Variant report

Variant	esv2756868
Chromosome Location	chr1:165417526-165425536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:165422159-165422203	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:165422119-165422190	K562	blood:	n/a	n/a
3	CTCF	chr1:165423600-165423750	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr1:165423480-165423630	GM12873	blood:	n/a	n/a
5	CTCF	chr1:165423540-165423690	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr1:165422020-165422170	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr1:165422060-165422210	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr1:165422060-165422210	HEK293	kidney:	n/a	n/a
9	CTCF	chr1:165422027-165422049	K562	blood:	n/a	n/a
10	FAM48A	chr1:165420333-165420396	GM12878	blood:	n/a	n/a
11	FOSL2	chr1:165425330-165425845	MCF-7	breast:	n/a	chr1:165425605-165425613
12	FOXM1	chr1:165425346-165425952	MCF-7	breast:	n/a	n/a
13	FOXM1	chr1:165425350-165425819	MCF-7	breast:	n/a	n/a
14	GATA3	chr1:165425372-165425883	T-47D	breast:	n/a	n/a
15	GATA3	chr1:165425525-165425841	MCF-7	breast:	n/a	n/a
16	GATA3	chr1:165425248-165426069	MCF-7	breast:	n/a	n/a
17	GATA3	chr1:165425462-165425859	MCF-7	breast:	n/a	n/a
18	GATA3	chr1:165425150-165425990	MCF-7	breast:	n/a	n/a
19	HDAC2	chr1:165425370-165425840	MCF-7	breast:	n/a	n/a
20	JUND	chr1:165425471-165425833	MCF-7	breast:	n/a	chr1:165425605-165425613
21	JUND	chr1:165425372-165425871	MCF-7	breast:	n/a	chr1:165425605-165425613
22	MAX	chr1:165425396-165425810	MCF-7	breast:	n/a	n/a
23	NR2F2	chr1:165425354-165425843	MCF-7	breast:	n/a	n/a
24	NRF1	chr1:165418153-165418281	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:165424560-165424679	GM12878	blood:	n/a	n/a
26	REST	chr1:165425397-165425643	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr1:165425304-165425796	MCF-7	breast:	n/a	n/a
28	REST	chr1:165425275-165425791	MCF-7	breast:	n/a	n/a
29	RFX5	chr1:165422416-165422621	K562	blood:	n/a	n/a
30	SIN3AK20	chr1:165425379-165426019	MCF-7	breast:	n/a	n/a
31	STAT3	chr1:165420157-165420310	MCF10A-Er-Src	breast:	n/a	n/a
32	TCF7L2	chr1:165425509-165425805	MCF-7	breast:	n/a	n/a
33	TEAD4	chr1:165425385-165425799	A549	lung:	n/a	n/a
34	ZNF217	chr1:165425433-165425877	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165418887..165420482-chr1:165423380..165425136,2	K562	blood:
2	chr1:165402156..165404759-chr1:165423065..165425752,2	MCF-7	breast:
3	chr1:165420099..165422581-chr1:165428769..165430310,2	K562	blood:
4	chr1:165418887..165420482-chr1:165423380..165425136,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RXRG-3	chr1:165417903-165418054	NONHSAT007307
2	lnc-RXRG-3	chr1:165417903-165418054	NONHSAT007308
3	lnc-RXRG-3	chr1:165417903-165418054	NONHSAT007305

No data

Variant related genes	Relation type
RXRG	TF binding region

Extended variants
information (count: 343 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16844905	chr1:165417526-165417527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559115244	chr1:165417576-165417577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572750907	chr1:165417581-165417582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78033998	chr1:165417582-165417583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10918183	chr1:165417670-165417671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530849964	chr1:165417671-165417672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550280147	chr1:165417681-165417682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181811856	chr1:165417731-165417732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529774688	chr1:165417742-165417743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546756367	chr1:165417748-165417749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186840753	chr1:165417764-165417765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535260687	chr1:165417770-165417771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538897660	chr1:165417808-165417809	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs34559320	chr1:165417847-165417848	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12411116	chr1:165417914-165417915	Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571811807	chr1:165417933-165417934	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
17	rs137960754	chr1:165417952-165417953	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
18	rs4656446	chr1:165417953-165417954	Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190406151	chr1:165417989-165417990	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
20	rs371198113	chr1:165418005-165418006	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs536346361	chr1:165418011-165418012	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs553082227	chr1:165418047-165418048	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs375832287	chr1:165418079-165418080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572688727	chr1:165418094-165418095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544770984	chr1:165418098-165418099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565110385	chr1:165418115-165418116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575403477	chr1:165418118-165418119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182697312	chr1:165418187-165418188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs186972863	chr1:165418223-165418224	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs529760404	chr1:165418307-165418308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369134291	chr1:165418321-165418322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560323192	chr1:165418322-165418323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12569244	chr1:165418348-165418349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557447936	chr1:165418349-165418350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578051336	chr1:165418377-165418378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141511887	chr1:165418385-165418386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1887099	chr1:165418421-165418422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10918184	chr1:165418432-165418433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537520764	chr1:165418446-165418447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551305319	chr1:165418465-165418466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139368341	chr1:165418466-165418467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151074192	chr1:165418467-165418468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200952767	chr1:165418474-165418475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141883670	chr1:165418475-165418476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371598670	chr1:165418476-165418477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61800592	chr1:165418478-165418479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61800593	chr1:165418480-165418481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567301966	chr1:165418484-165418485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1887098	chr1:165418486-165418487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552967813	chr1:165418521-165418522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	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
Breast cancer	17899364	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
Type 2 diabetes	19141583	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
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165415400-165422000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:165416000-165418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:165417600-165417800	Enhancers	Fetal Muscle Leg	muscle
4	chr1:165417800-165418000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr1:165417800-165420400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:165418200-165419400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:165420000-165420200	Enhancers	Left Ventricle	heart
8	chr1:165420200-165421000	Weak transcription	Left Ventricle	heart
9	chr1:165420400-165424400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:165420600-165421000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:165421000-165421200	Enhancers	Left Ventricle	heart
12	chr1:165421000-165421600	Enhancers	Fetal Heart	heart
13	chr1:165421000-165422400	Enhancers	Psoas Muscle	Psoas
14	chr1:165421000-165422400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:165421200-165422000	Weak transcription	Left Ventricle	heart
16	chr1:165421600-165422400	Flanking Active TSS	Fetal Heart	heart
17	chr1:165421800-165422000	Flanking Active TSS	HSMMtube	muscle
18	chr1:165421800-165423200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:165422000-165422200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:165422000-165422400	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:165422000-165423000	Weak transcription	HSMMtube	muscle
22	chr1:165422000-165423200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:165422000-165423200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:165422000-165423200	Enhancers	Left Ventricle	heart
25	chr1:165422200-165433200	Weak transcription	Right Ventricle	heart
26	chr1:165422400-165423600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:165422400-165423800	Enhancers	Fetal Heart	heart
28	chr1:165423000-165423400	Enhancers	HSMMtube	muscle
29	chr1:165423200-165424000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:165423200-165425400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:165423600-165424400	Enhancers	Fetal Muscle Trunk	muscle
32	chr1:165424000-165434800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:165425000-165425200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:165425200-165425800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:165425200-165426200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:165425400-165426200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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