Variant report

Variant	esv3384331
Chromosome Location	chr2:172721856-172725054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172724899..172727363-chr2:172737515..172740249,2	K562	blood:
2	chr2:172701236..172703599-chr2:172719950..172722171,2	K562	blood:
3	chr2:172720314..172722919-chr2:172744324..172746947,2	K562	blood:
4	chr2:172722204..172724793-chr2:172734963..172736476,2	K562	blood:
5	chr2:172712150..172715433-chr2:172717906..172722100,4	K562	blood:

Variant related genes	Relation type
ENSG00000252779	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539410686	chr2:172721954-172721955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183914684	chr2:172721978-172721979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374359067	chr2:172721999-172722000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6707769	chr2:172722008-172722009	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561964578	chr2:172722067-172722068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148910727	chr2:172722154-172722155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550572727	chr2:172722207-172722208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201456158	chr2:172722362-172722363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541525573	chr2:172722363-172722364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559544228	chr2:172722365-172722366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533179757	chr2:172722375-172722376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551330177	chr2:172722395-172722396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563329935	chr2:172722426-172722427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531154065	chr2:172722482-172722483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62182393	chr2:172722515-172722516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372197438	chr2:172722536-172722537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549254709	chr2:172722564-172722565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567855026	chr2:172722607-172722608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62182394	chr2:172722676-172722677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528629438	chr2:172722769-172722770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547489615	chr2:172723070-172723071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201291998	chr2:172723136-172723137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565603497	chr2:172723174-172723175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539524845	chr2:172723178-172723179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557814364	chr2:172723186-172723187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569666323	chr2:172723223-172723224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537383601	chr2:172723242-172723243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199715299	chr2:172723301-172723302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564339762	chr2:172723317-172723318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555333387	chr2:172723359-172723360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573784486	chr2:172723386-172723387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546903843	chr2:172723420-172723421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188718229	chr2:172723427-172723428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577752074	chr2:172723443-172723444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371677623	chr2:172723447-172723448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193282261	chr2:172723476-172723477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548658772	chr2:172723495-172723496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369400327	chr2:172723530-172723531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545198832	chr2:172723547-172723548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530770736	chr2:172723549-172723550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543307685	chr2:172723601-172723602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373571048	chr2:172723762-172723763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375644562	chr2:172723767-172723768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561392862	chr2:172723813-172723814	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528699319	chr2:172723820-172723821	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs546912302	chr2:172723822-172723823	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113943367	chr2:172723824-172723825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs11695029	chr2:172723828-172723829	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551491782	chr2:172723874-172723875	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184308809	chr2:172723890-172723891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
3	chr2:172692200-172733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:172693200-172728000	Weak transcription	Colonic Mucosa	Colon
5	chr2:172693400-172734800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:172693600-172724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:172693600-172734400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:172693600-172734600	Weak transcription	HSMM	muscle
9	chr2:172693800-172725800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:172693800-172727000	Weak transcription	Fetal Kidney	kidney
11	chr2:172693800-172732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:172693800-172734600	Weak transcription	Right Ventricle	heart
13	chr2:172694000-172724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:172694000-172724200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:172694000-172732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:172694000-172734600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:172694000-172734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:172698600-172724200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:172698600-172734600	Weak transcription	Adipose Nuclei	Adipose
20	chr2:172699000-172734600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:172699600-172731400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:172700200-172724200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:172700200-172724400	Weak transcription	Fetal Stomach	stomach
24	chr2:172700400-172724200	Weak transcription	Fetal Brain Female	brain
25	chr2:172704200-172724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:172704800-172731000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:172705200-172731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:172705400-172735200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:172709400-172734400	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:172709800-172731400	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:172710000-172724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:172710400-172723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:172710600-172724200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:172710800-172747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:172711200-172724200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:172711400-172724200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:172711400-172731000	Weak transcription	GM12878-XiMat	blood
40	chr2:172711600-172724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:172711600-172740000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:172712000-172727400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:172712000-172731200	Weak transcription	Primary B cells from cord blood	blood
44	chr2:172712200-172731000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:172712200-172749200	Weak transcription	Hela-S3	cervix
46	chr2:172712400-172724200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:172712400-172724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:172712400-172731400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:172712400-172738200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:172712600-172723800	Weak transcription	Primary monocytes fromperipheralblood	blood

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