Variant report

Variant	esv1807941
Chromosome Location	chr2:183068844-183091601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 873 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17366503	chr2:183068844-183068845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34318365	chr2:183068866-183068867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55750566	chr2:183068867-183068868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74268971	chr2:183068868-183068869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575175097	chr2:183068938-183068939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544183266	chr2:183068939-183068940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371617818	chr2:183068974-183068975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533318431	chr2:183068981-183068982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561032424	chr2:183069013-183069014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79437197	chr2:183069091-183069092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540055485	chr2:183069113-183069114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79680034	chr2:183069131-183069132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532154552	chr2:183069142-183069143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551631454	chr2:183069232-183069233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571705704	chr2:183069240-183069241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193114343	chr2:183069242-183069243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150827147	chr2:183069259-183069260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375751824	chr2:183069333-183069334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554226766	chr2:183069421-183069422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550905318	chr2:183069446-183069447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs724851	chr2:183069452-183069453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs34200314	chr2:183069484-183069485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569513785	chr2:183069488-183069489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553686757	chr2:183069629-183069630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567096789	chr2:183069656-183069657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139032352	chr2:183069696-183069697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558406180	chr2:183069700-183069701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149494204	chr2:183069817-183069818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537467377	chr2:183069846-183069847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554517860	chr2:183069881-183069882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116156883	chr2:183069906-183069907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186752975	chr2:183069920-183069921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191898134	chr2:183069936-183069937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576669051	chr2:183069973-183069974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545943048	chr2:183070023-183070024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552186728	chr2:183070026-183070027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181767191	chr2:183070036-183070037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73043813	chr2:183070082-183070083	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537043367	chr2:183070091-183070092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143943574	chr2:183070153-183070154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576778853	chr2:183070192-183070193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74685505	chr2:183070229-183070230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554449826	chr2:183070235-183070236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115548540	chr2:183070246-183070247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3835906	chr2:183070264-183070265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186501140	chr2:183070297-183070298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547362290	chr2:183070302-183070303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567159312	chr2:183070311-183070312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538867147	chr2:183070317-183070318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189709631	chr2:183070339-183070340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
low-grade B-cell lymphoma tumor	18367492	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183048400-183073000	Weak transcription	Fetal Stomach	stomach
2	chr2:183061000-183085000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:183065800-183087600	Weak transcription	Aorta	Aorta
4	chr2:183065800-183087600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:183066200-183074800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:183066600-183069800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:183067000-183084000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:183067600-183071200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:183069800-183071600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:183071200-183071600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:183071600-183073200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:183071600-183086800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:183072000-183072800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:183072000-183072800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:183072200-183072400	Enhancers	GM12878-XiMat	blood
16	chr2:183072400-183072800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:183072400-183072800	Flanking Active TSS	GM12878-XiMat	blood
18	chr2:183072600-183072800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:183072600-183073000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:183072800-183073400	Enhancers	GM12878-XiMat	blood
21	chr2:183072800-183076600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:183073000-183073400	Strong transcription	Fetal Stomach	stomach
23	chr2:183073200-183075000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:183073400-183074200	Weak transcription	Fetal Stomach	stomach
25	chr2:183074200-183074600	Strong transcription	Fetal Stomach	stomach
26	chr2:183074600-183076200	Weak transcription	Fetal Stomach	stomach
27	chr2:183074800-183076200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:183075000-183075200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:183075200-183076800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:183076200-183083600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:183076800-183083200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:183083200-183085800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:183083600-183083800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:183083800-183086800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:183084000-183086400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:183084200-183084400	Enhancers	Fetal Kidney	kidney
37	chr2:183084200-183085000	Enhancers	Fetal Brain Male	brain
38	chr2:183084200-183086200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:183084200-183086200	Enhancers	Brain Germinal Matrix	brain
40	chr2:183084200-183086200	Enhancers	Fetal Brain Female	brain
41	chr2:183084400-183086200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:183084400-183090600	Weak transcription	Fetal Kidney	kidney
43	chr2:183084400-183095200	Weak transcription	Left Ventricle	heart
44	chr2:183084800-183085800	Enhancers	Brain Substantia Nigra	brain
45	chr2:183084800-183086400	Enhancers	Brain Angular Gyrus	brain
46	chr2:183085000-183085400	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:183085000-183085400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:183085000-183085400	Weak transcription	Fetal Brain Male	brain
49	chr2:183085000-183086200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:183085000-183086400	Enhancers	Brain Inferior Temporal Lobe	brain

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