Variant report

Variant	nsv593085
Chromosome Location	chr3:196061833-196063923
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196012776..196015922-chr3:196063347..196066816,3	MCF-7	breast:
2	chr3:196012576..196016636-chr3:196061383..196069148,11	K562	blood:
3	chr3:196062616..196065996-chr3:196228027..196230994,3	K562	blood:
4	chr3:196043015..196046706-chr3:196061951..196066451,7	K562	blood:
5	chr3:196062380..196065036-chr3:196160453..196162910,2	MCF-7	breast:
6	chr3:196050651..196052787-chr3:196063529..196066112,3	K562	blood:
7	chr3:196012352..196016755-chr3:196062622..196069148,9	K562	blood:
8	chr3:196062836..196066201-chr3:196157853..196162484,6	K562	blood:
9	chr3:196013231..196016156-chr3:196060060..196062117,2	MCF-7	breast:
10	chr3:196043015..196047197-chr3:196061951..196068288,11	K562	blood:
11	chr3:196057685..196059203-chr3:196062080..196064140,2	MCF-7	breast:
12	chr3:196014212..196016306-chr3:196062015..196064940,3	MCF-7	breast:
13	chr3:196062778..196068235-chr3:196157235..196160927,9	K562	blood:
14	chr3:195807059..195809798-chr3:196063350..196066594,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072274	chromatin interactions
ENSG00000235897	chromatin interactions
ENSG00000163961	chromatin interactions
ENSG00000145107	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000225822	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000163960	chromatin interactions
ENSG00000272741	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34364744	chr3:196061834-196061835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs66476561	chr3:196061836-196061837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372353665	chr3:196061837-196061838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187330884	chr3:196061876-196061877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527968539	chr3:196061886-196061887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs66558121	chr3:196061907-196061908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370052146	chr3:196061929-196061930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190199176	chr3:196061947-196061948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552458565	chr3:196061955-196061956	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs9846735	chr3:196061961-196061962	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs372716115	chr3:196062000-196062001	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs537884363	chr3:196062005-196062006	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs183796510	chr3:196062017-196062018	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs115569604	chr3:196062031-196062032	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs538068136	chr3:196062081-196062082	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs550145013	chr3:196062094-196062095	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs188297298	chr3:196062237-196062238	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs571484999	chr3:196062260-196062261	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs13063839	chr3:196062356-196062357	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs568521397	chr3:196062388-196062389	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs535623232	chr3:196062400-196062401	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs554129260	chr3:196062404-196062405	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs11922994	chr3:196062408-196062409	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs66655835	chr3:196062440-196062441	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs558914182	chr3:196062451-196062452	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs375397169	chr3:196062464-196062465	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs377549643	chr3:196062474-196062475	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs193057880	chr3:196062477-196062478	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs11926075	chr3:196062518-196062519	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs562569445	chr3:196062568-196062569	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs574471152	chr3:196062649-196062650	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs541599578	chr3:196062667-196062668	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs559676786	chr3:196062685-196062686	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs149169366	chr3:196062757-196062758	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs572215409	chr3:196062775-196062776	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs55739218	chr3:196062782-196062783	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs554690974	chr3:196062792-196062793	Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs185626360	chr3:196062802-196062803	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs66522650	chr3:196062810-196062811	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529349870	chr3:196062814-196062815	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs187583891	chr3:196062824-196062825	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs566052426	chr3:196062891-196062892	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs539856825	chr3:196062961-196062962	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs145342965	chr3:196062983-196062984	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs543448566	chr3:196062986-196062987	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs58756050	chr3:196062991-196062992	Weak transcription Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs528556680	chr3:196063016-196063017	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs145041162	chr3:196063043-196063044	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs146494729	chr3:196063096-196063097	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs532668879	chr3:196063157-196063158	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196047600-196063600	Weak transcription	NHEK	skin
2	chr3:196051400-196063600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:196052000-196062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:196054800-196064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:196057800-196062600	Weak transcription	Hela-S3	cervix
7	chr3:196060200-196062600	Weak transcription	Esophagus	oesophagus
8	chr3:196061200-196062400	Weak transcription	K562	blood
9	chr3:196061800-196063000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:196062400-196062800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:196062400-196063000	Active TSS	HepG2	liver
12	chr3:196062400-196063200	Enhancers	K562	blood
13	chr3:196062400-196063400	Enhancers	HMEC	breast
14	chr3:196062600-196062800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:196062600-196062800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:196062600-196063000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:196062600-196063000	Enhancers	Pancreas	Pancrea
18	chr3:196062600-196063000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr3:196062600-196063200	Enhancers	Esophagus	oesophagus
20	chr3:196062600-196063400	Enhancers	Hela-S3	cervix
21	chr3:196062600-196063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:196062600-196064200	Enhancers	A549	lung
23	chr3:196062600-196065000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:196062800-196064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:196062800-196064400	Enhancers	Fetal Muscle Leg	muscle
26	chr3:196062800-196075000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:196063000-196063800	Enhancers	HepG2	liver
28	chr3:196063000-196064000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:196063000-196064800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:196063200-196063600	Weak transcription	Esophagus	oesophagus
31	chr3:196063200-196063800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:196063200-196064000	Flanking Active TSS	K562	blood
33	chr3:196063200-196065600	Enhancers	HSMMtube	muscle
34	chr3:196063400-196063800	Flanking Active TSS	Hela-S3	cervix
35	chr3:196063400-196063800	Enhancers	HSMM	muscle
36	chr3:196063400-196064400	Weak transcription	HMEC	breast
37	chr3:196063600-196063800	Enhancers	Esophagus	oesophagus
38	chr3:196063600-196064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:196063600-196064400	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr3:196063600-196064400	Enhancers	NHEK	skin
41	chr3:196063800-196064200	Weak transcription	HepG2	liver
42	chr3:196063800-196064400	Enhancers	Hela-S3	cervix
43	chr3:196063800-196064800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:196063800-196064800	Weak transcription	HSMM	muscle
45	chr3:196063800-196065000	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links