Variant report

Variant	esv3420445
Chromosome Location	chr2:189444807-189445805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189439657..189442123-chr2:189444360..189445883,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150231041	chr2:189444817-189444818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373927962	chr2:189444818-189444819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534654032	chr2:189444861-189444862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553231029	chr2:189444883-189444884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574600722	chr2:189444950-189444951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58571834	chr2:189444982-189444983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192564803	chr2:189444985-189444986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113598629	chr2:189444988-189444989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576151725	chr2:189445004-189445005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543491209	chr2:189445006-189445007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565373919	chr2:189445008-189445009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552278128	chr2:189445018-189445019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577364492	chr2:189445048-189445049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373884714	chr2:189445051-189445052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561318646	chr2:189445052-189445053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560003546	chr2:189445055-189445056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111729526	chr2:189445080-189445081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545492472	chr2:189445086-189445087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548227692	chr2:189445094-189445095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563251121	chr2:189445096-189445097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113741811	chr2:189445112-189445113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184946778	chr2:189445113-189445114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570604360	chr2:189445143-189445144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62181295	chr2:189445172-189445173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370586054	chr2:189445177-189445178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552677872	chr2:189445185-189445186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534822450	chr2:189445242-189445243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546440272	chr2:189445259-189445260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568030929	chr2:189445274-189445275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35794163	chr2:189445280-189445281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7566021	chr2:189445289-189445290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397754929	chr2:189445295-189445296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554572567	chr2:189445298-189445299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576014396	chr2:189445325-189445326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537194828	chr2:189445406-189445407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189062827	chr2:189445407-189445408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577226770	chr2:189445423-189445424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570580426	chr2:189445430-189445431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180957134	chr2:189445477-189445478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149752569	chr2:189445479-189445480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575235821	chr2:189445536-189445537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184658484	chr2:189445562-189445563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532864211	chr2:189445570-189445571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145609371	chr2:189445580-189445581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530518227	chr2:189445637-189445638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79263054	chr2:189445639-189445640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564220421	chr2:189445686-189445687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551148036	chr2:189445798-189445799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189414600-189453600	Weak transcription	HUVEC	blood vessel
2	chr2:189417000-189445600	Weak transcription	NHLF	lung
3	chr2:189420200-189454800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:189421400-189450000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:189422800-189448800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:189423000-189449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:189424200-189449800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:189426000-189449800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:189426600-189456200	Weak transcription	Gastric	stomach
11	chr2:189426800-189445800	Weak transcription	Fetal Stomach	stomach
12	chr2:189427000-189449000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:189427200-189445600	Weak transcription	Aorta	Aorta
14	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:189433600-189456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:189433600-189459400	Weak transcription	Psoas Muscle	Psoas
17	chr2:189434400-189445800	Weak transcription	Adipose Nuclei	Adipose
18	chr2:189434400-189463200	Weak transcription	Fetal Intestine Large	intestine
19	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:189435800-189448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:189436400-189463200	Weak transcription	Ovary	ovary
22	chr2:189436600-189449600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:189436600-189449600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:189436800-189446000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:189436800-189448800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:189437000-189448600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:189437000-189449000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:189437000-189454400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:189438400-189448800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:189439000-189449800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:189439200-189448800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:189439400-189449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:189439400-189449800	Weak transcription	Pancreas	Pancrea
34	chr2:189440000-189448800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:189440200-189449600	Weak transcription	Fetal Lung	lung
36	chr2:189440600-189452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:189442400-189446200	Weak transcription	NHDF-Ad	bronchial
38	chr2:189442600-189449800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:189442600-189452600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:189443800-189464000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:189444000-189448200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:189444000-189449000	Weak transcription	Placenta	Placenta
43	chr2:189444800-189446200	Enhancers	Fetal Heart	heart
44	chr2:189445600-189445800	Enhancers	Aorta	Aorta
45	chr2:189445600-189445800	Enhancers	NHLF	lung
46	chr2:189445800-189446000	ZNF genes & repeats	Fetal Stomach	stomach
47	chr2:189445800-189446200	Enhancers	Adipose Nuclei	Adipose
48	chr2:189445800-189446200	Weak transcription	Aorta	Aorta
49	chr2:189445800-189446200	Enhancers	Brain Germinal Matrix	brain
50	chr2:189445800-189460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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