Variant report

Variant	nsv885865
Chromosome Location	chr6:45012223-45102025
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	chr6:45054220..45054815-chr6:45386791..45387562,3	MCF-7	breast:
2	chr6:45083331..45086142-chr6:45155794..45158780,2	K562	blood:
3	chr6:45092014..45095175-chr6:45095501..45098870,4	K562	blood:
4	chr12:48357281..48357866-chr6:45012051..45012551,2	Hela-S3	cervix:
5	chr6:45061664..45064501-chr6:45066770..45068668,2	K562	blood:
6	chr6:45071425..45074350-chr6:45080859..45082948,2	MCF-7	breast:
7	chr6:45054176..45055264-chr6:45386958..45387535,3	MCF-7	breast:
8	chr6:45093713..45096382-chr6:45127644..45129447,2	K562	blood:
9	chr6:45092014..45095175-chr6:45095501..45098870,4	K562	blood:
10	chr6:45049112..45051418-chr6:45052257..45055062,3	K562	blood:
11	chr6:45008781..45011238-chr6:45015698..45018079,2	MCF-7	breast:
12	chr6:45038976..45040613-chr6:45043879..45046271,2	K562	blood:
13	chr6:45049112..45051418-chr6:45052257..45055062,3	K562	blood:
14	chr6:45091825..45094517-chr6:45344694..45347186,2	MCF-7	breast:
15	chr6:44443174..44444085-chr6:45053756..45054587,2	MCF-7	breast:
16	chr6:45061664..45064501-chr6:45066770..45068668,2	K562	blood:
17	chr6:45071425..45074350-chr6:45080859..45082948,2	MCF-7	breast:
18	chr6:45038976..45040613-chr6:45043879..45046271,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134291	chromatin interactions
ENSG00000196284	chromatin interactions

Extended variants
information (count: 2965 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2965 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1411150	chr6:45012223-45012224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535202479	chr6:45012286-45012287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572337987	chr6:45012334-45012335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1023089	chr6:45012346-45012347	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs1023090	chr6:45012381-45012382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs539461529	chr6:45012391-45012392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1411149	chr6:45012438-45012439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575944547	chr6:45012460-45012461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191946642	chr6:45012484-45012485	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561613691	chr6:45012555-45012556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143925518	chr6:45012557-45012558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529101741	chr6:45012575-45012576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185305711	chr6:45012596-45012597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78040462	chr6:45012621-45012622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75464171	chr6:45012668-45012669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74776000	chr6:45012746-45012747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1041332	chr6:45012811-45012812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs190553830	chr6:45012847-45012848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530896127	chr6:45012892-45012893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150847910	chr6:45012894-45012895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56996484	chr6:45012898-45012899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534804289	chr6:45012905-45012906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140722141	chr6:45012949-45012950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535266936	chr6:45012958-45012959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186053758	chr6:45012992-45012993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188135488	chr6:45013010-45013011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539161366	chr6:45013013-45013014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377521875	chr6:45013078-45013079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145848993	chr6:45013085-45013086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575964277	chr6:45013101-45013102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138434450	chr6:45013178-45013179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113989935	chr6:45013207-45013208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573581615	chr6:45013328-45013329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144328435	chr6:45013361-45013362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546928401	chr6:45013376-45013377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540866761	chr6:45013388-45013389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559287634	chr6:45013422-45013423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78479162	chr6:45013430-45013431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545190258	chr6:45013439-45013440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563777674	chr6:45013449-45013450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570947299	chr6:45013470-45013471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543222848	chr6:45013473-45013474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148331510	chr6:45013493-45013494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560024258	chr6:45013632-45013633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527272990	chr6:45013639-45013640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561609864	chr6:45013658-45013659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565111122	chr6:45013735-45013736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180901222	chr6:45013799-45013800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373845746	chr6:45013802-45013803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548094031	chr6:45013843-45013844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45011200-45012600	Enhancers	HepG2	liver
2	chr6:45011800-45012600	Enhancers	Fetal Intestine Large	intestine
3	chr6:45012000-45013800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:45012200-45017000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:45012200-45022000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:45012600-45016800	Weak transcription	HepG2	liver
7	chr6:45013800-45020000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:45016400-45018000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:45016400-45019200	Enhancers	Dnd41	blood
10	chr6:45016400-45019600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:45016600-45017600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:45016600-45017600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:45016600-45017600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr6:45016600-45018600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:45016600-45019000	Enhancers	HUVEC	blood vessel
16	chr6:45016800-45017400	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:45016800-45017600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:45016800-45017600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:45016800-45018000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:45016800-45018200	Enhancers	Primary T cells from cord blood	blood
21	chr6:45016800-45018200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:45016800-45018200	Enhancers	HepG2	liver
23	chr6:45016800-45018200	Enhancers	K562	blood
24	chr6:45016800-45018600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:45016800-45019000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:45017000-45017200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:45017000-45017400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:45017000-45017400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:45017000-45017400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:45017000-45017400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:45017000-45017400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:45017000-45017400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:45017000-45017400	Enhancers	HMEC	breast
34	chr6:45017000-45017400	Enhancers	NH-A	brain
35	chr6:45017000-45017400	Enhancers	NHEK	skin
36	chr6:45017000-45017600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:45017000-45017600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:45017000-45017600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:45017000-45017800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:45017000-45018000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:45017000-45018000	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:45017000-45018000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:45017000-45018000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:45017000-45018000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr6:45017000-45018200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:45017200-45018000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:45017200-45018600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr6:45017400-45018400	Weak transcription	HMEC	breast
49	chr6:45017400-45018400	Weak transcription	NH-A	brain
50	chr6:45017400-45018400	Weak transcription	NHEK	skin

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