Variant report

Variant	esv2762185
Chromosome Location	chr1:113346108-113351401
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113258353..113266082-chr1:113344715..113349789,9	MCF-7	breast:
2	chr1:113270002..113271018-chr1:113346519..113347901,8	MCF-7	breast:
3	chr1:113346446..113346980-chr21:29107601..29108558,2	MCF-7	breast:
4	chr1:113350162..113352262-chr1:113614646..113616271,2	MCF-7	breast:
5	chr1:113280037..113281182-chr1:113346502..113347495,4	MCF-7	breast:
6	chr1:113279985..113280850-chr1:113346538..113347427,2	K562	blood:
7	chr1:113256402..113259663-chr1:113350471..113353019,3	K562	blood:
8	chr1:113260993..113261954-chr1:113346492..113347443,7	K562	blood:
9	chr1:113258243..113259603-chr1:113346569..113347471,7	MCF-7	breast:
10	chr1:113260737..113262292-chr1:113346514..113347895,8	MCF-7	breast:
11	chr1:113259850..113261663-chr1:113346224..113348160,2	K562	blood:
12	chr1:113257560..113260668-chr1:113344360..113350242,8	MCF-7	breast:
13	chr1:113258018..113259770-chr1:113346059..113348138,22	K562	blood:
14	chr1:113254388..113257087-chr1:113348498..113350329,2	MCF-7	breast:
15	chr1:113336004..113338638-chr1:113347220..113350748,3	K562	blood:
16	chr1:113346242..113347922-chr1:113394008..113395856,2	MCF-7	breast:
17	chr1:113269314..113271900-chr1:113344894..113347076,3	MCF-7	breast:
18	chr1:113262194..113266688-chr1:113347880..113352224,5	MCF-7	breast:
19	chr1:113257528..113259830-chr1:113345553..113348526,2	K562	blood:
20	chr1:113261041..113262045-chr1:113346518..113347739,14	MCF-7	breast:
21	chr1:113261035..113261874-chr1:113348328..113348915,2	MCF-7	breast:
22	chr1:113258153..113259710-chr1:113345919..113347682,21	MCF-7	breast:
23	chr1:113344825..113346941-chr1:113614916..113616436,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238198	chromatin interactions
ENSG00000261595	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000184599	chromatin interactions
ENSG00000155367	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7535706	chr1:113346108-113346109	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11376070	chr1:113346114-113346115	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs77379312	chr1:113346128-113346129	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs181681076	chr1:113346140-113346141	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs115784321	chr1:113346141-113346142	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs186067441	chr1:113346165-113346166	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs190489569	chr1:113346171-113346172	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs574410118	chr1:113346204-113346205	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs542975278	chr1:113346234-113346235	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs183388687	chr1:113346235-113346236	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs528516559	chr1:113346240-113346241	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs375058455	chr1:113346250-113346251	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs551581516	chr1:113346284-113346285	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs565419351	chr1:113346291-113346292	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs367974083	chr1:113346315-113346316	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs532371030	chr1:113346316-113346317	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs550604025	chr1:113346317-113346318	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs530578309	chr1:113346346-113346347	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs6697200	chr1:113346356-113346357	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34251186	chr1:113346358-113346359	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs567193732	chr1:113346418-113346419	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs188671760	chr1:113346459-113346460	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs191095290	chr1:113346483-113346484	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs566320872	chr1:113346500-113346501	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs182517726	chr1:113346503-113346504	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs558357484	chr1:113346513-113346514	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs530858123	chr1:113346530-113346531	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs537616858	chr1:113346547-113346548	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs557605795	chr1:113346557-113346558	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs574321367	chr1:113346619-113346620	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs116241647	chr1:113346648-113346649	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs79440565	chr1:113346663-113346664	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs188375804	chr1:113346680-113346681	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs530156156	chr1:113346701-113346702	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs564991041	chr1:113346805-113346806	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs570671852	chr1:113346820-113346821	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs11800457	chr1:113346821-113346822	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs191669961	chr1:113346841-113346842	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs560732568	chr1:113346948-113346949	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs11102543	chr1:113346966-113346967	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372756067	chr1:113346969-113346970	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs546573169	chr1:113346979-113346980	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs75510056	chr1:113346985-113346986	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs4364881	chr1:113346993-113346994	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531969679	chr1:113346994-113346995	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs373486872	chr1:113347003-113347004	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs142845088	chr1:113347051-113347052	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs111549311	chr1:113347057-113347058	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs568942073	chr1:113347162-113347163	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs537925282	chr1:113347182-113347183	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Ovarian cancer	21720365	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
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113325600-113350800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:113335400-113349800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113337200-113351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:113337600-113350000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:113337800-113346600	Weak transcription	K562	blood
6	chr1:113338800-113349000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:113341000-113346400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:113342000-113361800	Weak transcription	Right Atrium	heart
9	chr1:113344600-113346600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:113345200-113347400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:113346400-113347200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:113346400-113347200	Enhancers	Fetal Intestine Small	intestine
13	chr1:113346400-113347200	Enhancers	Stomach Mucosa	stomach
14	chr1:113346400-113347400	Enhancers	HepG2	liver
15	chr1:113346400-113347600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:113346400-113349000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:113346600-113346800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:113346600-113347000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:113346600-113347000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:113346600-113347000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:113346600-113347000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:113346600-113347000	Enhancers	K562	blood
23	chr1:113346600-113347200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:113346600-113347200	Enhancers	Liver	Liver
25	chr1:113346600-113347200	Enhancers	Fetal Intestine Large	intestine
26	chr1:113346600-113348000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:113346800-113347000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:113346800-113347400	Enhancers	Fetal Muscle Leg	muscle
29	chr1:113346800-113347400	Enhancers	Pancreas	Pancrea
30	chr1:113346800-113348800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:113346800-113349800	Weak transcription	Fetal Lung	lung
32	chr1:113347000-113347600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:113347000-113348000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:113347000-113348200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:113347000-113349000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:113347000-113349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:113347000-113350000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:113347000-113350000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:113347000-113352200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:113347200-113347600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:113347200-113347600	Weak transcription	Liver	Liver
42	chr1:113347200-113349200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:113347200-113351600	Weak transcription	Stomach Mucosa	stomach
44	chr1:113347400-113347600	Enhancers	Placenta	Placenta
45	chr1:113347400-113347600	Flanking Active TSS	HepG2	liver
46	chr1:113347400-113347800	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:113347400-113347800	Weak transcription	Pancreas	Pancrea
48	chr1:113347400-113348200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:113347400-113349000	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:113347600-113347800	Enhancers	H1 Cell Line	embryonic stem cell

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