Variant report

Variant	esv274925
Chromosome Location	chr2:189285245-189291333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189288445..189291113-chr2:189295850..189297489,2	K562	blood:
2	chr2:189281923..189283556-chr2:189285039..189287990,2	MCF-7	breast:
3	chr2:189269523..189271101-chr2:189286917..189288426,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs78286181	chr2:189285252-189285253	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546039597	chr2:189285253-189285254	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547604153	chr2:189285260-189285261	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573574822	chr2:189285265-189285266	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190156463	chr2:189285283-189285284	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142068259	chr2:189285380-189285381	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112422834	chr2:189285410-189285411	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529008909	chr2:189285495-189285496	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182010790	chr2:189285573-189285574	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183814310	chr2:189285595-189285596	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533163903	chr2:189285596-189285597	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551116967	chr2:189285654-189285655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566480005	chr2:189285665-189285666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546295316	chr2:189285686-189285687	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10211189	chr2:189285687-189285688	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs532288768	chr2:189285734-189285735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs546615041	chr2:189285812-189285813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188641769	chr2:189285844-189285845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113977046	chr2:189285973-189285974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367555179	chr2:189286019-189286020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535445409	chr2:189286029-189286030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551061032	chr2:189286045-189286046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569206560	chr2:189286059-189286060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151132153	chr2:189286121-189286122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140406980	chr2:189286180-189286181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145608121	chr2:189286364-189286365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114622206	chr2:189286379-189286380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568708545	chr2:189286484-189286485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113304753	chr2:189286632-189286633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555749570	chr2:189286664-189286665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573602394	chr2:189286675-189286676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4666761	chr2:189286687-189286688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562610316	chr2:189286725-189286726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572655344	chr2:189286771-189286772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544847550	chr2:189286772-189286773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561198523	chr2:189286781-189286782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73040442	chr2:189286842-189286843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541635922	chr2:189286933-189286934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180730429	chr2:189286938-189286939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548888754	chr2:189287014-189287015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560980734	chr2:189287035-189287036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185214362	chr2:189287037-189287038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369669558	chr2:189287065-189287066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543364680	chr2:189287132-189287133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144618546	chr2:189287133-189287134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115166782	chr2:189287189-189287190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62183212	chr2:189287251-189287252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs192207578	chr2:189287317-189287318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182289456	chr2:189287334-189287335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141048771	chr2:189287406-189287407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189276400-189289800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:189276600-189290800	Weak transcription	Placenta	Placenta
3	chr2:189277000-189289400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:189277000-189289600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:189283400-189285800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:189283400-189285800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr2:189283400-189292200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:189283800-189285600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:189284000-189285800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:189285000-189285600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:189285200-189285400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:189285200-189285400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr2:189285200-189285600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:189285200-189285600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:189285200-189285600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:189285200-189285600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:189285200-189285600	ZNF genes & repeats	Aorta	Aorta
18	chr2:189285200-189285600	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr2:189285200-189285800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr2:189285200-189285800	ZNF genes & repeats	Fetal Lung	lung
21	chr2:189285400-189285600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr2:189285400-189290800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:189285600-189286800	Weak transcription	Aorta	Aorta
24	chr2:189285600-189287600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:189285600-189289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:189285600-189290000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:189285600-189290200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:189285600-189290200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:189285600-189291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:189285600-189292600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:189285600-189318800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:189285800-189287400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:189285800-189290000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:189285800-189318200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:189287400-189287800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:189287600-189287800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:189287600-189289000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:189287800-189289200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:189287800-189294000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:189289000-189289800	Weak transcription	A549	lung
41	chr2:189289000-189293400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:189289200-189293600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:189289400-189292200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:189289600-189292000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:189289600-189292800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:189289800-189290000	Enhancers	A549	lung
47	chr2:189289800-189291800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:189290000-189290200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:189290000-189291800	Weak transcription	A549	lung
50	chr2:189290000-189292600	Enhancers	HUES6 Cell Line	embryonic stem cell

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