Variant report

Variant	nsv1004804
Chromosome Location	chr1:118975209-119048663
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:118977262..118979254-chr1:118983674..118987440,3	K562	blood:
2	chr1:119042805..119045350-chr1:119050296..119052660,2	MCF-7	breast:
3	chr1:119029137..119029961-chr4:130198941..130199727,2	MCF-7	breast:
4	chr1:118989107..118990022-chr20:53475138..53475899,2	MCF-7	breast:
5	chr1:119024221..119026264-chr1:119682638..119684716,2	MCF-7	breast:
6	chr1:118977262..118979254-chr1:118983674..118987440,3	K562	blood:
7	chr1:118984004..118986718-chr1:119008143..119011003,2	K562	blood:
8	chr1:119013645..119016477-chr1:119021978..119024447,3	MCF-7	breast:
9	chr1:119013645..119016477-chr1:119021978..119024447,3	MCF-7	breast:
10	chr1:119023448..119025739-chr1:119456881..119458655,2	MCF-7	breast:
11	chr1:118984004..118986718-chr1:119008143..119011003,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231365	chromatin interactions
ENSG00000116874	chromatin interactions

Extended variants
information (count: 1248 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1248 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575947434	chr1:118991209-118991210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575027398	chr1:118991245-118991246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs541468718	chr1:118991311-118991312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs142165858	chr1:118991399-118991400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs79139756	chr1:118991478-118991479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76070636	chr1:118991492-118991493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189884746	chr1:118991504-118991505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs199583282	chr1:118991521-118991522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528313104	chr1:118991562-118991563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546746501	chr1:118991565-118991566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116740217	chr1:118991566-118991567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12759555	chr1:118991567-118991568	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181092722	chr1:118991629-118991630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569742540	chr1:118991639-118991640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537032280	chr1:118991640-118991641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12759708	chr1:118991669-118991670	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185405122	chr1:118991676-118991677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs373344508	chr1:118991695-118991696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569420966	chr1:118991713-118991714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144750003	chr1:118991717-118991718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372407928	chr1:118991747-118991748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147899131	chr1:118991748-118991749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141558004	chr1:118991767-118991768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575348378	chr1:118991778-118991779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554673804	chr1:118991807-118991808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545783276	chr1:118991808-118991809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564194360	chr1:118991829-118991830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs548388466	chr1:118991861-118991862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs143639232	chr1:118991905-118991906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs11800997	chr1:118991927-118991928	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189717661	chr1:118991967-118991968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs183528039	chr1:118991968-118991969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs73009265	chr1:118991975-118991976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187287556	chr1:118991991-118991992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148167289	chr1:118992012-118992013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537067286	chr1:118992013-118992014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141075263	chr1:118992014-118992015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570619371	chr1:118992019-118992020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535158125	chr1:118992049-118992050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553185258	chr1:118992060-118992061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540592198	chr1:118992085-118992086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2753396	chr1:118992147-118992148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114924281	chr1:118992165-118992166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557705825	chr1:118992183-118992184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74637292	chr1:118992199-118992200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115420108	chr1:118992219-118992220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191785879	chr1:118992240-118992241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572866867	chr1:118992308-118992309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565543535	chr1:118992353-118992354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183638401	chr1:118992374-118992375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:118991200-118992000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:118992000-118997800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:118997800-118998000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:118998000-119004200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:119002400-119003200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr1:119002600-119003000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr1:119003000-119003800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:119003200-119003600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:119003600-119003800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:119003800-119004200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:119003800-119004200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:119004200-119005000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:119005000-119007200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:119012000-119012400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:119012000-119012600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:119012000-119012600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:119025400-119025600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:119025400-119025800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:119025400-119025800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:119025400-119025800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:119025600-119025800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:119025600-119026600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:119025600-119026800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:119025800-119026000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:119025800-119026200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:119025800-119026600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:119025800-119026600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:119025800-119026600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:119025800-119026800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:119026000-119026200	Enhancers	HMEC	breast
31	chr1:119026000-119026600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:119026000-119026600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:119026000-119026600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:119026000-119026600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:119026000-119026600	Enhancers	Placenta	Placenta
36	chr1:119026000-119026600	Enhancers	NHEK	skin
37	chr1:119026000-119026800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:119026000-119026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:119026000-119027000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:119026200-119026600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:119026400-119026600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:119026600-119027200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:119026600-119027600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:119026600-119027600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:119026600-119027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:119026600-119028000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:119026600-119028200	Weak transcription	NHEK	skin
48	chr1:119026600-119028400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:119026600-119028400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:119026800-119027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links