Variant report

Variant	esv3453193
Chromosome Location	chr1:228102029-228106627
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228078454..228080145-chr1:228100152..228102991,2	MCF-7	breast:
2	chr1:228099351..228102310-chr1:228112933..228115119,2	K562	blood:
3	chr1:228106073..228108518-chr1:228109587..228111859,2	K562	blood:
4	chr1:228102507..228105005-chr1:228106646..228109537,2	MCF-7	breast:
5	chr1:228094983..228097029-chr1:228105421..228107504,2	K562	blood:
6	chr1:228102020..228104817-chr1:228104964..228106972,3	K562	blood:
7	chr1:227926751..227929436-chr1:228101805..228104001,2	K562	blood:
8	chr1:228104214..228105732-chr1:228108237..228110826,2	MCF-7	breast:
9	chr1:228096764..228098830-chr1:228100833..228102833,2	K562	blood:
10	chr1:228075309..228077873-chr1:228100630..228103471,2	K562	blood:
11	chr1:228102020..228104817-chr1:228104964..228106972,3	K562	blood:

No data

Extended variants
information (count: 219 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556582872	chr1:228102045-228102046	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs368084368	chr1:228102083-228102084	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs577624088	chr1:228102144-228102145	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs559849484	chr1:228102180-228102181	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs544955161	chr1:228102214-228102215	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs531329321	chr1:228102240-228102241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs571998481	chr1:228102245-228102246	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs542842583	chr1:228102280-228102281	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs187399786	chr1:228102311-228102312	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs531506314	chr1:228102341-228102342	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs528846272	chr1:228102349-228102350	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs564955116	chr1:228102396-228102397	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs542258922	chr1:228102410-228102411	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs547414995	chr1:228102411-228102412	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs145858162	chr1:228102430-228102431	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs192189229	chr1:228102442-228102443	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs549622092	chr1:228102445-228102446	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs369702674	chr1:228102446-228102447	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs538392966	chr1:228102464-228102465	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs556384923	chr1:228102510-228102511	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs577712905	chr1:228102551-228102552	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs538686430	chr1:228102577-228102578	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs183583596	chr1:228102581-228102582	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs572037499	chr1:228102599-228102600	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs113125892	chr1:228102630-228102631	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs542580112	chr1:228102631-228102632	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs561202955	chr1:228102652-228102653	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs576167325	chr1:228102684-228102685	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs530629990	chr1:228102725-228102726	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs369401471	chr1:228102726-228102727	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs546959231	chr1:228102731-228102732	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs188532333	chr1:228102732-228102733	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs565022794	chr1:228102803-228102804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs532237978	chr1:228102848-228102849	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs547441621	chr1:228102871-228102872	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs138694096	chr1:228102919-228102920	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs551008411	chr1:228102940-228102941	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs114010725	chr1:228102977-228102978	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs549418998	chr1:228102989-228102990	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs567901806	chr1:228102993-228102994	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs884335	chr1:228103034-228103035	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs111711383	chr1:228103041-228103042	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs571440545	chr1:228103045-228103046	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs372289292	chr1:228103076-228103077	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs191860904	chr1:228103080-228103081	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs553822807	chr1:228103087-228103088	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs147018856	chr1:228103114-228103115	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs536608353	chr1:228103130-228103131	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs77960145	chr1:228103159-228103160	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs34780873	chr1:228103161-228103162	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228075600-228109200	Weak transcription	Right Atrium	heart
2	chr1:228096400-228104400	Weak transcription	Gastric	stomach
3	chr1:228096800-228104000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:228098600-228102800	Weak transcription	NHEK	skin
5	chr1:228098600-228108600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:228098600-228117600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
8	chr1:228099200-228108400	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:228099400-228102200	Weak transcription	HMEC	breast
10	chr1:228099400-228108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:228099400-228122400	Weak transcription	HSMM	muscle
12	chr1:228100200-228102200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:228100200-228103400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:228100200-228105600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:228100400-228102200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:228100400-228102200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:228100400-228102400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:228100400-228102600	Enhancers	Brain Hippocampus Middle	brain
19	chr1:228100400-228103000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:228100400-228104000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:228100400-228104000	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:228100400-228104200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:228100400-228105800	Enhancers	Fetal Stomach	stomach
24	chr1:228100600-228102400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:228100600-228102800	Enhancers	Fetal Lung	lung
26	chr1:228100600-228103200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:228100600-228104000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:228100600-228104000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:228100600-228104000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:228100600-228105000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:228100600-228105400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:228100600-228105800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:228100600-228108200	Enhancers	Fetal Muscle Leg	muscle
34	chr1:228100800-228102400	Enhancers	Brain Substantia Nigra	brain
35	chr1:228100800-228102600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr1:228100800-228103000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:228100800-228104800	Enhancers	Esophagus	oesophagus
38	chr1:228100800-228105600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:228101000-228102600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:228101000-228103200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:228101000-228103800	Enhancers	Fetal Intestine Large	intestine
42	chr1:228101200-228102400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr1:228101200-228102400	Enhancers	Fetal Brain Male	brain
44	chr1:228101200-228103000	Enhancers	Ovary	ovary
45	chr1:228101200-228103600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:228101200-228104400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:228101200-228110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:228101400-228104000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:228101400-228104000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:228101400-228104400	Weak transcription	Fetal Kidney	kidney

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