Variant report

Variant	nsv871085
Chromosome Location	chr1:102562640-102726399
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:10)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:102580503..102583097-chr1:102602225..102604313,2	K562	blood:
2	chr1:102569587..102571901-chr1:102578895..102580582,2	K562	blood:
3	chr1:102685538..102686359-chr1:201441216..201441918,2	MCF-7	breast:
4	chr1:102459133..102459923-chr1:102657241..102657780,2	MCF-7	breast:
5	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
6	chr1:54418703..54421611-chr1:102613977..102616372,3	MCF-7	breast:
7	chr1:102285335..102286320-chr1:102656866..102657699,4	MCF-7	breast:
8	chr1:102580503..102583097-chr1:102602225..102604313,2	K562	blood:
9	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
10	chr1:102569587..102571901-chr1:102578895..102580582,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-1	chr1:102665295-102665553	XLOC_000943
2	lnc-OLFM3-3	chr1:102625506-102625565	NONHSAT004870
3	lnc-OLFM3-3	chr1:102627638-102627774	NONHSAT004870
4	lnc-OLFM3-3	chr1:102626679-102626773	NONHSAT004870
5	lnc-S1PR1-5	chr1:102571334-102571564	XLOC_000321
6	lnc-S1PR1-5	chr1:102569886-102569928	XLOC_000321
7	lnc-OLFM3-3	chr1:102625349-102625395	NONHSAT004870

No data

Variant related genes	Relation type
MEST	miRNA target sites

Extended variants
information (count: 1854 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1854 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6684718	chr1:102562640-102562641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182156910	chr1:102562675-102562676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187103252	chr1:102562774-102562775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11800292	chr1:102562782-102562783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537026820	chr1:102562792-102562793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146761617	chr1:102562805-102562806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569322928	chr1:102562816-102562817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183851306	chr1:102562841-102562842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540919594	chr1:102562849-102562850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553239073	chr1:102562896-102562897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577402997	chr1:102562929-102562930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544853494	chr1:102563019-102563020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532078685	chr1:102563020-102563021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563422125	chr1:102563028-102563029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190015584	chr1:102563051-102563052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550200394	chr1:102563119-102563120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193015418	chr1:102563139-102563140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369789709	chr1:102563140-102563141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61806003	chr1:102563182-102563183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376442954	chr1:102563203-102563204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528490951	chr1:102563217-102563218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4576673	chr1:102563229-102563230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571954150	chr1:102563230-102563231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532731158	chr1:102563235-102563236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551228651	chr1:102563265-102563266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373613104	chr1:102563273-102563274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569487965	chr1:102563370-102563371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537113851	chr1:102563374-102563375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199909589	chr1:102563404-102563405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4564159	chr1:102563421-102563422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs35826769	chr1:102563435-102563436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567107862	chr1:102563475-102563476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534651686	chr1:102563483-102563484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552992670	chr1:102563514-102563515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577546675	chr1:102563517-102563518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566536579	chr1:102563532-102563533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544790329	chr1:102563543-102563544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556706611	chr1:102563555-102563556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61806004	chr1:102563569-102563570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140371400	chr1:102563681-102563682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561442961	chr1:102563682-102563683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573147092	chr1:102563721-102563722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185734940	chr1:102563726-102563727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149878431	chr1:102563765-102563766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551316505	chr1:102563791-102563792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563022050	chr1:102563807-102563808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190597681	chr1:102563849-102563850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548791983	chr1:102563884-102563885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202060583	chr1:102563916-102563917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78560512	chr1:102563923-102563924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102561800-102565000	Enhancers	HMEC	breast
2	chr1:102562400-102564800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:102562600-102563400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:102562600-102564200	Enhancers	Placenta	Placenta
5	chr1:102562800-102564400	Enhancers	Stomach Mucosa	stomach
6	chr1:102563000-102563600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:102563200-102564400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:102563400-102563600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:102563800-102567800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:102564400-102568000	Weak transcription	Stomach Mucosa	stomach
11	chr1:102564600-102565000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:102565600-102568400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:102565800-102568600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:102566200-102566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:102566200-102567000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:102566400-102567800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:102566800-102567000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:102566800-102568400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:102567000-102567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:102567000-102567800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:102567600-102568200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:102567600-102568200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:102567600-102568400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:102567800-102568200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:102567800-102568200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:102567800-102568200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:102567800-102568200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:102567800-102568400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:102567800-102568400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:102567800-102568400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:102568000-102568200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:102568000-102568200	Enhancers	Stomach Mucosa	stomach
33	chr1:102568000-102568400	Enhancers	Fetal Intestine Small	intestine
34	chr1:102568000-102568800	Enhancers	Fetal Intestine Large	intestine
35	chr1:102568200-102569800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:102568200-102570200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:102568200-102570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:102568200-102570400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:102568200-102570600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:102568200-102571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:102568400-102568800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:102568400-102570200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:102568400-102570400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:102568400-102570400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:102568400-102570600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:102568400-102570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:102568400-102571800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:102568600-102569600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:102568800-102569800	Weak transcription	Fetal Intestine Large	intestine
50	chr1:102568800-102570600	Enhancers	Fetal Intestine Small	intestine

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