Variant report

Variant	nsv528503
Chromosome Location	chr1:114649247-114653675
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
2	chr1:114649451..114652163-chr1:114653443..114655264,2	K562	blood:
3	chr1:114633144..114634920-chr1:114648218..114649973,2	MCF-7	breast:
4	chr1:114653590..114655647-chr1:114659608..114662763,3	MCF-7	breast:
5	chr1:114650312..114651055-chr1:114757846..114758802,3	MCF-7	breast:
6	chr1:114644124..114646384-chr1:114646866..114650203,3	MCF-7	breast:
7	chr1:114653542..114655254-chr1:114680664..114683283,2	K562	blood:
8	chr1:114648677..114650215-chr1:115123817..115125650,2	MCF-7	breast:
9	chr1:114640429..114643571-chr1:114646249..114649896,5	MCF-7	breast:
10	chr1:114650141..114651043-chr16:67189132..67189782,2	MCF-7	breast:
11	chr1:114500099..114501893-chr1:114653415..114654957,2	MCF-7	breast:
12	chr1:114650119..114651429-chr1:114825151..114826103,7	MCF-7	breast:
13	chr1:114623443..114625086-chr1:114646378..114649376,2	MCF-7	breast:
14	chr1:114650188..114651033-chr1:114761777..114762403,2	MCF-7	breast:
15	chr1:114650116..114650666-chr1:114888919..114889669,2	MCF-7	breast:
16	chr1:114650358..114651004-chr1:114825232..114826038,3	MCF-7	breast:
17	chr1:114645148..114647343-chr1:114650102..114651737,2	MCF-7	breast:
18	chr1:114649451..114652163-chr1:114653443..114655264,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116752	chromatin interactions
ENSG00000102871	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:207 , 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	rs729300	chr1:114649247-114649248	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs901142	chr1:114649270-114649271	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs544595687	chr1:114649288-114649289	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184602990	chr1:114649291-114649292	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189746599	chr1:114649301-114649302	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2009907	chr1:114649318-114649319	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540434067	chr1:114649322-114649323	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181296487	chr1:114649328-114649329	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532174912	chr1:114649329-114649330	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545537328	chr1:114649379-114649380	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562225797	chr1:114649433-114649434	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531231452	chr1:114649461-114649462	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547847075	chr1:114649466-114649467	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75675467	chr1:114649489-114649490	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553945367	chr1:114649490-114649491	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185035369	chr1:114649580-114649581	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567000397	chr1:114649638-114649639	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112616528	chr1:114649695-114649696	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12040526	chr1:114649711-114649712	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139968300	chr1:114649723-114649724	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77022746	chr1:114649783-114649784	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs556774023	chr1:114649810-114649811	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559122441	chr1:114649845-114649846	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs643551	chr1:114649900-114649901	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569346819	chr1:114649918-114649919	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs487435	chr1:114649921-114649922	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs643485	chr1:114649946-114649947	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538258952	chr1:114649959-114649960	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554629047	chr1:114649965-114649966	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs486623	chr1:114649969-114649970	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574682071	chr1:114650014-114650015	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs485796	chr1:114650036-114650037	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189147432	chr1:114650052-114650053	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2629813	chr1:114650070-114650071	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554027329	chr1:114650086-114650087	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576658926	chr1:114650103-114650104	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12140761	chr1:114650147-114650148	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562263443	chr1:114650150-114650151	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531269792	chr1:114650151-114650152	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541818680	chr1:114650211-114650212	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs561477245	chr1:114650212-114650213	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11102732	chr1:114650259-114650260	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369249255	chr1:114650297-114650298	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs57246255	chr1:114650298-114650299	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386368129	chr1:114650299-114650300	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs397727607	chr1:114650302-114650303	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76590091	chr1:114650303-114650304	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199814610	chr1:114650305-114650306	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547018708	chr1:114650326-114650327	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560745931	chr1:114650338-114650339	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
2	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:114640600-114658800	Weak transcription	Fetal Brain Female	brain
4	chr1:114644600-114653200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:114646400-114651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:114647200-114650600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:114647200-114650600	Weak transcription	Psoas Muscle	Psoas
8	chr1:114647200-114651000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:114647400-114649600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:114647400-114649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:114647400-114650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:114647400-114650200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:114647600-114651000	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:114647800-114649400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:114647800-114650200	Genic enhancers	H1 Cell Line	embryonic stem cell
16	chr1:114647800-114650200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:114647800-114651000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:114647800-114652000	Enhancers	Fetal Intestine Large	intestine
19	chr1:114648000-114652000	Enhancers	Fetal Intestine Small	intestine
20	chr1:114648000-114655600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:114648600-114649800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:114648600-114654800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:114648600-114655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:114648800-114649400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:114648800-114650400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:114648800-114651200	Weak transcription	Fetal Stomach	stomach
27	chr1:114648800-114651600	Weak transcription	Fetal Lung	lung
28	chr1:114648800-114661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:114649000-114650000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:114649000-114650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:114649200-114650200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:114649200-114650400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:114649200-114651600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:114649200-114655400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:114649400-114649600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:114649400-114650200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:114649400-114661000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:114649600-114655600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:114649800-114652200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:114649800-114652800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:114650000-114651400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:114650000-114652800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:114650200-114650400	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:114650200-114651400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:114650200-114652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:114650200-114652800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:114650200-114654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:114650400-114650800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:114650400-114651800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:114650400-114652000	Enhancers	GM12878-XiMat	blood

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