Variant report

Variant	esv3351736
Chromosome Location	chr2:37318748-37320746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37315276..37317556-chr2:37318072..37320717,2	K562	blood:
2	chr2:37319900..37322876-chr2:37323309..37325791,3	MCF-7	breast:
3	chr2:37313406..37315182-chr2:37317081..37319850,2	K562	blood:
4	chr2:37318207..37320295-chr2:37323063..37325034,2	K562	blood:

Variant related genes	Relation type
ENSG00000152133	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139995254	chr2:37318771-37318772	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143457994	chr2:37318774-37318775	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577403237	chr2:37318785-37318786	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185000228	chr2:37318795-37318796	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189333521	chr2:37318798-37318799	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527246834	chr2:37318845-37318846	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181764323	chr2:37318850-37318851	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114823686	chr2:37318852-37318853	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560800360	chr2:37318854-37318855	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548412941	chr2:37318865-37318866	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528414356	chr2:37318875-37318876	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541051351	chr2:37318899-37318900	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546176854	chr2:37319004-37319005	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564571733	chr2:37319043-37319044	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373053059	chr2:37319055-37319056	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201830084	chr2:37319078-37319079	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550621489	chr2:37319089-37319090	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201952934	chr2:37319094-37319095	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375915588	chr2:37319135-37319136	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200084731	chr2:37319139-37319140	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142169254	chr2:37319154-37319155	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs62621388	chr2:37319156-37319157	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs369659513	chr2:37319166-37319167	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373150736	chr2:37319173-37319174	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567163437	chr2:37319179-37319180	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374844463	chr2:37319182-37319183	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199698253	chr2:37319186-37319187	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377575546	chr2:37319203-37319204	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs55823009	chr2:37319211-37319212	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74474978	chr2:37319223-37319224	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369210095	chr2:37319271-37319272	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186791223	chr2:37319283-37319284	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372946346	chr2:37319290-37319291	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556576754	chr2:37319301-37319302	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574837250	chr2:37319312-37319313	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375363032	chr2:37319313-37319314	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150293487	chr2:37319321-37319322	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201570743	chr2:37319352-37319353	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200209016	chr2:37319362-37319363	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200868969	chr2:37319369-37319370	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201245223	chr2:37319370-37319371	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200535916	chr2:37319407-37319408	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564857707	chr2:37319408-37319409	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368200096	chr2:37319428-37319429	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550309990	chr2:37319437-37319438	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189982802	chr2:37319457-37319458	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529793376	chr2:37319461-37319462	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs202239979	chr2:37319496-37319497	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9678952	chr2:37319536-37319537	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs9678191	chr2:37319538-37319539	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312000-37320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:37312200-37320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:37312200-37320000	Weak transcription	Lung	lung
4	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
6	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:37312400-37319400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:37312400-37320000	Weak transcription	Colonic Mucosa	Colon
9	chr2:37312400-37321200	Weak transcription	Right Ventricle	heart
10	chr2:37312400-37332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:37312400-37332600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:37312600-37319000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:37312600-37319600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:37312600-37320000	Weak transcription	Ovary	ovary
15	chr2:37312600-37329200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:37312600-37332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:37312600-37332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:37312800-37321000	Weak transcription	Fetal Brain Male	brain
19	chr2:37312800-37321400	Weak transcription	Fetal Kidney	kidney
20	chr2:37313000-37325600	Weak transcription	Fetal Heart	heart
21	chr2:37313200-37320800	Weak transcription	Small Intestine	intestine
22	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
23	chr2:37313400-37320000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:37313400-37320200	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:37313400-37328000	Weak transcription	Hela-S3	cervix
26	chr2:37313400-37330800	Weak transcription	NHEK	skin
27	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:37314000-37324400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:37314200-37329200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:37314200-37331200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:37314400-37329400	Strong transcription	Fetal Thymus	thymus
32	chr2:37314400-37330600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:37314800-37325200	Strong transcription	Osteobl	bone
36	chr2:37314800-37331200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:37315000-37338200	Strong transcription	Primary T cells from cord blood	blood
38	chr2:37315200-37329000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:37315200-37329200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:37315400-37322200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:37315600-37322400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:37315600-37322600	Strong transcription	Left Ventricle	heart
43	chr2:37315600-37324600	Strong transcription	Brain Germinal Matrix	brain
44	chr2:37315600-37337800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:37315800-37322200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:37315800-37322800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr2:37315800-37326000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:37315800-37328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:37315800-37341200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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