Variant report

Variant	esv3407319
Chromosome Location	chr2:189928989-189932495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr2:189932319-189932331	K562	blood:	n/a	n/a
2	POLR2A	chr2:189931712-189931845	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:189930208-189930532	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189929339..189931354-chr2:189932552..189935028,3	MCF-7	breast:
2	chr2:189929773..189932181-chr2:189934301..189936938,2	K562	blood:

Variant related genes	Relation type
COL5A2	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150346155	chr2:189928999-189929000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146669750	chr2:189929000-189929001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71020981	chr2:189929003-189929004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78978307	chr2:189929004-189929005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571179419	chr2:189929032-189929033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549847442	chr2:189929043-189929044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538558906	chr2:189929099-189929100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554154550	chr2:189929173-189929174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113344591	chr2:189929178-189929179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572360678	chr2:189929203-189929204	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542876149	chr2:189929216-189929217	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185646456	chr2:189929217-189929218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529942909	chr2:189929247-189929248	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201934598	chr2:189929274-189929275	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377360079	chr2:189929311-189929312	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149203102	chr2:189929341-189929342	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369506320	chr2:189929363-189929364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145258293	chr2:189929366-189929367	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77456219	chr2:189929388-189929389	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189970491	chr2:189929400-189929401	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200384423	chr2:189929402-189929403	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377201401	chr2:189929411-189929412	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199650320	chr2:189929416-189929417	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527958643	chr2:189929421-189929422	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543275308	chr2:189929462-189929463	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549185552	chr2:189929508-189929509	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547715276	chr2:189929518-189929519	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143412313	chr2:189929528-189929529	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531313778	chr2:189929553-189929554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34790452	chr2:189929554-189929555	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111401093	chr2:189929595-189929596	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139004896	chr2:189929602-189929603	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565706688	chr2:189929624-189929625	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112923575	chr2:189929662-189929663	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547400416	chr2:189929679-189929680	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370423199	chr2:189929691-189929692	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113029552	chr2:189929698-189929699	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113068976	chr2:189929714-189929715	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566006687	chr2:189929719-189929720	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186490845	chr2:189929721-189929722	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554813305	chr2:189929752-189929753	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200205564	chr2:189929777-189929778	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576139839	chr2:189929804-189929805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116376785	chr2:189929820-189929821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140687796	chr2:189929830-189929831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372733656	chr2:189929848-189929849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545030513	chr2:189929849-189929850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192131514	chr2:189929850-189929851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539632798	chr2:189929876-189929877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183844004	chr2:189929916-189929917	Weak transcription Strong transcription	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 ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
2	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
4	chr2:189895200-189940800	Strong transcription	HSMM	muscle
5	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
7	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
8	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:189897200-189934400	Weak transcription	Gastric	stomach
10	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:189897600-189934000	Weak transcription	Lung	lung
12	chr2:189898400-189938200	Weak transcription	HMEC	breast
13	chr2:189899000-189939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:189901200-189947400	Weak transcription	Fetal Brain Male	brain
16	chr2:189902600-189937000	Strong transcription	NH-A	brain
17	chr2:189904000-189938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:189904400-189934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:189904400-189951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:189904600-189932400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:189907800-189929200	Weak transcription	Liver	Liver
22	chr2:189909200-189936200	Weak transcription	Small Intestine	intestine
23	chr2:189909800-189934200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:189912400-189961600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:189912800-189931200	Weak transcription	Colonic Mucosa	Colon
26	chr2:189914000-189932800	Weak transcription	Fetal Kidney	kidney
27	chr2:189914400-189937000	Strong transcription	Adipose Nuclei	Adipose
28	chr2:189914800-189946800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:189915000-189950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:189915400-189938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:189915400-189951000	Strong transcription	Osteobl	bone
32	chr2:189916200-189929200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:189916200-189947600	Weak transcription	Spleen	Spleen
34	chr2:189917800-189929200	Weak transcription	Aorta	Aorta
35	chr2:189917800-189929400	Weak transcription	Placenta	Placenta
36	chr2:189917800-189932600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:189917800-189934400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:189919000-189930200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:189920400-189930400	Strong transcription	NHDF-Ad	bronchial
40	chr2:189921600-189932600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:189921800-189935400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:189922000-189938000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:189922400-189930600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:189922600-189930400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:189923400-189934000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:189924600-189931400	Strong transcription	Ovary	ovary
48	chr2:189925400-189930400	Weak transcription	HepG2	liver
49	chr2:189925600-189940600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:189926400-189929200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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