Variant report

Variant	esv3339611
Chromosome Location	chr1:212098880-212100544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211848815..211850786-chr1:212097996..212100036,2	K562	blood:
2	chr1:212001096..212006492-chr1:212099928..212102658,5	MCF-7	breast:
3	chr1:212099492..212101681-chr1:212107704..212109737,2	MCF-7	breast:
4	chr1:212092565..212095366-chr1:212097974..212099950,2	MCF-7	breast:
5	chr1:211907600..211909602-chr1:212100181..212103074,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229258	chromatin interactions
ENSG00000123684	chromatin interactions
ENSG00000233626	chromatin interactions
ENSG00000231057	chromatin interactions
ENSG00000117650	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373428507	chr1:212099007-212099008	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs114611766	chr1:212099008-212099009	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs113709689	chr1:212099038-212099039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567952850	chr1:212099070-212099071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542895596	chr1:212099088-212099089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs193166444	chr1:212099119-212099120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs72748559	chr1:212099147-212099148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2970577	chr1:212099205-212099206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
9	rs34495335	chr1:212099221-212099222	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190143595	chr1:212099230-212099231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs73091040	chr1:212099249-212099250	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538402030	chr1:212099260-212099261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570023694	chr1:212099261-212099262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368597661	chr1:212099322-212099323	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs111321158	chr1:212099323-212099324	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs145125063	chr1:212099333-212099334	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539038752	chr1:212099365-212099366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534854483	chr1:212099368-212099369	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs559574580	chr1:212099490-212099491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371189558	chr1:212099502-212099503	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs558755776	chr1:212099555-212099556	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs577270972	chr1:212099727-212099728	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs544710812	chr1:212099729-212099730	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs556816868	chr1:212099766-212099767	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375086696	chr1:212099778-212099779	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs542294816	chr1:212099797-212099798	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs28432890	chr1:212099818-212099819	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs76845315	chr1:212099822-212099823	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs528419845	chr1:212099881-212099882	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs540384076	chr1:212099883-212099884	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs17654135	chr1:212099909-212099910	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201396037	chr1:212100005-212100006	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs551275033	chr1:212100018-212100019	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs532389484	chr1:212100027-212100028	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs551850191	chr1:212100028-212100029	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs570079397	chr1:212100029-212100030	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs530918273	chr1:212100030-212100031	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs549124471	chr1:212100031-212100032	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs567920140	chr1:212100032-212100033	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs12121937	chr1:212100108-212100109	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs200647555	chr1:212100113-212100114	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs546747667	chr1:212100121-212100122	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs571496263	chr1:212100144-212100145	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs538889908	chr1:212100161-212100162	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs71646135	chr1:212100164-212100165	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs138963279	chr1:212100166-212100167	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs555227290	chr1:212100221-212100222	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs142289577	chr1:212100325-212100326	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs573136457	chr1:212100326-212100327	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs2970576	chr1:212100383-212100384	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212084800-212113000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212085400-212101800	Weak transcription	Colonic Mucosa	Colon
3	chr1:212088000-212099200	Enhancers	Fetal Intestine Large	intestine
4	chr1:212088600-212099200	Enhancers	Fetal Intestine Small	intestine
5	chr1:212091000-212102200	Weak transcription	Esophagus	oesophagus
6	chr1:212093800-212101800	Weak transcription	Gastric	stomach
7	chr1:212094200-212103200	Weak transcription	Small Intestine	intestine
8	chr1:212094400-212101400	Weak transcription	Stomach Mucosa	stomach
9	chr1:212094400-212102200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:212095400-212101800	Weak transcription	Right Atrium	heart
11	chr1:212096600-212101800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:212098000-212099200	Enhancers	Fetal Muscle Leg	muscle
13	chr1:212098400-212099000	Enhancers	Brain Germinal Matrix	brain
14	chr1:212098400-212099000	Enhancers	A549	lung
15	chr1:212098400-212099600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:212098600-212101800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:212098600-212102000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:212098800-212099000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:212098800-212100000	Weak transcription	K562	blood
20	chr1:212098800-212100800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:212098800-212100800	Weak transcription	NHEK	skin
22	chr1:212098800-212101000	Weak transcription	HMEC	breast
23	chr1:212098800-212101200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:212098800-212101200	Weak transcription	Hela-S3	cervix
25	chr1:212098800-212101400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:212098800-212101400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:212098800-212101600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:212098800-212101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:212098800-212101600	Weak transcription	HepG2	liver
30	chr1:212098800-212101800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:212098800-212101800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:212098800-212106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:212099000-212100800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:212099000-212101400	Weak transcription	A549	lung
35	chr1:212099000-212101600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:212099200-212100600	Weak transcription	Fetal Intestine Large	intestine
37	chr1:212099200-212100600	Weak transcription	Fetal Intestine Small	intestine
38	chr1:212099200-212101800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:212099600-212101600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:212100000-212101400	Enhancers	K562	blood

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