Variant report

Variant	esv2762493
Chromosome Location	chr2:36958342-36965718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:36956863..36959854-chr2:36963372..36965753,3	MCF-7	breast:
2	chr2:36956863..36959854-chr2:36963372..36965753,3	MCF-7	breast:
3	chr2:36961444..36963530-chr2:36969103..36971971,2	K562	blood:
4	chr2:36963255..36965422-chr2:36965948..36967670,2	MCF-7	breast:
5	chr2:36959452..36962419-chr2:36962892..36964794,2	K562	blood:
6	chr2:36959452..36962419-chr2:36962892..36964794,2	K562	blood:
7	chr2:36961890..36963981-chr2:36965860..36967970,2	K562	blood:
8	chr2:36962011..36964791-chr2:36981285..36983964,3	MCF-7	breast:

No data

Extended variants
information (count: 340 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11900660	chr2:36958342-36958343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144890281	chr2:36958363-36958364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6710234	chr2:36958374-36958375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13397655	chr2:36958408-36958409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550282126	chr2:36958414-36958415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187891333	chr2:36958448-36958449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536567966	chr2:36958456-36958457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548466820	chr2:36958486-36958487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566678343	chr2:36958509-36958510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533746983	chr2:36958512-36958513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559049485	chr2:36958534-36958535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577251607	chr2:36958543-36958544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566254062	chr2:36958565-36958566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6710484	chr2:36958577-36958578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369436667	chr2:36958578-36958579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556298882	chr2:36958593-36958594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10202595	chr2:36958604-36958605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13398046	chr2:36958610-36958611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574269854	chr2:36958637-36958638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189847178	chr2:36958652-36958653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192230754	chr2:36958658-36958659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546062378	chr2:36958661-36958662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141702368	chr2:36958679-36958680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143758807	chr2:36958705-36958706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375709816	chr2:36958709-36958710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562479667	chr2:36958758-36958759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13423449	chr2:36958780-36958781	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548552598	chr2:36958785-36958786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556825698	chr2:36958799-36958800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13423458	chr2:36958829-36958830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs527517346	chr2:36958846-36958847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545603969	chr2:36958864-36958865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386644890	chr2:36958879-36958880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552065088	chr2:36958920-36958921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183898300	chr2:36958925-36958926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10179564	chr2:36958959-36958960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188728633	chr2:36959026-36959027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116168759	chr2:36959061-36959062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560536560	chr2:36959067-36959068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535447508	chr2:36959074-36959075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554077562	chr2:36959094-36959095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529135416	chr2:36959126-36959127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572626648	chr2:36959130-36959131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546445107	chr2:36959143-36959144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558087448	chr2:36959196-36959197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576542267	chr2:36959197-36959198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368362932	chr2:36959202-36959203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370857314	chr2:36959226-36959227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180807590	chr2:36959271-36959272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562569117	chr2:36959272-36959273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36941000-36960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:36942600-36968800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:36948400-36958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:36951800-36958800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:36957000-36958800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:36957000-36959200	Weak transcription	NHDF-Ad	bronchial
7	chr2:36957800-36959200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:36958000-36962000	Enhancers	Hela-S3	cervix
9	chr2:36958000-36968200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:36958000-36970800	Weak transcription	Ovary	ovary
11	chr2:36958200-36960600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:36958200-36963600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:36958800-36959600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:36958800-36960200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:36958800-36960200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:36958800-36961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:36958800-36961000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:36958800-36961600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:36959000-36959400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:36959000-36959400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:36959000-36959600	Enhancers	Fetal Lung	lung
22	chr2:36959000-36959800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:36959000-36960000	Enhancers	Osteobl	bone
24	chr2:36959000-36960400	Enhancers	Placenta	Placenta
25	chr2:36959000-36960400	Enhancers	Fetal Stomach	stomach
26	chr2:36959200-36959400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:36959200-36960000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:36959200-36960200	Enhancers	NHDF-Ad	bronchial
29	chr2:36959400-36959800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:36959600-36960000	Enhancers	NHEK	skin
31	chr2:36959600-36960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:36959600-36960600	Enhancers	Fetal Muscle Leg	muscle
33	chr2:36959800-36960000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:36959800-36960400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:36960000-36961000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:36960000-36961200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:36960000-36961400	Weak transcription	Osteobl	bone
38	chr2:36960200-36960400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:36960200-36960600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:36960200-36960800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:36960200-36961200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:36960200-36980400	Weak transcription	NHDF-Ad	bronchial
43	chr2:36960400-36960800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:36960400-36960800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:36960400-36961800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:36960400-36961800	Weak transcription	Placenta	Placenta
47	chr2:36960600-36964400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:36960800-36961000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr2:36960800-36962800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:36960800-36963400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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