Variant report

Variant	esv275350
Chromosome Location	chr2:40332851-40338067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:40336603-40336904	Hela-S3	cervix:	n/a	n/a
2	MAFF	chr2:40336805-40337023	HepG2	liver:	n/a	n/a
3	MAFF	chr2:40336887-40336893	K562	blood:	n/a	n/a
4	MAFK	chr2:40336800-40337073	HepG2	liver:	n/a	n/a
5	MAFK	chr2:40336886-40336995	IMR90	lung:	n/a	n/a
6	MAFK	chr2:40336813-40337059	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:40333125-40333134	ProgFib	skin:	n/a	n/a
8	POLR2A	chr2:40332806-40333012	ProgFib	skin:	n/a	n/a
9	STAT3	chr2:40336326-40336396	MCF10A-Er-Src	breast:	n/a	n/a
10	ZNF217	chr2:40336581-40336829	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40334175..40336560-chr2:40339727..40341466,2	MCF-7	breast:
2	chr2:40319121..40321528-chr2:40332638..40334554,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-2	chr2:40335064-40335843	ucscGeneNc_uc002rrw_2

No data

Variant related genes	Relation type
SLC8A1-AS1	TF binding region

Extended variants
information (count: 227 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6736628	chr2:40332851-40332852	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542474602	chr2:40332870-40332871	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560724266	chr2:40332876-40332877	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184801403	chr2:40332887-40332888	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200718406	chr2:40332888-40332889	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117793626	chr2:40332927-40332928	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546527273	chr2:40332933-40332934	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564831944	chr2:40332936-40332937	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532036464	chr2:40332978-40332979	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550533794	chr2:40332983-40332984	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568873799	chr2:40333055-40333056	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544337759	chr2:40333058-40333059	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs549600977	chr2:40333069-40333070	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs377177773	chr2:40333106-40333107	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs2373790	chr2:40333107-40333108	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs531394280	chr2:40333116-40333117	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572389123	chr2:40333130-40333131	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189202786	chr2:40333139-40333140	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs17558542	chr2:40333152-40333153	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140535088	chr2:40333163-40333164	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557290891	chr2:40333202-40333203	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376562558	chr2:40333239-40333240	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575672339	chr2:40333256-40333257	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57937142	chr2:40333330-40333331	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542668222	chr2:40333356-40333357	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536516556	chr2:40333373-40333374	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554631610	chr2:40333384-40333385	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144259983	chr2:40333405-40333406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545287128	chr2:40333513-40333514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145254057	chr2:40333566-40333567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532400237	chr2:40333595-40333596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75081561	chr2:40333612-40333613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398080197	chr2:40333621-40333622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371206301	chr2:40333622-40333623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543885049	chr2:40333623-40333624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554890007	chr2:40333626-40333627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529760988	chr2:40333632-40333633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548346296	chr2:40333636-40333637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566570508	chr2:40333697-40333698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528726319	chr2:40333771-40333772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547201745	chr2:40333791-40333792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370496400	chr2:40333875-40333876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571864684	chr2:40333881-40333882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539293935	chr2:40333972-40333973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557083937	chr2:40333981-40333982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17499461	chr2:40333990-40333991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546676273	chr2:40333999-40334000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547702471	chr2:40334101-40334102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554668678	chr2:40334163-40334164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572983413	chr2:40334179-40334180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	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
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
2	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
3	chr2:40326000-40333600	Enhancers	Fetal Heart	heart
4	chr2:40326600-40333400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:40329000-40341400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:40329600-40341400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40329800-40337400	Weak transcription	Left Ventricle	heart
9	chr2:40329800-40342400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:40329800-40345200	Weak transcription	Fetal Thymus	thymus
11	chr2:40330600-40333400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:40331000-40340800	Weak transcription	Dnd41	blood
13	chr2:40331200-40333200	Enhancers	NHLF	lung
14	chr2:40331200-40350200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:40331200-40351200	Weak transcription	Fetal Stomach	stomach
16	chr2:40331400-40334000	Weak transcription	Ovary	ovary
17	chr2:40332000-40333200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:40332400-40333200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:40332400-40333200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:40332400-40333200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:40332400-40333400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:40332600-40333000	Active TSS	Aorta	Aorta
23	chr2:40332600-40333000	Active TSS	Brain Anterior Caudate	brain
24	chr2:40332600-40333000	Active TSS	A549	lung
25	chr2:40332600-40333000	Flanking Active TSS	HMEC	breast
26	chr2:40332600-40333000	Flanking Active TSS	NHEK	skin
27	chr2:40332600-40333200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:40332600-40333200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:40332600-40333200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:40332600-40333200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:40332600-40333200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr2:40332600-40333200	Flanking Active TSS	Osteobl	bone
33	chr2:40332600-40333400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:40332600-40333400	Enhancers	NH-A	brain
35	chr2:40332600-40333600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:40332800-40333000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:40332800-40333000	Enhancers	HSMM	muscle
38	chr2:40332800-40333200	Flanking Active TSS	HSMMtube	muscle
39	chr2:40332800-40333600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:40333000-40333200	Enhancers	Psoas Muscle	Psoas
41	chr2:40333000-40333200	Enhancers	NHEK	skin
42	chr2:40333000-40333400	Genic enhancers	HSMM	muscle
43	chr2:40333000-40333600	Enhancers	HMEC	breast
44	chr2:40333000-40351000	Weak transcription	Aorta	Aorta
45	chr2:40333200-40333400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:40333200-40333400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr2:40333200-40333600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:40333200-40333600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:40333200-40333600	Enhancers	HSMMtube	muscle
50	chr2:40333200-40333600	Enhancers	NHDF-Ad	bronchial

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