Variant report

Variant	esv2754432
Chromosome Location	chr1:180645343-180692343
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180659309..180661145-chr1:180702429..180704550,2	MCF-7	breast:
2	chr1:180671018..180672808-chr1:180721047..180723320,2	MCF-7	breast:
3	chr1:180646863..180649218-chr1:180650327..180652031,2	K562	blood:
4	chr1:180659367..180662219-chr1:180675558..180677595,2	MCF-7	breast:
5	chr1:180657321..180662997-chr1:180672435..180676141,5	K562	blood:
6	chr1:180683140..180685228-chr1:180690332..180692399,2	K562	blood:
7	chr1:180657321..180662997-chr1:180672435..180676141,5	K562	blood:
8	chr1:180659868..180662316-chr1:180673434..180676227,3	K562	blood:
9	chr1:180635790..180637980-chr1:180647004..180649044,3	K562	blood:
10	chr1:180659367..180662219-chr1:180675558..180677595,2	MCF-7	breast:
11	chr1:180612995..180614895-chr1:180645911..180648715,2	K562	blood:
12	chr1:180683140..180685228-chr1:180690332..180692399,2	K562	blood:
13	chr1:180684187..180686971-chr1:180690770..180693292,2	MCF-7	breast:
14	chr1:180659868..180662316-chr1:180673434..180676227,3	K562	blood:
15	chr1:180646863..180649218-chr1:180650327..180652031,2	K562	blood:
16	chr1:180684187..180686971-chr1:180690770..180693292,2	MCF-7	breast:
17	chr1:180685018..180687558-chr1:180706171..180708091,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1614-5	chr1:180650444-180650571	ucscGeneNc_uc009wxv_1

No data

Extended variants
information (count: 1774 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1774 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546412582	chr1:180645387-180645388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369234375	chr1:180645389-180645390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573529255	chr1:180645400-180645401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554199641	chr1:180645406-180645407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7527074	chr1:180645441-180645442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
6	rs567972598	chr1:180645444-180645445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535023241	chr1:180645555-180645556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553458985	chr1:180645568-180645569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16856367	chr1:180645588-180645589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181896885	chr1:180645602-180645603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542531893	chr1:180645603-180645604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561241644	chr1:180645644-180645645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77704515	chr1:180645659-180645660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542411388	chr1:180645778-180645779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151205111	chr1:180645923-180645924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535781545	chr1:180646022-180646023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12090165	chr1:180646150-180646151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74135806	chr1:180646164-180646165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186928893	chr1:180646207-180646208	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550694706	chr1:180646232-180646233	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569316449	chr1:180646266-180646267	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs78574352	chr1:180646279-180646280	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73051221	chr1:180646282-180646283	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149931170	chr1:180646362-180646363	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545072838	chr1:180646393-180646394	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144263610	chr1:180646471-180646472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552999626	chr1:180646487-180646488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191171218	chr1:180646488-180646489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs368185121	chr1:180646499-180646500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs148740873	chr1:180646538-180646539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557118074	chr1:180646540-180646541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575302192	chr1:180646544-180646545	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs73051223	chr1:180646573-180646574	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563908988	chr1:180646596-180646597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181859905	chr1:180646634-180646635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs75987606	chr1:180646644-180646645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs185403014	chr1:180646698-180646699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375604015	chr1:180646699-180646700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189717820	chr1:180646726-180646727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546522671	chr1:180646808-180646809	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183310838	chr1:180646869-180646870	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569337315	chr1:180646878-180646879	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187803451	chr1:180646885-180646886	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76188280	chr1:180646914-180646915	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75182423	chr1:180646965-180646966	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs61809314	chr1:180646968-180646969	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559310305	chr1:180646973-180646974	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571237456	chr1:180647032-180647033	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146780164	chr1:180647061-180647062	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs140547072	chr1:180647123-180647124	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180635200-180654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:180636400-180647200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:180636400-180651800	Weak transcription	Ovary	ovary
5	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
6	chr1:180640600-180660600	Weak transcription	Right Ventricle	heart
7	chr1:180641000-180653200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:180641200-180647400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:180641200-180653400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:180641600-180661200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:180642200-180658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:180642800-180646200	Weak transcription	Pancreas	Pancrea
14	chr1:180643000-180651400	Weak transcription	Primary B cells from cord blood	blood
15	chr1:180643000-180659000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:180643200-180647200	Weak transcription	Primary T cells from cord blood	blood
17	chr1:180644000-180645800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:180644000-180646200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:180644000-180660400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:180644000-180660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:180644000-180662600	Weak transcription	Left Ventricle	heart
22	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:180644200-180645400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:180644200-180645800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:180644200-180645800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:180644800-180645400	Enhancers	HUVEC	blood vessel
27	chr1:180644800-180645600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:180645000-180646400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:180645200-180646800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:180645200-180647200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:180645200-180651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:180645200-180652600	Weak transcription	NHEK	skin
33	chr1:180645200-180659400	Weak transcription	A549	lung
34	chr1:180645600-180649600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:180645800-180651800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:180646200-180646400	Enhancers	Pancreas	Pancrea
37	chr1:180646200-180647400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:180646400-180662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:180646800-180647200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:180646800-180647200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:180646800-180647400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:180647200-180647400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:180647200-180647400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr1:180647200-180648000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:180647400-180651800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:180647400-180662600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:180647600-180661200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:180648000-180648200	Weak transcription	Fetal Brain Male	brain
49	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:180648200-180648400	Weak transcription	Fetal Intestine Small	intestine

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