171865800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:171849200-171857800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:171850400-171860800	Weak transcription	HMEC	breast
48	chr2:171850400-171865400	Weak transcription	Fetal Heart	heart
49	chr2:171850400-171892000	Weak transcription	Brain Anterior Caudate	brain
50	chr2:171850600-171862000	Weak transcription	Brain Cingulate Gyrus	brain

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