Variant report

Variant	nsv4181
Chromosome Location	chr3:195171990-195216923
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195167880..195169802-chr3:195172457..195174752,3	K562	blood:
2	chr3:195058126..195060411-chr3:195174177..195176241,2	K562	blood:
3	chr3:195162020..195165766-chr3:195166533..195172631,9	MCF-7	breast:
4	chr3:195187214..195189677-chr3:195190793..195193536,2	K562	blood:
5	chr3:195164614..195167496-chr3:195169106..195172382,4	K562	blood:
6	chr3:195163224..195165048-chr3:195171324..195173163,2	MCF-7	breast:
7	chr3:195167466..195170078-chr3:195181038..195183808,2	MCF-7	breast:
8	chr3:195046493..195048154-chr3:195172456..195175252,2	K562	blood:
9	chr3:195167880..195169802-chr3:195171668..195174752,4	K562	blood:
10	chr3:195161787..195165604-chr3:195180533..195183968,4	K562	blood:
11	chr3:195161410..195164177-chr3:195169867..195173510,4	K562	blood:
12	chr3:195184041..195186237-chr3:195187237..195189393,3	K562	blood:
13	chr3:195187214..195189677-chr3:195190793..195193536,2	K562	blood:
14	chr3:195162210..195166416-chr3:195174228..195177159,5	K562	blood:
15	chr3:195184041..195186237-chr3:195187237..195189393,3	K562	blood:
16	chr3:195161338..195166819-chr3:195177986..195183968,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-1	chr3:195204068-195204142	refGeneNc_4303_NR_033944

No data

Variant related genes	Relation type
ENSG00000114331	chromatin interactions

Extended variants
information (count: 1100 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567971066	chr3:195172003-195172004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528761422	chr3:195172124-195172125	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572332233	chr3:195172137-195172138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185640046	chr3:195172258-195172259	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536555584	chr3:195172269-195172270	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76481772	chr3:195172292-195172293	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539587891	chr3:195172302-195172303	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557825195	chr3:195172305-195172306	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189325380	chr3:195172314-195172315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376366580	chr3:195172333-195172334	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537051539	chr3:195172408-195172409	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555032906	chr3:195172422-195172423	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573611909	chr3:195172440-195172441	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373524415	chr3:195172501-195172502	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534585497	chr3:195172539-195172540	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150111903	chr3:195172588-195172589	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576321906	chr3:195172603-195172604	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549611509	chr3:195172630-195172631	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543883487	chr3:195172690-195172691	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145838178	chr3:195172691-195172692	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575622846	chr3:195172693-195172694	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141702378	chr3:195172717-195172718	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567963030	chr3:195172761-195172762	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538497368	chr3:195172782-195172783	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547309082	chr3:195172786-195172787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565518256	chr3:195172792-195172793	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532762857	chr3:195172794-195172795	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550844915	chr3:195172796-195172797	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74432004	chr3:195172834-195172835	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536711363	chr3:195172896-195172897	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575281901	chr3:195172922-195172923	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548995774	chr3:195172968-195172969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566921374	chr3:195172994-195172995	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375920911	chr3:195173021-195173022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs75146541	chr3:195173046-195173047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181876420	chr3:195173087-195173088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541025797	chr3:195173102-195173103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562765739	chr3:195173105-195173106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138518802	chr3:195173147-195173148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542734681	chr3:195173210-195173211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561311390	chr3:195173235-195173236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200126445	chr3:195173289-195173290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200996824	chr3:195173290-195173291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573263161	chr3:195173302-195173303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540589089	chr3:195173343-195173344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9849468	chr3:195173414-195173415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530300051	chr3:195173429-195173430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143251625	chr3:195173440-195173441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562923721	chr3:195173462-195173463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563523429	chr3:195173533-195173534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195166600-195172600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:195167400-195172200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:195169400-195173800	Weak transcription	K562	blood
4	chr3:195170400-195174200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:195171000-195172000	Enhancers	Fetal Muscle Leg	muscle
6	chr3:195171000-195172200	Enhancers	Adipose Nuclei	Adipose
7	chr3:195171000-195172200	Enhancers	Fetal Lung	lung
8	chr3:195171000-195172200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr3:195171000-195172200	Enhancers	NHLF	lung
10	chr3:195171000-195172400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:195171000-195172600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:195171000-195172600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:195171000-195172600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:195171000-195172600	Enhancers	Right Atrium	heart
15	chr3:195171200-195172000	Enhancers	Fetal Kidney	kidney
16	chr3:195171200-195172400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:195171200-195172400	Enhancers	Fetal Stomach	stomach
18	chr3:195171200-195172400	Enhancers	HSMMtube	muscle
19	chr3:195171200-195173000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:195171200-195180400	Weak transcription	Ovary	ovary
21	chr3:195171400-195172000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:195171400-195172000	Enhancers	Psoas Muscle	Psoas
23	chr3:195171400-195172000	Enhancers	HepG2	liver
24	chr3:195171400-195172200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr3:195171400-195172200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:195171400-195172200	Enhancers	HSMM	muscle
27	chr3:195171400-195172600	Enhancers	Placenta	Placenta
28	chr3:195171600-195172000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:195171600-195172000	Enhancers	Osteobl	bone
30	chr3:195171600-195172400	Enhancers	Esophagus	oesophagus
31	chr3:195171600-195172400	Enhancers	Lung	lung
32	chr3:195171600-195173000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:195171800-195172000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr3:195171800-195172000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:195171800-195172200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:195171800-195172200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:195171800-195172400	Enhancers	Primary B cells from cord blood	blood
38	chr3:195171800-195172600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr3:195172000-195172200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:195172000-195172400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:195172000-195182400	Weak transcription	Psoas Muscle	Psoas
42	chr3:195172200-195172600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr3:195172200-195172600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:195172200-195172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:195172200-195172600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:195172200-195174000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr3:195172400-195172600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:195172400-195172800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:195172400-195173400	Weak transcription	Esophagus	oesophagus
50	chr3:195172400-195174400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links