Variant report

Variant	nsv1009018
Chromosome Location	chr3:143797683-143868350
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143851188..143852094-chr3:143864087..143864848,2	MCF-7	breast:
2	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:
3	chr3:143862145..143864475-chr3:143867360..143869304,2	K562	blood:
4	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:
5	chr3:143690118..143691701-chr3:143832544..143834145,2	K562	blood:
6	chr3:143852522..143854486-chr3:143858842..143860873,2	K562	blood:
7	chr3:143693440..143695168-chr3:143824981..143826507,2	K562	blood:
8	chr3:143797616..143799320-chr3:143802598..143805481,2	MCF-7	breast:
9	chr3:143802113..143803732-chr3:143807237..143809098,2	K562	blood:
10	chr3:143796834..143798439-chr3:143800651..143803493,2	MCF-7	breast:
11	chr3:143849261..143851661-chr3:143853910..143857233,3	K562	blood:
12	chr3:143852522..143854486-chr3:143858842..143860873,2	K562	blood:
13	chr3:143862145..143864475-chr3:143867360..143869304,2	K562	blood:
14	chr3:143852522..143855348-chr3:143858842..143861138,3	K562	blood:
15	chr3:143852522..143855348-chr3:143858842..143861138,3	K562	blood:
16	chr3:143804757..143807049-chr3:143809436..143811343,2	MCF-7	breast:
17	chr3:143690019..143692645-chr3:143838592..143840602,2	MCF-7	breast:
18	chr3:143802113..143803732-chr3:143807237..143809098,2	K562	blood:
19	chr3:143849261..143851661-chr3:143853910..143857233,3	K562	blood:
20	chr3:61879348..61880969-chr3:143831622..143834006,2	MCF-7	breast:
21	chr3:143797616..143799320-chr3:143802598..143805481,2	MCF-7	breast:
22	chr3:143851188..143852094-chr3:143864087..143864848,2	MCF-7	breast:
23	chr3:143796834..143798439-chr3:143800651..143803493,2	MCF-7	breast:
24	chr3:143865202..143867000-chr3:143870211..143871810,2	K562	blood:
25	chr3:143804757..143807049-chr3:143809436..143811343,2	MCF-7	breast:
26	chr3:143689363..143691415-chr3:143803802..143806594,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 2142 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2142 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539123830	chr3:143803856-143803857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142316572	chr3:143803875-143803876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565478166	chr3:143803889-143803890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575847819	chr3:143803926-143803927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs993565	chr3:143804021-143804022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6804060	chr3:143804040-143804041	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532379916	chr3:143804070-143804071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550490122	chr3:143804117-143804118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573845569	chr3:143804135-143804136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542257239	chr3:143804137-143804138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544543200	chr3:143804140-143804141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560267023	chr3:143804144-143804145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117606195	chr3:143804172-143804173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150879189	chr3:143804242-143804243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189777401	chr3:143804252-143804253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531942191	chr3:143804266-143804267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562834160	chr3:143804295-143804296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181326262	chr3:143804391-143804392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs377597487	chr3:143804415-143804416	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377352807	chr3:143804426-143804427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562442534	chr3:143804428-143804429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529556274	chr3:143804468-143804469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376832308	chr3:143804471-143804472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565523467	chr3:143804497-143804498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551115867	chr3:143804508-143804509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370680221	chr3:143804529-143804530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs369720376	chr3:143804532-143804533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs202156255	chr3:143804567-143804568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551082516	chr3:143804576-143804577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569371881	chr3:143804617-143804618	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375464806	chr3:143804657-143804658	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529923341	chr3:143804678-143804679	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536887222	chr3:143804695-143804696	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77646340	chr3:143804719-143804720	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567580926	chr3:143804741-143804742	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185963146	chr3:143804776-143804777	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553200373	chr3:143804838-143804839	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139658014	chr3:143804853-143804854	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546176081	chr3:143804862-143804863	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144391592	chr3:143804872-143804873	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576599921	chr3:143804921-143804922	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548162106	chr3:143804925-143804926	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114720995	chr3:143804946-143804947	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190828591	chr3:143805011-143805012	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529624542	chr3:143805045-143805046	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146649834	chr3:143805119-143805120	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183020413	chr3:143805235-143805236	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532774285	chr3:143805245-143805246	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530421447	chr3:143805279-143805280	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186252393	chr3:143805289-143805290	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143804600-143805400	Enhancers	NHEK	skin
2	chr3:143804800-143805200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:143806200-143806400	ZNF genes & repeats	Pancreas	Pancrea
4	chr3:143809600-143821200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:143814200-143814400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:143814400-143814600	Enhancers	Aorta	Aorta
7	chr3:143814400-143817000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:143814400-143818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:143814600-143815000	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:143814600-143817600	Weak transcription	Aorta	Aorta
11	chr3:143814800-143815600	Enhancers	Brain Anterior Caudate	brain
12	chr3:143815000-143816200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:143815000-143816800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:143815400-143816800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:143815400-143816800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:143815600-143816000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:143815600-143816600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:143815600-143816800	Enhancers	Brain Hippocampus Middle	brain
19	chr3:143815800-143816000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:143815800-143816200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:143815800-143816400	Enhancers	Esophagus	oesophagus
22	chr3:143815800-143816800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:143815800-143817000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:143816000-143818000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:143816000-143818000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:143816200-143816400	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:143816400-143817600	Weak transcription	Esophagus	oesophagus
28	chr3:143816600-143816800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:143816800-143817600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:143816800-143817600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:143817600-143817800	Enhancers	Esophagus	oesophagus
32	chr3:143817600-143819200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:143817600-143819200	ZNF genes & repeats	Aorta	Aorta
34	chr3:143817600-143819400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:143817600-143819800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:143817800-143818000	Weak transcription	Esophagus	oesophagus
37	chr3:143818000-143819000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
38	chr3:143818000-143819200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
39	chr3:143818200-143819200	ZNF genes & repeats	Pancreas	Pancrea
40	chr3:143818400-143819000	ZNF genes & repeats	Liver	Liver
41	chr3:143818600-143819200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:143818600-143824000	Weak transcription	Ovary	ovary
43	chr3:143818800-143819000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:143819000-143821000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:143819000-143823000	Weak transcription	Liver	Liver
46	chr3:143819200-143823000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:143819200-143823000	Weak transcription	Aorta	Aorta
48	chr3:143819200-143824400	Weak transcription	Pancreas	Pancrea
49	chr3:143819400-143821200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:143819800-143821600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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