Variant report

Variant	esv3449905
Chromosome Location	chr3:100450913-100451320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100451065..100453351-chr3:100454518..100456261,2	K562	blood:
2	chr3:100442764..100445441-chr3:100450170..100452232,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566658520	chr3:100450956-100450957	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372174157	chr3:100450966-100450967	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2460720	chr3:100450975-100450976	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553380057	chr3:100450987-100450988	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555894087	chr3:100450990-100450991	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs422056	chr3:100450991-100450992	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148479730	chr3:100450999-100451000	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537963070	chr3:100451020-100451021	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3841652	chr3:100451028-100451029	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397318	chr3:100451038-100451039	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397320	chr3:100451039-100451040	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs435035	chr3:100451072-100451073	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369214559	chr3:100451084-100451085	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs424381	chr3:100451098-100451099	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186920	chr3:100451105-100451106	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529996647	chr3:100451131-100451132	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs448919	chr3:100451133-100451134	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373811	chr3:100451154-100451155	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72930734	chr3:100451171-100451172	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548226230	chr3:100451189-100451190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76698104	chr3:100451205-100451206	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370894142	chr3:100451232-100451233	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572300331	chr3:100451233-100451234	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542762385	chr3:100451243-100451244	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561153548	chr3:100451270-100451271	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528950835	chr3:100451271-100451272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100429600-100454400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:100429800-100454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:100429800-100455200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:100429800-100475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:100430400-100473000	Strong transcription	Fetal Thymus	thymus
6	chr3:100431000-100454400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:100431200-100473000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:100431400-100452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:100432400-100474400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:100432800-100473600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:100433000-100472400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:100433200-100451800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:100434400-100478200	Weak transcription	Spleen	Spleen
14	chr3:100435600-100455400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:100436000-100474400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:100436600-100471600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:100436800-100473000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:100437000-100461600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr3:100437200-100453800	Weak transcription	Small Intestine	intestine
20	chr3:100437400-100472600	Strong transcription	Dnd41	blood
21	chr3:100437600-100475000	Strong transcription	Placenta	Placenta
22	chr3:100437800-100474400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:100438800-100473800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:100441000-100452800	Weak transcription	Colonic Mucosa	Colon
25	chr3:100441000-100452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:100441000-100453000	Weak transcription	Aorta	Aorta
27	chr3:100441000-100456200	Weak transcription	Gastric	stomach
28	chr3:100441000-100458600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:100441000-100470800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:100441000-100473000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:100441000-100474400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:100441000-100479400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:100443200-100462200	Strong transcription	Adipose Nuclei	Adipose
34	chr3:100443400-100472200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:100443600-100466000	Strong transcription	Fetal Intestine Large	intestine
36	chr3:100444600-100471800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr3:100444600-100474400	Strong transcription	HSMM	muscle
38	chr3:100444800-100451400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:100445200-100453200	Weak transcription	Stomach Mucosa	stomach
40	chr3:100445200-100456200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:100445200-100457400	Strong transcription	Hela-S3	cervix
42	chr3:100445200-100470400	Strong transcription	HepG2	liver
43	chr3:100445400-100455400	Weak transcription	Right Atrium	heart
44	chr3:100445400-100472200	Weak transcription	Psoas Muscle	Psoas
45	chr3:100445400-100473800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:100445400-100475600	Weak transcription	Pancreas	Pancrea
47	chr3:100445600-100451400	Weak transcription	Thymus	Thymus
48	chr3:100445600-100455200	Weak transcription	Brain Germinal Matrix	brain
49	chr3:100445600-100455400	Weak transcription	Brain Anterior Caudate	brain
50	chr3:100445800-100456000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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