Variant report

Variant	esv3407887
Chromosome Location	chr1:228525029-228529227
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228527319..228529174-chr1:228643388..228645419,2	K562	blood:
2	chr1:228524093..228525879-chr1:228554988..228557078,2	K562	blood:
3	chr1:228524747..228527343-chr1:228593617..228595483,2	K562	blood:
4	chr1:228526564..228529508-chr1:228637709..228639977,2	K562	blood:
5	chr1:228525657..228530496-chr1:228643263..228648636,7	MCF-7	breast:
6	chr1:228186682..228187204-chr1:228524681..228525438,2	K562	blood:
7	chr1:228521555..228523351-chr1:228525829..228528676,2	K562	blood:
8	chr1:228527085..228530281-chr1:228640175..228642076,3	K562	blood:
9	chr1:228512388..228514369-chr1:228524102..228526844,2	K562	blood:
10	chr1:228522958..228525052-chr1:228549097..228552034,2	K562	blood:
11	chr1:228527674..228533298-chr1:228643388..228648856,7	K562	blood:
12	chr1:228527379..228529811-chr1:228531746..228535149,3	K562	blood:
13	chr1:228527728..228529697-chr1:228564611..228569014,3	MCF-7	breast:
14	chr1:228524302..228525879-chr1:228555578..228557271,2	K562	blood:
15	chr1:228504356..228506678-chr1:228523750..228525517,2	K562	blood:
16	chr1:228528354..228531770-chr1:228642753..228646292,3	MCF-7	breast:
17	chr1:228523292..228526039-chr1:228527019..228529476,2	MCF-7	breast:
18	chr1:228522856..228526784-chr1:228644057..228646469,5	K562	blood:
19	chr1:228525990..228529062-chr1:228536667..228539539,3	K562	blood:
20	chr1:228528381..228528953-chr1:228645146..228645771,2	K562	blood:
21	chr1:228528065..228528943-chr1:228643524..228644134,2	MCF-7	breast:
22	chr1:228528294..228529171-chr1:228659243..228660230,3	K562	blood:
23	chr1:228523292..228526039-chr1:228527019..228529476,2	MCF-7	breast:
24	chr1:228520543..228523055-chr1:228527176..228529354,3	K562	blood:
25	chr1:228528158..228528703-chr1:228703089..228703660,2	K562	blood:
26	chr1:228524343..228526526-chr1:228540350..228542886,2	MCF-7	breast:
27	chr1:228527562..228531563-chr1:228538039..228541422,5	K562	blood:
28	chr1:228528337..228529146-chr1:228581029..228581861,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196890	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000231563	chromatin interactions
ENSG00000154358	chromatin interactions

Extended variants
information (count: 290 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:290 , 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	rs543641465	chr1:228525045-228525046	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs375781861	chr1:228525066-228525067	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs369078292	chr1:228525069-228525070	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs372745718	chr1:228525076-228525077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs34771878	chr1:228525079-228525080	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs377305461	chr1:228525081-228525082	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs369569093	chr1:228525091-228525092	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs12023522	chr1:228525207-228525208	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116110798	chr1:228525245-228525246	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs540920621	chr1:228525253-228525254	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs552415806	chr1:228525260-228525261	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs559410920	chr1:228525268-228525269	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs150399896	chr1:228525298-228525299	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs527441658	chr1:228525299-228525300	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs548186488	chr1:228525366-228525367	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs7512000	chr1:228525370-228525371	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113204224	chr1:228525441-228525442	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs537194260	chr1:228525464-228525465	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs74144604	chr1:228525495-228525496	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs571057414	chr1:228525509-228525510	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs539657524	chr1:228525538-228525539	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs553599191	chr1:228525545-228525546	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs373671104	chr1:228525546-228525547	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs35238631	chr1:228525548-228525549	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs534593470	chr1:228525551-228525552	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs34047522	chr1:228525561-228525562	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs367691111	chr1:228525585-228525586	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs187628343	chr1:228525593-228525594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs1757127	chr1:228525627-228525628	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377659133	chr1:228525641-228525642	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs376261083	chr1:228525659-228525660	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs370688584	chr1:228525680-228525681	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs200399831	chr1:228525689-228525690	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs376942126	chr1:228525690-228525691	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs370321002	chr1:228525694-228525695	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs375507173	chr1:228525710-228525711	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs576941634	chr1:228525713-228525714	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs376329168	chr1:228525714-228525715	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs35548348	chr1:228525740-228525741	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs371048154	chr1:228525759-228525760	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs545684056	chr1:228525772-228525773	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs374189696	chr1:228525776-228525777	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs7414044	chr1:228525789-228525790	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs368402411	chr1:228525795-228525796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs528408400	chr1:228525799-228525800	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs372037309	chr1:228525802-228525803	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs191098985	chr1:228525823-228525824	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs367672040	chr1:228525865-228525866	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs184789080	chr1:228525885-228525886	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs556161144	chr1:228525886-228525887	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228504400-228529600	Weak transcription	Colonic Mucosa	Colon
2	chr1:228508600-228526800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:228508800-228530200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:228510000-228526200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:228510000-228531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:228510000-228554600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:228510200-228528000	Weak transcription	Fetal Thymus	thymus
8	chr1:228510200-228531200	Weak transcription	Hela-S3	cervix
9	chr1:228511200-228526800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:228511200-228530000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:228511400-228528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:228511400-228552400	Weak transcription	Psoas Muscle	Psoas
13	chr1:228511600-228526800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:228512400-228526600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:228512400-228532200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:228512600-228527000	Weak transcription	Fetal Brain Male	brain
17	chr1:228512800-228526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:228512800-228526800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:228512800-228526800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:228512800-228529200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:228512800-228531400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:228512800-228532600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:228513400-228531400	Weak transcription	Fetal Kidney	kidney
24	chr1:228518000-228527000	Weak transcription	Fetal Heart	heart
25	chr1:228518800-228534200	Weak transcription	Right Atrium	heart
26	chr1:228519000-228528800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:228519200-228531400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:228520000-228527800	Strong transcription	Brain Germinal Matrix	brain
29	chr1:228520000-228528400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:228520000-228538000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:228520200-228526200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:228520200-228531800	Strong transcription	Thymus	Thymus
33	chr1:228520200-228532000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:228520200-228532000	Strong transcription	Left Ventricle	heart
35	chr1:228520200-228538200	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:228520400-228527000	Strong transcription	Lung	lung
37	chr1:228520400-228527600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:228520400-228529600	Strong transcription	Fetal Intestine Small	intestine
39	chr1:228520400-228531400	Strong transcription	Right Ventricle	heart
40	chr1:228520400-228531600	Strong transcription	Fetal Stomach	stomach
41	chr1:228520400-228532400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:228520400-228535000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:228520400-228535200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:228520600-228528000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:228520600-228528400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:228520600-228532000	Strong transcription	Fetal Brain Female	brain
47	chr1:228520800-228528400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:228521000-228528200	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr1:228521200-228528400	Strong transcription	Primary T cells from cord blood	blood
50	chr1:228521400-228527000	Weak transcription	Ovary	ovary

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