Variant report

Variant	nsv871558
Chromosome Location	chr1:94544276-94576968
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:35)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94573501..94575707-chr1:94575840..94578707,2	MCF-7	breast:
2	chr1:94565667..94567409-chr1:94572169..94573688,2	MCF-7	breast:
3	chr1:94569570..94572395-chr1:94575385..94578285,2	MCF-7	breast:
4	chr1:94570362..94572497-chr1:94572794..94574672,2	MCF-7	breast:
5	chr1:94573713..94576246-chr1:94579221..94581547,2	MCF-7	breast:
6	chr1:94567418..94570803-chr1:94581520..94584135,4	MCF-7	breast:
7	chr1:94565431..94568158-chr1:94701481..94704374,2	MCF-7	breast:
8	chr1:94565667..94567409-chr1:94572169..94573688,2	MCF-7	breast:
9	chr1:94548149..94550772-chr1:94556316..94558558,2	K562	blood:
10	chr1:94570013..94571668-chr1:94572393..94574114,2	MCF-7	breast:
11	chr1:94571469..94574892-chr1:94577789..94583222,4	K562	blood:
12	chr1:94541971..94545495-chr1:94547470..94549927,3	MCF-7	breast:
13	chr1:94533904..94535691-chr1:94564792..94567232,2	MCF-7	breast:
14	chr1:94560214..94561880-chr1:94564179..94567111,2	MCF-7	breast:
15	chr1:94569570..94572395-chr1:94575385..94578285,2	MCF-7	breast:
16	chr1:94569733..94572105-chr1:94572652..94574259,3	K562	blood:
17	chr1:94564366..94567195-chr1:94607779..94609670,2	MCF-7	breast:
18	chr1:94569733..94572105-chr1:94572652..94574259,3	K562	blood:
19	chr1:94532586..94535624-chr1:94566931..94569461,4	MCF-7	breast:
20	chr1:94556014..94558247-chr1:94558375..94560976,2	MCF-7	breast:
21	chr1:94570362..94572497-chr1:94572794..94574672,2	MCF-7	breast:
22	chr1:94528533..94530442-chr1:94567755..94569846,3	MCF-7	breast:
23	chr1:94546449..94548986-chr1:94550186..94552023,2	K562	blood:
24	chr1:94567017..94567580-chr1:94583611..94584143,2	MCF-7	breast:
25	chr1:94541971..94545495-chr1:94547470..94549927,3	MCF-7	breast:
26	chr1:94573941..94577939-chr1:94585857..94589392,3	K562	blood:
27	chr1:94561960..94563528-chr1:94582281..94584718,2	MCF-7	breast:
28	chr1:94573501..94575707-chr1:94575840..94578707,2	MCF-7	breast:
29	chr1:94556014..94558247-chr1:94558375..94560976,2	MCF-7	breast:
30	chr1:61547567..61548283-chr1:94576374..94576896,2	MCF-7	breast:
31	chr1:94570013..94571668-chr1:94572393..94574114,2	MCF-7	breast:
32	chr1:94560214..94561880-chr1:94564179..94567111,2	MCF-7	breast:
33	chr1:94548149..94550772-chr1:94556316..94558558,2	K562	blood:
34	chr1:94564934..94567258-chr1:94582385..94584556,2	MCF-7	breast:
35	chr1:94546449..94548986-chr1:94550186..94552023,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP29-3	chr1:94562551-94562713	NONHSAT004569
2	lnc-ABCD3-7	chr1:94571411-94571553	NONHSAT004570
3	lnc-ARHGAP29-3	chr1:94556623-94557051	NONHSAT004569
4	lnc-ABCD3-7	chr1:94572656-94572992	NONHSAT004570

No data

Variant related genes	Relation type
ENSG00000137962	chromatin interactions
ENSG00000198691	chromatin interactions
ENSG00000162599	chromatin interactions

Extended variants
information (count: 1434 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1434 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4147830	chr1:94544276-94544277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201677120	chr1:94544291-94544292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115959521	chr1:94544294-94544295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369227849	chr1:94544305-94544306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200852134	chr1:94544325-94544326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78893999	chr1:94544327-94544328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200279466	chr1:94544328-94544329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200342537	chr1:94544331-94544332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534935670	chr1:94544380-94544381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150798623	chr1:94544382-94544383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568602789	chr1:94544431-94544432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535595849	chr1:94544456-94544457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201710193	chr1:94544459-94544460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373472070	chr1:94544520-94544521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575582175	chr1:94544615-94544616	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539830767	chr1:94544634-94544635	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549249258	chr1:94544659-94544660	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs114393289	chr1:94544662-94544663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573177216	chr1:94544698-94544699	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540492735	chr1:94544733-94544734	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561748483	chr1:94544742-94544743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376406190	chr1:94544745-94544746	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs71652550	chr1:94544800-94544801	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71652551	chr1:94544802-94544803	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544004082	chr1:94544805-94544806	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs199720469	chr1:94544806-94544807	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113931184	chr1:94544807-94544808	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113788038	chr1:94544808-94544809	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200943894	chr1:94544812-94544813	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550959889	chr1:94544817-94544818	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111777623	chr1:94544825-94544826	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374758024	chr1:94544867-94544868	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs267598778	chr1:94544890-94544891	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs387906387	chr1:94544892-94544893	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs61748550	chr1:94544895-94544896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs61751264	chr1:94544897-94544898	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150686179	chr1:94544906-94544907	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559674920	chr1:94544916-94544917	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372657740	chr1:94544920-94544921	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs61783978	chr1:94544932-94544933	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs561739905	chr1:94544944-94544945	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs372704965	chr1:94544950-94544951	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs201263774	chr1:94544951-94544952	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs376624031	chr1:94544962-94544963	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs61748549	chr1:94544977-94544978	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139650730	chr1:94544990-94544991	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs188540377	chr1:94544994-94544995	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs61753059	chr1:94545031-94545032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368747791	chr1:94545039-94545040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192907013	chr1:94545092-94545093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD

Chromatin state (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94535800-94547000	Weak transcription	NHDF-Ad	bronchial
2	chr1:94536400-94556400	Weak transcription	Right Atrium	heart
3	chr1:94536600-94544600	Weak transcription	Lung	lung
4	chr1:94539000-94544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:94539200-94544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:94539600-94544400	Weak transcription	Brain Germinal Matrix	brain
7	chr1:94539600-94546800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:94539600-94546800	Weak transcription	Dnd41	blood
9	chr1:94539600-94547000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:94539600-94548600	Weak transcription	Thymus	Thymus
11	chr1:94539800-94544600	Weak transcription	Fetal Thymus	thymus
12	chr1:94541600-94550400	Weak transcription	Spleen	Spleen
13	chr1:94543200-94545800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:94543600-94546000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:94543600-94546000	Enhancers	Fetal Kidney	kidney
16	chr1:94543600-94546600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:94543800-94545800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:94543800-94546200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:94543800-94546400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:94544000-94545000	Enhancers	Fetal Lung	lung
21	chr1:94544200-94544600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:94544200-94544600	Enhancers	HepG2	liver
23	chr1:94544200-94544800	Enhancers	Fetal Stomach	stomach
24	chr1:94544200-94545400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:94544200-94545800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:94544200-94545800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:94544400-94545000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:94544400-94545200	Enhancers	A549	lung
29	chr1:94544400-94545800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:94544400-94545800	Enhancers	Brain Germinal Matrix	brain
31	chr1:94544400-94546000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:94544400-94546000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:94544600-94544800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:94544600-94545000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:94544600-94545000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:94544600-94545000	Enhancers	Lung	lung
37	chr1:94544600-94545000	Enhancers	Ovary	ovary
38	chr1:94544600-94545000	Flanking Active TSS	HepG2	liver
39	chr1:94544600-94545000	Enhancers	NH-A	brain
40	chr1:94544600-94545200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:94544600-94545800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:94544600-94545800	Enhancers	Fetal Thymus	thymus
43	chr1:94544800-94545000	Enhancers	Brain Angular Gyrus	brain
44	chr1:94544800-94545000	Enhancers	HSMMtube	muscle
45	chr1:94544800-94545000	Enhancers	NHLF	lung
46	chr1:94544800-94545200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:94544800-94545200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:94544800-94545200	Enhancers	Brain Anterior Caudate	brain
49	chr1:94544800-94545400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:94544800-94546800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links