Variant report

Variant	nsv822227
Chromosome Location	chr3:119133049-119135021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119132282..119134747-chr3:119135512..119137174,2	MCF-7	breast:
2	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:
3	chr3:119134373..119135878-chr3:119140849..119143747,2	K562	blood:
4	chr3:119133389..119135165-chr3:119214613..119217502,2	K562	blood:
5	chr3:119126605..119128685-chr3:119132241..119134737,2	K562	blood:

Variant related genes	Relation type
ENSG00000272662	chromatin interactions
ENSG00000113845	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201028277	chr3:119133061-119133062	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374149626	chr3:119133088-119133089	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147415811	chr3:119133099-119133100	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183837502	chr3:119133106-119133107	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139659618	chr3:119133120-119133121	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368591462	chr3:119133127-119133128	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186621177	chr3:119133135-119133136	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61746581	chr3:119133140-119133141	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199630136	chr3:119133143-119133144	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3732413	chr3:119133183-119133184	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs34762342	chr3:119133189-119133190	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541827684	chr3:119133225-119133226	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371770771	chr3:119133229-119133230	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560144166	chr3:119133252-119133253	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374932040	chr3:119133261-119133262	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113966268	chr3:119133263-119133264	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201970872	chr3:119133273-119133274	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527295124	chr3:119133288-119133289	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61743043	chr3:119133296-119133297	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199843927	chr3:119133310-119133311	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199821560	chr3:119133314-119133315	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376360791	chr3:119133323-119133324	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147162240	chr3:119133333-119133334	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201206374	chr3:119133345-119133346	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373935539	chr3:119133349-119133350	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377529099	chr3:119133389-119133390	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371290563	chr3:119133420-119133421	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532541102	chr3:119133429-119133430	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140312580	chr3:119133443-119133444	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568994391	chr3:119133447-119133448	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs377513782	chr3:119133469-119133470	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536388425	chr3:119133552-119133553	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs61740281	chr3:119133554-119133555	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201519258	chr3:119133590-119133591	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs367834077	chr3:119133591-119133592	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370101797	chr3:119133620-119133621	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs199928704	chr3:119133624-119133625	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542730808	chr3:119133655-119133656	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200584337	chr3:119133656-119133657	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191861578	chr3:119133715-119133716	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs199937326	chr3:119133732-119133733	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200857263	chr3:119133741-119133742	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs375426216	chr3:119133831-119133832	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372951577	chr3:119133845-119133846	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377221195	chr3:119133848-119133849	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs200102371	chr3:119133849-119133850	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs202018879	chr3:119133852-119133853	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368948086	chr3:119133864-119133865	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201997376	chr3:119133880-119133881	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541865734	chr3:119133995-119133996	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	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
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
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
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
3	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
5	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
7	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
9	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:119102600-119133200	Weak transcription	NHLF	lung
11	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
17	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:119113400-119138000	Strong transcription	Fetal Stomach	stomach
19	chr3:119116600-119133400	Strong transcription	Left Ventricle	heart
20	chr3:119118600-119133200	Weak transcription	Fetal Intestine Large	intestine
21	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:119121400-119135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:119121400-119136000	Weak transcription	Esophagus	oesophagus
25	chr3:119123000-119136200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr3:119124400-119134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:119124600-119135000	Weak transcription	Brain Angular Gyrus	brain
28	chr3:119127000-119135200	Strong transcription	Fetal Muscle Leg	muscle
29	chr3:119127200-119138200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:119127600-119136200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr3:119128000-119135800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr3:119128200-119135000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr3:119128600-119137000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:119129000-119133200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:119129000-119138400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:119129200-119133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:119130000-119135400	Weak transcription	Liver	Liver
38	chr3:119130200-119139200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr3:119130400-119134000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:119130600-119133200	Weak transcription	NH-A	brain
41	chr3:119130600-119137000	Weak transcription	HSMM	muscle
42	chr3:119130600-119137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:119130600-119138400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:119130800-119134200	Weak transcription	HUVEC	blood vessel
45	chr3:119130800-119134400	Weak transcription	Colon Smooth Muscle	Colon
46	chr3:119130800-119143600	Weak transcription	GM12878-XiMat	blood
47	chr3:119132000-119137600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:119132200-119135000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr3:119132200-119135200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:119132200-119136600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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