Variant report

Variant	esv3436153
Chromosome Location	chr1:197892029-197896227
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197490059..197490926-chr1:197893382..197894293,3	K562	blood:
2	chr1:197584129..197584940-chr1:197893429..197894167,4	MCF-7	breast:
3	chr1:197895311..197899448-chr1:197962393..197965132,3	K562	blood:
4	chr1:197496825..197498646-chr1:197892256..197894438,2	MCF-7	breast:
5	chr1:197890943..197893106-chr1:197894108..197896331,3	K562	blood:
6	chr1:197369298..197369841-chr1:197893280..197894107,2	MCF-7	breast:
7	chr1:197360706..197361276-chr1:197893436..197894290,4	MCF-7	breast:
8	chr1:197584245..197585109-chr1:197893726..197894310,2	MCF-7	breast:
9	chr1:197883679..197885505-chr1:197891124..197892943,2	MCF-7	breast:
10	chr1:197744305..197744943-chr1:197893354..197894081,2	K562	blood:
11	chr1:197890068..197892957-chr1:197897006..197899178,2	K562	blood:
12	chr1:197870531..197872562-chr1:197893700..197896625,2	K562	blood:
13	chr1:197889791..197892957-chr1:197895831..197898506,3	K562	blood:
14	chr1:197895621..197897203-chr1:197901523..197904418,2	MCF-7	breast:
15	chr1:197661830..197662539-chr1:197893369..197893878,3	MCF-7	breast:
16	chr1:197890943..197893106-chr1:197894108..197896331,3	K562	blood:
17	chr1:197895559..197897931-chr1:197903376..197905564,2	K562	blood:
18	chr1:197889791..197892957-chr1:197895831..197898506,3	K562	blood:
19	chr1:197495874..197496814-chr1:197893397..197894241,3	MCF-7	breast:
20	chr1:197865545..197868503-chr1:197890985..197893246,2	K562	blood:
21	chr1:197490338..197491289-chr1:197893428..197894214,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143355	chromatin interactions
ENSG00000213047	chromatin interactions
ENSG00000203724	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs568090705	chr1:197892054-197892055	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371596542	chr1:197892079-197892080	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535089383	chr1:197892095-197892096	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557058156	chr1:197892164-197892165	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568853434	chr1:197892166-197892167	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140385180	chr1:197892183-197892184	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150384123	chr1:197892200-197892201	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572815984	chr1:197892243-197892244	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35318568	chr1:197892245-197892246	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12029707	chr1:197892252-197892253	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34597059	chr1:197892261-197892262	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555229085	chr1:197892266-197892267	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571686782	chr1:197892286-197892287	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35533039	chr1:197892305-197892306	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574819716	chr1:197892306-197892307	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558506679	chr1:197892315-197892316	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72744986	chr1:197892334-197892335	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115311204	chr1:197892353-197892354	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575608970	chr1:197892367-197892368	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112489522	chr1:197892376-197892377	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188035653	chr1:197892400-197892401	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115995125	chr1:197892412-197892413	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547351752	chr1:197892424-197892425	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562359804	chr1:197892443-197892444	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141510596	chr1:197892474-197892475	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147039235	chr1:197892492-197892493	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34100116	chr1:197892551-197892552	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536298861	chr1:197892566-197892567	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138352652	chr1:197892575-197892576	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs148599324	chr1:197892625-197892626	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35551488	chr1:197892626-197892627	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141774608	chr1:197892633-197892634	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71687222	chr1:197892635-197892636	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72129114	chr1:197892642-197892643	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374390185	chr1:197892651-197892652	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs55845602	chr1:197892652-197892653	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs199765474	chr1:197892656-197892657	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150358936	chr1:197892682-197892683	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551041485	chr1:197892690-197892691	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6684612	chr1:197892712-197892713	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs78107421	chr1:197892713-197892714	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs16842127	chr1:197892733-197892734	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs16842129	chr1:197892735-197892736	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191289034	chr1:197892772-197892773	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183876279	chr1:197892779-197892780	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4915253	chr1:197892793-197892794	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187000454	chr1:197892808-197892809	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200935385	chr1:197892849-197892850	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192731909	chr1:197892864-197892865	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113221369	chr1:197892886-197892887	Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	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
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197889400-197893000	Weak transcription	Right Atrium	heart
2	chr1:197890400-197892200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:197891800-197893600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:197892000-197892800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:197892000-197895600	Weak transcription	Ovary	ovary
6	chr1:197892200-197892400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr1:197892200-197892400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:197892200-197892600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr1:197892400-197892600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr1:197892400-197892600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr1:197892400-197892600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:197892600-197892800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr1:197892600-197892800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr1:197893000-197893200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:197893000-197893200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr1:197895600-197896000	Enhancers	Ovary	ovary
17	chr1:197896000-197896600	Weak transcription	Ovary	ovary

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