Variant report

Variant	esv3358217
Chromosome Location	chr1:228341829-228346127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228282033..228284613-chr1:228342310..228344410,2	MCF-7	breast:
2	chr1:228343198..228344704-chr1:228404539..228407474,2	MCF-7	breast:
3	chr1:228291284..228293085-chr1:228340318..228343029,2	K562	blood:

Extended variants
information (count: 175 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566726297	chr1:228341886-228341887	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180800357	chr1:228341887-228341888	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186281966	chr1:228341901-228341902	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368479667	chr1:228341915-228341916	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538391462	chr1:228341937-228341938	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574195906	chr1:228341942-228341943	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4653535	chr1:228342014-228342015	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs372035440	chr1:228342071-228342072	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536837271	chr1:228342094-228342095	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112819835	chr1:228342104-228342105	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189133298	chr1:228342116-228342117	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111841782	chr1:228342122-228342123	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556411477	chr1:228342170-228342171	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181806893	chr1:228342184-228342185	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376551647	chr1:228342187-228342188	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140902578	chr1:228342210-228342211	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186834513	chr1:228342223-228342224	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545435758	chr1:228342266-228342267	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565229564	chr1:228342277-228342278	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541433071	chr1:228342300-228342301	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572466085	chr1:228342307-228342308	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561386101	chr1:228342346-228342347	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373229406	chr1:228342350-228342351	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543938176	chr1:228342422-228342423	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564092014	chr1:228342440-228342441	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533174403	chr1:228342458-228342459	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546534261	chr1:228342492-228342493	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560408290	chr1:228342569-228342570	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529247545	chr1:228342658-228342659	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549397886	chr1:228342694-228342695	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569300760	chr1:228342744-228342745	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538325942	chr1:228342756-228342757	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551865342	chr1:228342757-228342758	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571718483	chr1:228342799-228342800	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138521790	chr1:228342800-228342801	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554130252	chr1:228342805-228342806	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12069045	chr1:228342823-228342824	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191512313	chr1:228342852-228342853	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141497201	chr1:228342892-228342893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116568269	chr1:228342895-228342896	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375327188	chr1:228342904-228342905	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574911025	chr1:228342930-228342931	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369666347	chr1:228342965-228342966	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113739267	chr1:228342996-228342997	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183378408	chr1:228342997-228342998	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12404146	chr1:228342999-228343000	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs56377909	chr1:228343002-228343003	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs376281982	chr1:228343014-228343015	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375391245	chr1:228343019-228343020	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560437578	chr1:228343039-228343040	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228332800-228349800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:228333200-228342200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:228333200-228344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:228333800-228350400	Weak transcription	Primary B cells from cord blood	blood
5	chr1:228336000-228342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:228336600-228342000	Weak transcription	Primary T cells from cord blood	blood
7	chr1:228336800-228350200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:228337000-228342200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:228337000-228343000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:228337200-228342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:228337200-228344400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:228337400-228343000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:228337600-228343600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:228337800-228342000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:228337800-228342200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:228337800-228343200	Weak transcription	A549	lung
17	chr1:228337800-228349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:228338000-228342200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:228338000-228343600	Weak transcription	Fetal Brain Female	brain
20	chr1:228338000-228344000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:228338000-228349200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:228338000-228349600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:228338200-228342000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:228338200-228342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:228338200-228344800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:228338200-228344800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:228338200-228352400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:228338400-228349200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:228338600-228343000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:228339000-228344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:228339000-228346000	Weak transcription	HMEC	breast
32	chr1:228339200-228342000	Weak transcription	NHEK	skin
33	chr1:228339200-228342800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:228339200-228342800	Weak transcription	HSMM	muscle
35	chr1:228339400-228342200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:228339400-228342400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:228339400-228342800	Weak transcription	Osteobl	bone
38	chr1:228339400-228343000	Weak transcription	Stomach Mucosa	stomach
39	chr1:228339400-228343400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:228339400-228344400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:228339400-228344400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:228339400-228345000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:228339400-228352600	Weak transcription	Brain Anterior Caudate	brain
44	chr1:228339600-228342000	Weak transcription	Esophagus	oesophagus
45	chr1:228339600-228342800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:228339600-228342800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:228339600-228342800	Weak transcription	Lung	lung
48	chr1:228339600-228343000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:228339600-228344000	Weak transcription	Adipose Nuclei	Adipose
50	chr1:228339600-228345600	Weak transcription	Right Atrium	heart

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