Variant report

Variant	esv2350180
Chromosome Location	chr3:101482541-101482970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101480738..101484474-chr3:101485268..101487879,3	K562	blood:
2	chr3:101482859..101484474-chr3:101486129..101487850,2	K562	blood:
3	chr3:101405140..101408141-chr3:101480643..101483733,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114391	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528762297	chr3:101482553-101482554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527557847	chr3:101482568-101482569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78646328	chr3:101482583-101482584	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560902746	chr3:101482590-101482591	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72935896	chr3:101482626-101482627	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549947362	chr3:101482689-101482690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571307398	chr3:101482700-101482701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141406610	chr3:101482720-101482721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs62284200	chr3:101482736-101482737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62284201	chr3:101482745-101482746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62284202	chr3:101482751-101482752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373327018	chr3:101482758-101482759	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200221586	chr3:101482759-101482760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200738845	chr3:101482761-101482762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181822398	chr3:101482779-101482780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115563688	chr3:101482817-101482818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141829713	chr3:101482830-101482831	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535550330	chr3:101482854-101482855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557454328	chr3:101482880-101482881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373929611	chr3:101482894-101482895	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369741251	chr3:101482940-101482941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101445600-101497400	Weak transcription	Fetal Heart	heart
2	chr3:101453800-101487000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:101464200-101486400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:101472800-101488400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:101473000-101484400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:101473000-101485400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:101473000-101485400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:101473000-101486000	Strong transcription	Dnd41	blood
9	chr3:101473400-101484600	Strong transcription	Fetal Thymus	thymus
10	chr3:101473800-101484600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr3:101473800-101487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:101474000-101484400	Strong transcription	Thymus	Thymus
13	chr3:101474200-101483000	Strong transcription	Brain Germinal Matrix	brain
14	chr3:101474200-101484400	Strong transcription	Primary T cells from cord blood	blood
15	chr3:101474200-101484400	Strong transcription	Fetal Muscle Leg	muscle
16	chr3:101474400-101485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:101474800-101490600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:101475000-101483800	Weak transcription	Hela-S3	cervix
19	chr3:101475000-101486400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:101475600-101485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:101475600-101488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:101475800-101482800	Weak transcription	Fetal Intestine Small	intestine
23	chr3:101477000-101487200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr3:101477200-101497400	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:101477400-101486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:101477400-101486600	Weak transcription	Esophagus	oesophagus
27	chr3:101477400-101497600	Weak transcription	Right Ventricle	heart
28	chr3:101477600-101483800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:101477600-101484000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:101477600-101486000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:101477600-101486000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:101477600-101488400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:101477600-101488400	Weak transcription	Spleen	Spleen
34	chr3:101477600-101497400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:101477800-101487800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:101478000-101482600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:101478000-101483600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:101478000-101483800	Weak transcription	HMEC	breast
39	chr3:101478000-101489000	Weak transcription	Gastric	stomach
40	chr3:101478000-101497400	Weak transcription	NHEK	skin
41	chr3:101478200-101482600	Weak transcription	Brain Anterior Caudate	brain
42	chr3:101478200-101482600	Weak transcription	Placenta	Placenta
43	chr3:101478200-101483600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:101478200-101484200	Weak transcription	Liver	Liver
45	chr3:101478400-101483800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:101478400-101483800	Weak transcription	Brain Substantia Nigra	brain
47	chr3:101478400-101485600	Weak transcription	Psoas Muscle	Psoas
48	chr3:101478400-101487000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:101478600-101482600	Weak transcription	Fetal Lung	lung
50	chr3:101478600-101483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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