Variant report

Variant	esv3367527
Chromosome Location	chr3:109894762-109899060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557821775	chr3:109896654-109896655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371991979	chr3:109896665-109896666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374677286	chr3:109896682-109896683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563545700	chr3:109896683-109896684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534019507	chr3:109896695-109896696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140335943	chr3:109896721-109896722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73211592	chr3:109896779-109896780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542784627	chr3:109896781-109896782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563210535	chr3:109896787-109896788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576618209	chr3:109896812-109896813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144343361	chr3:109896819-109896820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546298958	chr3:109896822-109896823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564722320	chr3:109896838-109896839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527420080	chr3:109896852-109896853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368298558	chr3:109896890-109896891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560940380	chr3:109896891-109896892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146570146	chr3:109896956-109896957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564620250	chr3:109896961-109896962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549671741	chr3:109897019-109897020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569938279	chr3:109897021-109897022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532303139	chr3:109897102-109897103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552767861	chr3:109897106-109897107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11923087	chr3:109897189-109897190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200045507	chr3:109897192-109897193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397812083	chr3:109897202-109897203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557590865	chr3:109897209-109897210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140953953	chr3:109897247-109897248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180710495	chr3:109897290-109897291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553869879	chr3:109897324-109897325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs58958221	chr3:109897333-109897334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536861675	chr3:109897361-109897362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556433111	chr3:109897376-109897377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546827489	chr3:109897431-109897432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73851404	chr3:109897436-109897437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185315261	chr3:109897444-109897445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150196469	chr3:109897450-109897451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529197201	chr3:109897457-109897458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368135635	chr3:109897553-109897554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138697647	chr3:109897555-109897556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540996107	chr3:109897569-109897570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560977124	chr3:109897573-109897574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530443273	chr3:109897610-109897611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550226883	chr3:109897617-109897618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550517545	chr3:109897628-109897629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570195328	chr3:109897762-109897763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568737614	chr3:109897808-109897809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529770437	chr3:109897833-109897834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539092500	chr3:109897852-109897853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543649022	chr3:109897878-109897879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35664508	chr3:109897885-109897886	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109896600-109896800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:109896800-109897800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:109896800-109898400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:109897400-109898200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:109897400-109898400	Enhancers	Brain Substantia Nigra	brain
6	chr3:109897400-109899600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:109897600-109898200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:109897600-109898400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:109897600-109898400	Enhancers	Liver	Liver
10	chr3:109897600-109898800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:109897800-109898000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:109897800-109898000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:109897800-109898000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:109897800-109898200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:109897800-109898200	Enhancers	NHDF-Ad	bronchial
16	chr3:109897800-109898200	Enhancers	Osteobl	bone
17	chr3:109897800-109898400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:109897800-109900000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:109897800-109900000	Enhancers	Adipose Nuclei	Adipose
20	chr3:109898000-109898400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:109898000-109899000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:109898000-109899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:109898400-109899400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:109898400-109899400	Weak transcription	Liver	Liver
25	chr3:109898400-109899600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:109898400-109899600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:109898400-109899600	Weak transcription	Brain Substantia Nigra	brain
28	chr3:109898400-109900200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:109898800-109899000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:109898800-109899800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:109899000-109899400	Enhancers	Ovary	ovary
32	chr3:109899000-109900400	Enhancers	Cortex derived primary cultured neurospheres	brain

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