Variant report

Variant	nsv3443
Chromosome Location	chr1:168577582-168622305
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:168575395..168578133-chr1:169074218..169076866,2	MCF-7	breast:
2	chr1:168606099..168608125-chr1:168618490..168620719,2	MCF-7	breast:
3	chr1:168604062..168606034-chr1:169316647..169318325,2	MCF-7	breast:
4	chr1:168606767..168607284-chr1:169078088..169078686,2	MCF-7	breast:
5	chr1:168590882..168592754-chr1:168594350..168596056,2	MCF-7	breast:
6	chr1:168595989..168597802-chr1:168600318..168603055,2	K562	blood:
7	chr1:168604931..168606716-chr1:169074466..169076968,2	MCF-7	breast:
8	chr1:168605132..168606019-chr1:169317390..169318347,3	MCF-7	breast:
9	chr1:168590993..168592623-chr1:168594725..168596497,2	K562	blood:
10	chr1:168595989..168597802-chr1:168600318..168603055,2	K562	blood:
11	chr1:168605217..168605845-chr1:169317745..169318328,2	MCF-7	breast:
12	chr1:168606300..168607332-chr1:169317339..169318501,5	MCF-7	breast:
13	chr1:168582928..168585268-chr1:168586137..168588678,2	K562	blood:
14	chr1:168613512..168616027-chr1:169073937..169076265,3	MCF-7	breast:
15	chr1:168406270..168408708-chr1:168577956..168579929,2	MCF-7	breast:
16	chr1:168582595..168585268-chr1:168586137..168589627,3	K562	blood:
17	chr1:168590276..168592775-chr1:169444079..169445970,2	K562	blood:
18	chr1:168581005..168585342-chr1:168586418..168588531,4	MCF-7	breast:
19	chr1:168606588..168607302-chr1:169317375..169317960,4	K562	blood:
20	chr1:168590993..168592623-chr1:168594725..168596497,2	K562	blood:
21	chr1:168605193..168606024-chr1:169103173..169104078,2	MCF-7	breast:
22	chr1:168607280..168610004-chr1:169101747..169103897,2	MCF-7	breast:
23	chr1:168605717..168608617-chr1:168609502..168611325,2	MCF-7	breast:
24	chr1:168620731..168623524-chrX:12991572..12994340,2	MCF-7	breast:
25	chr1:168590882..168592754-chr1:168594350..168596056,2	MCF-7	breast:
26	chr1:168605717..168608617-chr1:168609502..168611325,2	MCF-7	breast:
27	chr1:168609998..168611914-chr1:169075408..169077454,2	MCF-7	breast:
28	chr1:168581005..168585342-chr1:168586418..168588531,4	MCF-7	breast:
29	chr1:168578094..168580109-chr1:168583246..168584781,2	MCF-7	breast:
30	chr1:168587487..168589567-chr1:168600039..168601868,2	K562	blood:
31	chr1:168572846..168573369-chr1:168606389..168607281,2	MCF-7	breast:
32	chr1:168605284..168605980-chr1:168956282..168957205,2	MCF-7	breast:
33	chr1:168582928..168585268-chr1:168586137..168588678,2	K562	blood:
34	chr1:168578094..168580109-chr1:168583246..168584781,2	MCF-7	breast:
35	chr1:168587487..168589567-chr1:168600039..168601868,2	K562	blood:
36	chr1:168605162..168606714-chr1:168878547..168880681,2	K562	blood:
37	chr1:168582595..168585268-chr1:168586137..168589627,3	K562	blood:
38	chr1:168606099..168608125-chr1:168618490..168620719,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000205542	chromatin interactions
ENSG00000143153	chromatin interactions

Extended variants
information (count: 1684 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1684 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575144460	chr1:168577605-168577606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541705691	chr1:168577632-168577633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545425784	chr1:168577681-168577682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370283045	chr1:168577704-168577705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57989191	chr1:168577718-168577719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372669981	chr1:168577744-168577745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72707906	chr1:168577760-168577761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368783119	chr1:168577809-168577810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562146845	chr1:168577823-168577824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544219427	chr1:168577838-168577839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148967100	chr1:168577876-168577877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142865953	chr1:168577884-168577885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539820198	chr1:168577887-168577888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551832925	chr1:168577888-168577889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566960705	chr1:168577919-168577920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534337189	chr1:168577960-168577961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191868354	chr1:168577974-168577975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564339161	chr1:168578001-168578002	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184255474	chr1:168578143-168578144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373660857	chr1:168578186-168578187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79187260	chr1:168578199-168578200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556994593	chr1:168578200-168578201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377298146	chr1:168578216-168578217	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139525542	chr1:168578225-168578226	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79904409	chr1:168578227-168578228	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs575531866	chr1:168578243-168578244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577575184	chr1:168578270-168578271	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs151052293	chr1:168578298-168578299	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563788621	chr1:168578332-168578333	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs35782655	chr1:168578356-168578357	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572560017	chr1:168578376-168578377	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140841629	chr1:168578377-168578378	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs562275396	chr1:168578426-168578427	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529486521	chr1:168578444-168578445	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551181912	chr1:168578447-168578448	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560843323	chr1:168578471-168578472	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543515147	chr1:168578479-168578480	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187401730	chr1:168578492-168578493	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551796219	chr1:168578499-168578500	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386636568	chr1:168578551-168578552	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185369030	chr1:168578552-168578553	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145916305	chr1:168578562-168578563	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549222921	chr1:168578570-168578571	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377224820	chr1:168578574-168578575	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190813888	chr1:168578591-168578592	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138963152	chr1:168578685-168578686	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557162390	chr1:168578766-168578767	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180818212	chr1:168578768-168578769	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539354403	chr1:168578839-168578840	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs557291357	chr1:168578852-168578853	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	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
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
Retinoblastoma	19183342	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
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168568600-168578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:168569200-168582600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:168569600-168578600	Weak transcription	Left Ventricle	heart
4	chr1:168569600-168582400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:168569800-168578400	Weak transcription	Fetal Heart	heart
6	chr1:168570800-168578400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:168573200-168578000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:168573200-168582200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:168573400-168578000	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:168573400-168578800	Weak transcription	Right Ventricle	heart
11	chr1:168574800-168577800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:168574800-168578400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:168576000-168578200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:168576400-168578400	Weak transcription	Right Atrium	heart
15	chr1:168577000-168578800	Enhancers	Aorta	Aorta
16	chr1:168577000-168578800	Weak transcription	Psoas Muscle	Psoas
17	chr1:168577200-168578400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:168577800-168578600	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:168577800-168579600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:168577800-168579600	Enhancers	Fetal Muscle Leg	muscle
21	chr1:168578000-168578200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:168578000-168578400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:168578000-168578400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:168578000-168578400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:168578000-168579000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:168578000-168579200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:168578000-168579200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:168578000-168579600	Enhancers	Colon Smooth Muscle	Colon
29	chr1:168578000-168579600	Enhancers	Spleen	Spleen
30	chr1:168578200-168578600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:168578200-168578600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:168578200-168578600	Enhancers	Osteobl	bone
33	chr1:168578200-168578800	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:168578200-168579000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:168578200-168579200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:168578200-168582200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:168578400-168578600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:168578400-168578600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:168578400-168578600	Enhancers	Adipose Nuclei	Adipose
40	chr1:168578400-168578600	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:168578400-168578600	Enhancers	HSMMtube	muscle
42	chr1:168578400-168578800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:168578400-168578800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:168578400-168578800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:168578400-168579000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:168578400-168579000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:168578400-168579000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:168578400-168579000	Enhancers	Fetal Kidney	kidney
49	chr1:168578400-168579000	Bivalent Enhancer	Fetal Stomach	stomach
50	chr1:168578400-168579000	Enhancers	Right Atrium	heart

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