Variant report

Variant	esv3365781
Chromosome Location	chr2:173817156-173819254
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	chr2:173818940..173821584-chr2:173840789..173843259,2	K562	blood:
2	chr2:173818468..173819994-chr2:173826020..173827829,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540526203	chr2:173817217-173817218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558784894	chr2:173817283-173817284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2592941	chr2:173817340-173817341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs115369352	chr2:173817354-173817355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563034048	chr2:173817356-173817357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530127930	chr2:173817370-173817371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542856727	chr2:173817398-173817399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150110892	chr2:173817413-173817414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528257800	chr2:173817418-173817419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138294965	chr2:173817441-173817442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377288802	chr2:173817473-173817474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532171675	chr2:173817493-173817494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79591770	chr2:173817495-173817496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149613977	chr2:173817597-173817598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112358585	chr2:173817636-173817637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544284812	chr2:173817651-173817652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554603362	chr2:173817669-173817670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186172881	chr2:173817672-173817673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113035519	chr2:173817701-173817702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190198227	chr2:173817708-173817709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2676504	chr2:173817718-173817719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373145999	chr2:173817727-173817728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577106815	chr2:173817729-173817730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181422971	chr2:173817732-173817733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186004082	chr2:173817733-173817734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78314705	chr2:173817750-173817751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560604008	chr2:173817759-173817760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11682251	chr2:173817791-173817792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2592940	chr2:173817824-173817825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs35789699	chr2:173817912-173817913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556127030	chr2:173817971-173817972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565211707	chr2:173818001-173818002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183444467	chr2:173818013-173818014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550597227	chr2:173818102-173818103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373559682	chr2:173818121-173818122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575983000	chr2:173818136-173818137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141032622	chr2:173818171-173818172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12469665	chr2:173818175-173818176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28495224	chr2:173818199-173818200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530871639	chr2:173818270-173818271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529651449	chr2:173818296-173818297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13025720	chr2:173818307-173818308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552155331	chr2:173818327-173818328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116303169	chr2:173818395-173818396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187827600	chr2:173818425-173818426	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs58993781	chr2:173818515-173818516	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564073363	chr2:173818534-173818535	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs570857664	chr2:173818567-173818568	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs538154505	chr2:173818634-173818635	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs556777041	chr2:173818673-173818674	Enhancers Weak transcription Bivalent Enhancer	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173800600-173829400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173807800-173831600	Weak transcription	Left Ventricle	heart
3	chr2:173813000-173818200	Weak transcription	Osteobl	bone
4	chr2:173813000-173818400	Weak transcription	NHLF	lung
5	chr2:173813600-173817600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:173816400-173817200	Enhancers	Thymus	Thymus
7	chr2:173816600-173820200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:173816600-173831800	Weak transcription	Lung	lung
9	chr2:173816800-173817600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:173816800-173818800	Weak transcription	Hela-S3	cervix
11	chr2:173816800-173821600	Weak transcription	Fetal Thymus	thymus
12	chr2:173817000-173820200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:173817200-173821600	Weak transcription	Thymus	Thymus
14	chr2:173817400-173819000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:173817600-173817800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:173817600-173817800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:173817600-173818800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:173817800-173818200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:173817800-173818200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:173818200-173819800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:173818200-173819800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:173818200-173820000	Enhancers	Osteobl	bone
23	chr2:173818400-173818600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:173818400-173819200	Enhancers	NHLF	lung
25	chr2:173818400-173819600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:173818400-173819800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:173818400-173819800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:173818400-173819800	Enhancers	NHEK	skin
29	chr2:173818400-173820000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:173818400-173820000	Bivalent Enhancer	NHDF-Ad	bronchial
31	chr2:173818400-173820200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:173818600-173818800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:173818600-173819000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:173818600-173819000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:173818600-173819400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:173818600-173819800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:173818600-173819800	Enhancers	NH-A	brain
38	chr2:173818600-173820000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:173818800-173819000	Enhancers	Hela-S3	cervix
40	chr2:173818800-173819200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:173818800-173820400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:173819000-173819400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:173819200-173819400	Bivalent Enhancer	Fetal Lung	lung
44	chr2:173819200-173819600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:173819200-173827000	Weak transcription	NHLF	lung

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