Variant report

Variant	esv3434359
Chromosome Location	chr2:173206993-173207304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369526443	chr2:173207032-173207033	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs571137921	chr2:173207067-173207068	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs10182389	chr2:173207116-173207117	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs372437689	chr2:173207135-173207136	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs10205762	chr2:173207151-173207152	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150135674	chr2:173207153-173207154	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs553855435	chr2:173207181-173207182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs531887732	chr2:173207196-173207197	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs538269220	chr2:173207199-173207200	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs536002093	chr2:173207202-173207203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36089019	chr2:173207228-173207229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11682185	chr2:173207241-173207242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76561584	chr2:173207242-173207243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189463986	chr2:173207258-173207259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11682108	chr2:173207262-173207263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537206284	chr2:173207270-173207271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559179922	chr2:173207273-173207274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113594831	chr2:173207288-173207289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191768131	chr2:173207292-173207293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Breast cancer	21364760	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173199600-173208000	Enhancers	Stomach Mucosa	stomach
2	chr2:173202400-173207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:173203600-173208400	Enhancers	Fetal Intestine Large	intestine
4	chr2:173204600-173207000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:173204600-173207000	Weak transcription	Spleen	Spleen
6	chr2:173204600-173218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:173205200-173207400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:173205200-173207400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:173205200-173209000	Weak transcription	Brain Anterior Caudate	brain
10	chr2:173205400-173207000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:173205400-173207000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:173205400-173208000	Enhancers	Fetal Intestine Small	intestine
13	chr2:173205600-173209000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:173205800-173207000	Enhancers	Liver	Liver
15	chr2:173205800-173207400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:173205800-173207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:173205800-173207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:173206000-173207600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:173206000-173207800	Enhancers	Ovary	ovary
20	chr2:173206200-173207000	Weak transcription	Osteobl	bone
21	chr2:173206400-173207000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:173206600-173207000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr2:173206800-173207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:173206800-173207000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:173206800-173207000	Enhancers	Brain Substantia Nigra	brain
26	chr2:173206800-173207000	Enhancers	Colonic Mucosa	Colon
27	chr2:173206800-173207000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:173206800-173207000	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr2:173206800-173207200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:173206800-173207200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:173206800-173207200	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:173206800-173207200	Enhancers	Fetal Muscle Leg	muscle
33	chr2:173206800-173207200	Enhancers	Left Ventricle	heart
34	chr2:173206800-173207200	Enhancers	Lung	lung
35	chr2:173206800-173207200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr2:173206800-173207200	Enhancers	Right Atrium	heart
37	chr2:173206800-173207200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr2:173206800-173207400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:173206800-173207800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:173206800-173207800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:173206800-173207800	Enhancers	Gastric	stomach
42	chr2:173206800-173207800	Enhancers	Small Intestine	intestine
43	chr2:173206800-173208400	Enhancers	Pancreas	Pancrea
44	chr2:173207000-173207200	Flanking Active TSS	Colonic Mucosa	Colon
45	chr2:173207000-173207200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr2:173207000-173207200	Bivalent Enhancer	HepG2	liver
47	chr2:173207000-173207200	Enhancers	Osteobl	bone
48	chr2:173207000-173207600	Enhancers	Spleen	Spleen
49	chr2:173207000-173207800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:173207000-173207800	Enhancers	H9 Cell Line	embryonic stem cell

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