Variant report

Variant	nsv526408
Chromosome Location	chr6:44156470-44163624
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:0)
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	chr6:44156041..44157971-chr6:44162040..44164180,2	K562	blood:
2	chr6:44156041..44157971-chr6:44162040..44164180,2	K562	blood:
3	chr6:44152056..44154771-chr6:44158466..44160359,2	K562	blood:
4	chr6:44152329..44155208-chr6:44155507..44158419,2	K562	blood:
5	chr6:44160798..44163455-chr6:44198500..44200872,2	MCF-7	breast:
6	chr6:44159066..44161413-chr6:44165834..44168141,2	K562	blood:
7	chr6:44155967..44159125-chr6:44162040..44163972,4	K562	blood:
8	chr6:44101553..44104019-chr6:44156521..44158931,2	MCF-7	breast:
9	chr6:44155967..44159125-chr6:44162040..44163972,4	K562	blood:
10	chr6:44158701..44160566-chr6:44165912..44168141,2	K562	blood:
11	chr6:44117525..44119749-chr6:44162549..44165761,3	K562	blood:
12	chr6:44161412..44163559-chr6:44231584..44234301,2	MCF-7	breast:
13	chr6:44155358..44157152-chr6:44222734..44224483,2	MCF-7	breast:
14	chr6:44140167..44142052-chr6:44157797..44160127,2	K562	blood:
15	chr6:44158228..44160353-chr6:44168421..44170423,2	MCF-7	breast:
16	chr6:44157652..44161954-chr6:44169125..44172355,5	K562	blood:
17	chr6:44152776..44155726-chr6:44156919..44159966,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137216	chromatin interactions
ENSG00000146232	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1041524	chr6:44156470-44156471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13207350	chr6:44156509-44156510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561768090	chr6:44156576-44156577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183689398	chr6:44156577-44156578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1041525	chr6:44156605-44156606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77711254	chr6:44156621-44156622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375788182	chr6:44156636-44156637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529399880	chr6:44156652-44156653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138424326	chr6:44156690-44156691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544209727	chr6:44156713-44156714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142764236	chr6:44156769-44156770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551955989	chr6:44156782-44156783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs1018692	chr6:44156788-44156789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112960526	chr6:44156873-44156874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540558983	chr6:44156913-44156914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146925671	chr6:44156924-44156925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549545400	chr6:44156926-44156927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568026045	chr6:44157021-44157022	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186860884	chr6:44157061-44157062	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553841602	chr6:44157067-44157068	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372162628	chr6:44157138-44157139	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565390967	chr6:44157144-44157145	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539271641	chr6:44157171-44157172	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557498278	chr6:44157191-44157192	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114374856	chr6:44157193-44157194	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537332944	chr6:44157254-44157255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs137943041	chr6:44157289-44157290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573966062	chr6:44157341-44157342	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541023706	chr6:44157425-44157426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560303988	chr6:44157434-44157435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559887523	chr6:44157454-44157455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144086219	chr6:44157465-44157466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545632086	chr6:44157495-44157496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563855732	chr6:44157524-44157525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367693705	chr6:44157595-44157596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143390399	chr6:44157626-44157627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62401138	chr6:44157668-44157669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371932357	chr6:44157683-44157684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561382651	chr6:44157744-44157745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528886245	chr6:44157770-44157771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9462974	chr6:44157774-44157775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549914812	chr6:44157791-44157792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112485238	chr6:44157807-44157808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571235384	chr6:44157820-44157821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4714767	chr6:44157846-44157847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144416391	chr6:44157852-44157853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569021065	chr6:44157856-44157857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368145637	chr6:44157866-44157867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569514628	chr6:44157896-44157897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148798923	chr6:44157906-44157907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Urothelial carcinoma	21177765	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
Lung cancer	21569311	CNVD
Cancer	20164920	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44153000-44160200	Weak transcription	Fetal Intestine Small	intestine
2	chr6:44154000-44163800	Weak transcription	Thymus	Thymus
3	chr6:44154200-44160000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:44154200-44160200	Weak transcription	Lung	lung
5	chr6:44154400-44157200	Weak transcription	GM12878-XiMat	blood
6	chr6:44154400-44158400	Enhancers	HepG2	liver
7	chr6:44154400-44159800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:44154400-44160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:44154400-44160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:44154400-44160000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:44154400-44160000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:44154400-44160000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:44154400-44160200	Weak transcription	Left Ventricle	heart
14	chr6:44154400-44160200	Weak transcription	Right Atrium	heart
15	chr6:44154400-44160200	Weak transcription	Spleen	Spleen
16	chr6:44154400-44160400	Weak transcription	Fetal Heart	heart
17	chr6:44154400-44168400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:44154600-44157200	Weak transcription	Fetal Thymus	thymus
19	chr6:44154600-44159800	Weak transcription	K562	blood
20	chr6:44154600-44160000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:44154600-44160000	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:44154600-44160000	Weak transcription	Stomach Mucosa	stomach
23	chr6:44155000-44160200	Weak transcription	Adipose Nuclei	Adipose
24	chr6:44155200-44157000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:44155200-44159800	Weak transcription	HUVEC	blood vessel
26	chr6:44155200-44160200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:44155200-44160200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:44156200-44157800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:44157000-44157200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:44157000-44157200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:44157200-44157400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:44157200-44157600	Enhancers	Fetal Thymus	thymus
33	chr6:44157200-44160800	Enhancers	GM12878-XiMat	blood
34	chr6:44157600-44160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:44157600-44160200	Weak transcription	Fetal Thymus	thymus
36	chr6:44157800-44160200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:44158400-44159600	Weak transcription	HepG2	liver
38	chr6:44159600-44160200	Flanking Active TSS	HepG2	liver
39	chr6:44159800-44160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:44159800-44160000	Enhancers	K562	blood
41	chr6:44159800-44160200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:44159800-44160200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:44159800-44160200	Enhancers	HUVEC	blood vessel
44	chr6:44159800-44160400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:44159800-44160600	Enhancers	Primary hematopoietic stem cells	blood
46	chr6:44159800-44160800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:44159800-44160800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr6:44160000-44160200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:44160000-44160200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:44160000-44160200	Active TSS	Duodenum Mucosa	Duodenum

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