Variant report

Variant	nsv822194
Chromosome Location	chr3:99600260-99604375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:99599836..99602681-chr3:99604247..99606316,2	K562	blood:
2	chr3:99596053..99600789-chr3:99601531..99605674,5	MCF-7	breast:
3	chr3:99601088..99603478-chr3:99611897..99614954,3	MCF-7	breast:
4	chr3:99596053..99600789-chr3:99601531..99605674,5	MCF-7	breast:
5	chr3:99591437..99593701-chr3:99599542..99601612,3	K562	blood:
6	chr3:99603421..99605877-chr3:99613161..99615005,2	MCF-7	breast:
7	chr3:99603110..99605515-chr3:99787025..99789865,2	MCF-7	breast:
8	chr3:99602517..99605057-chr7:140621979..140624575,2	MCF-7	breast:
9	chr3:99599836..99602681-chr3:99604247..99606316,2	K562	blood:
10	chr3:99542264..99544347-chr3:99597790..99600681,3	K562	blood:
11	chr3:99601766..99603960-chr3:99724495..99726434,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157764	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554669936	chr3:99600300-99600301	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs192039162	chr3:99600308-99600309	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551887924	chr3:99600370-99600371	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576743721	chr3:99600379-99600380	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79635609	chr3:99600395-99600396	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs7625813	chr3:99600433-99600434	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183469079	chr3:99600491-99600492	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549331940	chr3:99600499-99600500	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150260816	chr3:99600528-99600529	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138965828	chr3:99600565-99600566	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142142434	chr3:99600566-99600567	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571654006	chr3:99600597-99600598	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539171755	chr3:99600606-99600607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547565094	chr3:99600623-99600624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565969282	chr3:99600734-99600735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536427890	chr3:99600752-99600753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34731675	chr3:99600780-99600781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577476341	chr3:99600788-99600789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554866966	chr3:99600853-99600854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6808420	chr3:99600917-99600918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537450634	chr3:99600918-99600919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556075187	chr3:99600985-99600986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577560474	chr3:99601065-99601066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545127482	chr3:99601110-99601111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6762809	chr3:99601124-99601125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149570625	chr3:99601148-99601149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542815040	chr3:99601155-99601156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561181387	chr3:99601160-99601161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559344302	chr3:99601208-99601209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531588403	chr3:99601230-99601231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549805164	chr3:99601251-99601252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565321838	chr3:99601266-99601267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79215580	chr3:99601271-99601272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547900569	chr3:99601277-99601278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187399273	chr3:99601322-99601323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536467008	chr3:99601365-99601366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192249827	chr3:99601448-99601449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570014334	chr3:99601481-99601482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539828632	chr3:99601517-99601518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144240340	chr3:99601536-99601537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571254337	chr3:99601573-99601574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538233561	chr3:99601617-99601618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563422017	chr3:99601629-99601630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148705781	chr3:99601631-99601632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542847443	chr3:99601647-99601648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79109899	chr3:99601666-99601667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75607151	chr3:99601667-99601668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77554020	chr3:99601668-99601669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74476178	chr3:99601670-99601671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576148876	chr3:99601677-99601678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99595200-99602800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:99595400-99600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:99595400-99602800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:99595400-99603000	Weak transcription	Stomach Mucosa	stomach
5	chr3:99595400-99603400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:99595400-99603400	Weak transcription	Small Intestine	intestine
7	chr3:99595400-99608400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:99595600-99600400	Weak transcription	Left Ventricle	heart
9	chr3:99595600-99602600	Weak transcription	Fetal Intestine Large	intestine
10	chr3:99595600-99603200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:99595600-99607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:99595600-99612800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:99595800-99600400	Weak transcription	Ovary	ovary
14	chr3:99595800-99601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:99595800-99603200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:99596000-99603000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:99596000-99603200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:99596600-99614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:99596800-99600400	Weak transcription	Aorta	Aorta
20	chr3:99596800-99601000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:99596800-99602600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:99597000-99603400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:99597200-99602800	Weak transcription	K562	blood
24	chr3:99597200-99603000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:99597200-99603400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:99597200-99614200	Weak transcription	HMEC	breast
27	chr3:99597400-99602800	Weak transcription	NHEK	skin
28	chr3:99597800-99603400	Weak transcription	GM12878-XiMat	blood
29	chr3:99598600-99600600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr3:99599600-99600600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:99599600-99600800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:99599600-99601000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:99599800-99600400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:99599800-99600400	Enhancers	Fetal Intestine Small	intestine
35	chr3:99599800-99600600	Enhancers	Brain Anterior Caudate	brain
36	chr3:99599800-99600600	Enhancers	Brain Hippocampus Middle	brain
37	chr3:99599800-99600600	Enhancers	Fetal Muscle Leg	muscle
38	chr3:99599800-99600600	Enhancers	Right Atrium	heart
39	chr3:99599800-99600600	Enhancers	Spleen	Spleen
40	chr3:99599800-99601600	Enhancers	Colon Smooth Muscle	Colon
41	chr3:99600000-99600400	Enhancers	Brain Angular Gyrus	brain
42	chr3:99600000-99600400	Weak transcription	Psoas Muscle	Psoas
43	chr3:99600000-99601200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr3:99600200-99600600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:99600200-99600600	Enhancers	Adipose Nuclei	Adipose
46	chr3:99600200-99600600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr3:99600200-99601400	Enhancers	HepG2	liver
48	chr3:99600200-99603200	Enhancers	HUVEC	blood vessel
49	chr3:99600400-99600600	Enhancers	Aorta	Aorta
50	chr3:99600400-99600600	Enhancers	Ovary	ovary

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