Variant report

Variant	nsv590271
Chromosome Location	chr3:50420554-50436716
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50433810..50435644-chr3:50457889..50460766,2	K562	blood:
2	chr3:50423026..50425468-chr3:50433598..50435342,2	K562	blood:
3	chr3:50384426..50385342-chr3:50425519..50426240,3	MCF-7	breast:
4	chr3:50392667..50394424-chr3:50425965..50428609,2	MCF-7	breast:
5	chr3:50407737..50410112-chr3:50424315..50425913,2	K562	blood:
6	chr3:50432433..50434398-chr3:50436180..50438200,2	K562	blood:
7	chr3:50420263..50421916-chr3:50428504..50431466,2	K562	blood:
8	chr3:50432433..50434398-chr3:50436180..50438200,2	K562	blood:
9	chr3:50430686..50433104-chr3:50437469..50439018,2	MCF-7	breast:
10	chr3:50382316..50385000-chr3:50428533..50431219,2	K562	blood:
11	chr3:50403729..50405673-chr3:50419151..50420846,2	MCF-7	breast:
12	chr3:50432925..50435019-chr3:50624973..50626614,2	MCF-7	breast:
13	chr3:50398149..50400701-chr3:50422132..50425114,2	MCF-7	breast:
14	chr3:50420710..50423893-chr3:50432080..50434789,3	MCF-7	breast:
15	chr3:50415673..50418244-chr3:50436482..50438433,2	K562	blood:
16	chr3:50374030..50376219-chr3:50433373..50435985,2	MCF-7	breast:
17	chr3:50419009..50422090-chr3:50424618..50428241,4	MCF-7	breast:
18	chr3:50423026..50425468-chr3:50433598..50435342,2	K562	blood:
19	chr3:50420263..50421916-chr3:50428504..50431466,2	K562	blood:
20	chr3:50402953..50405922-chr3:50425118..50426805,2	MCF-7	breast:
21	chr3:50434095..50435683-chr3:50439071..50441884,2	K562	blood:
22	chr3:50419009..50422090-chr3:50424618..50428241,4	MCF-7	breast:
23	chr3:50401924..50404224-chr3:50431780..50433415,2	MCF-7	breast:
24	chr3:50420710..50423893-chr3:50432080..50434789,3	MCF-7	breast:
25	chr3:50335068..50338048-chr3:50427716..50429886,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000004838	chromatin interactions
ENSG00000068028	chromatin interactions
ENSG00000271858	chromatin interactions
ENSG00000007402	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000243477	chromatin interactions

Extended variants
information (count: 582 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2236950	chr3:50420554-50420555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs587620432	chr3:50420564-50420565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374761872	chr3:50420583-50420584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587702232	chr3:50420623-50420624	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587759827	chr3:50420636-50420637	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35293993	chr3:50420648-50420649	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs587658971	chr3:50420658-50420659	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs587712998	chr3:50420709-50420710	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs587756667	chr3:50420762-50420763	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368808699	chr3:50420763-50420764	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113878331	chr3:50420780-50420781	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587594885	chr3:50420796-50420797	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs587693102	chr3:50420823-50420824	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72934830	chr3:50420889-50420890	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs587627238	chr3:50420909-50420910	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370464964	chr3:50420974-50420975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587725308	chr3:50421000-50421001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587655682	chr3:50421036-50421037	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587733080	chr3:50421066-50421067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587622960	chr3:50421078-50421079	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2236951	chr3:50421081-50421082	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs587748972	chr3:50421250-50421251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587622394	chr3:50421252-50421253	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587704198	chr3:50421333-50421334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587761790	chr3:50421338-50421339	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142668027	chr3:50421360-50421361	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587674690	chr3:50421380-50421381	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192866954	chr3:50421393-50421394	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184532935	chr3:50421452-50421453	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150594373	chr3:50421488-50421489	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371427872	chr3:50421617-50421618	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587771507	chr3:50421648-50421649	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374669124	chr3:50421657-50421658	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199903642	chr3:50421663-50421664	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138163756	chr3:50421664-50421665	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587652758	chr3:50421666-50421667	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189497444	chr3:50421672-50421673	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587610576	chr3:50421702-50421703	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148615584	chr3:50421715-50421716	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587661537	chr3:50421718-50421719	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368540577	chr3:50421726-50421727	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201120554	chr3:50421729-50421730	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142099149	chr3:50421734-50421735	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372100606	chr3:50421751-50421752	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587747104	chr3:50421756-50421757	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202245003	chr3:50421766-50421767	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199890063	chr3:50421785-50421786	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375070100	chr3:50421788-50421789	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373703588	chr3:50421912-50421913	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587604837	chr3:50421941-50421942	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50408800-50423800	Weak transcription	Fetal Brain Female	brain
2	chr3:50411400-50422600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:50411400-50430000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:50412800-50428000	Weak transcription	Right Ventricle	heart
5	chr3:50413200-50421000	Weak transcription	Lung	lung
6	chr3:50414000-50420600	Weak transcription	Fetal Intestine Small	intestine
7	chr3:50415200-50428400	Weak transcription	Brain Anterior Caudate	brain
8	chr3:50416000-50421200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:50416800-50420600	Enhancers	Brain Germinal Matrix	brain
10	chr3:50417000-50428000	Weak transcription	Gastric	stomach
11	chr3:50417600-50421400	Enhancers	Fetal Muscle Leg	muscle
12	chr3:50418200-50421600	Enhancers	Fetal Muscle Trunk	muscle
13	chr3:50418800-50420600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:50419200-50421400	Enhancers	Fetal Kidney	kidney
15	chr3:50419400-50421000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:50419600-50420600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:50419600-50420600	Enhancers	Fetal Stomach	stomach
18	chr3:50419600-50420800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:50419600-50420800	Enhancers	Ovary	ovary
20	chr3:50419600-50421600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:50419600-50426200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:50419800-50421000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:50420000-50420600	Enhancers	Fetal Brain Male	brain
24	chr3:50420000-50421400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:50420200-50421800	Enhancers	Spleen	Spleen
26	chr3:50420200-50422400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr3:50420200-50423000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:50420400-50421200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:50420400-50422200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:50420400-50423600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:50420600-50421000	Weak transcription	Brain Germinal Matrix	brain
32	chr3:50420600-50421600	Strong transcription	Fetal Intestine Small	intestine
33	chr3:50420600-50422200	Weak transcription	Fetal Stomach	stomach
34	chr3:50420600-50422600	Weak transcription	Fetal Brain Male	brain
35	chr3:50420600-50425200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:50420800-50421200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:50421000-50421200	Enhancers	Brain Germinal Matrix	brain
38	chr3:50421000-50421400	Enhancers	Esophagus	oesophagus
39	chr3:50421000-50421800	Enhancers	NHEK	skin
40	chr3:50421000-50422200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:50421000-50422600	Strong transcription	Lung	lung
42	chr3:50421200-50421600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:50421200-50421800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:50421200-50421800	Weak transcription	Brain Germinal Matrix	brain
45	chr3:50421200-50421800	Enhancers	HMEC	breast
46	chr3:50421400-50421600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:50421400-50421800	Genic enhancers	Fetal Muscle Leg	muscle
48	chr3:50421400-50428000	Weak transcription	Esophagus	oesophagus
49	chr3:50421600-50422600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:50421600-50423000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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