Variant report

Variant	esv3429424
Chromosome Location	chr2:172674856-172677154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172675309..172677546-chr2:172961280..172963314,2	K562	blood:
2	chr2:172673517..172675266-chr2:172684577..172687349,2	K562	blood:
3	chr2:172669767..172671872-chr2:172676820..172679924,3	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563651503	chr2:172674863-172674864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376336411	chr2:172674874-172674875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79723755	chr2:172674881-172674882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575869247	chr2:172674894-172674895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564624863	chr2:172674900-172674901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10174500	chr2:172674934-172674935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78744506	chr2:172674965-172674966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543270629	chr2:172674966-172674967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111822344	chr2:172674973-172674974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9636293	chr2:172675009-172675010	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs147749202	chr2:172675050-172675051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376726247	chr2:172675082-172675083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559060096	chr2:172675164-172675165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566149644	chr2:172675173-172675174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202090119	chr2:172675242-172675243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113851303	chr2:172675250-172675251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551114320	chr2:172675294-172675295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555945603	chr2:172675329-172675330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536628848	chr2:172675347-172675348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549290591	chr2:172675461-172675462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111655332	chr2:172675535-172675536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534855900	chr2:172675562-172675563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553164889	chr2:172675657-172675658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537809131	chr2:172675662-172675663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191832023	chr2:172675721-172675722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182813505	chr2:172675726-172675727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111208315	chr2:172675823-172675824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187531948	chr2:172675840-172675841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113211388	chr2:172675846-172675847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200118652	chr2:172675850-172675851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61563548	chr2:172675856-172675857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111967294	chr2:172675872-172675873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542556801	chr2:172675876-172675877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7592272	chr2:172675879-172675880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185566419	chr2:172675887-172675888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367880400	chr2:172675895-172675896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372081688	chr2:172675896-172675897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368387882	chr2:172675897-172675898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56377434	chr2:172675901-172675902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370846566	chr2:172675902-172675903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373556036	chr2:172675908-172675909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561290989	chr2:172675910-172675911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573188381	chr2:172675919-172675920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200927333	chr2:172675926-172675927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72333609	chr2:172675927-172675928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386391837	chr2:172675928-172675929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56154524	chr2:172675929-172675930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549322700	chr2:172675939-172675940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112596775	chr2:172675948-172675949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72309128	chr2:172675966-172675967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
4	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
6	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
11	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
14	chr2:172649000-172687400	Weak transcription	Gastric	stomach
15	chr2:172649200-172682000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:172650400-172680200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:172650400-172681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:172650400-172687600	Weak transcription	Lung	lung
20	chr2:172651800-172682000	Weak transcription	Fetal Thymus	thymus
21	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart
22	chr2:172655200-172681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:172655400-172687400	Weak transcription	A549	lung
24	chr2:172655600-172681800	Weak transcription	NHDF-Ad	bronchial
25	chr2:172655600-172687400	Weak transcription	NH-A	brain
26	chr2:172655800-172687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:172656000-172679600	Weak transcription	Osteobl	bone
28	chr2:172656200-172683800	Weak transcription	Thymus	Thymus
29	chr2:172656400-172682000	Weak transcription	Brain Anterior Caudate	brain
30	chr2:172656400-172684200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:172656400-172684400	Weak transcription	Aorta	Aorta
32	chr2:172657600-172687400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:172662600-172682000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:172663000-172682600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:172663600-172687400	Weak transcription	Fetal Brain Male	brain
36	chr2:172664200-172687400	Weak transcription	K562	blood
37	chr2:172664400-172679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:172664400-172687400	Weak transcription	HUVEC	blood vessel
39	chr2:172664600-172684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:172664600-172687400	Weak transcription	NHEK	skin
41	chr2:172664800-172680400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:172664800-172686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:172664800-172687600	Weak transcription	HMEC	breast
44	chr2:172665200-172681800	Weak transcription	HepG2	liver
45	chr2:172665200-172689600	Weak transcription	Small Intestine	intestine
46	chr2:172666200-172678800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:172666200-172689600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:172666600-172678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:172666600-172685000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:172666800-172681400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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