Variant report

Variant	esv2754341
Chromosome Location	chr1:175333392-175341021
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	chr1:175335655..175338184-chr1:175339358..175341274,2	K562	blood:
2	chr1:175331977..175334128-chr1:175335183..175337534,2	K562	blood:
3	chr1:175332821..175334898-chr1:175339642..175341284,2	K562	blood:
4	chr1:175328269..175331087-chr1:175331574..175333758,2	K562	blood:
5	chr1:175332821..175334898-chr1:175339642..175341284,2	K562	blood:
6	chr1:175327459..175330338-chr1:175333333..175335961,2	K562	blood:
7	chr1:175332849..175335615-chr1:175337630..175341142,3	K562	blood:
8	chr1:175335655..175338184-chr1:175339358..175341274,2	K562	blood:
9	chr1:175337824..175339919-chr1:175344039..175346439,2	K562	blood:
10	chr1:175331977..175334128-chr1:175335183..175337534,2	K562	blood:
11	chr1:175332849..175335615-chr1:175337630..175341142,3	K562	blood:

No data

Extended variants
information (count: 317 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:317 , 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	rs2859049	chr1:175333392-175333393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143065379	chr1:175333396-175333397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562986661	chr1:175333430-175333431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187523940	chr1:175333434-175333435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143711110	chr1:175333441-175333442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373695291	chr1:175333463-175333464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77559540	chr1:175333464-175333465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71129505	chr1:175333477-175333478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559622492	chr1:175333512-175333513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528340423	chr1:175333543-175333544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112597404	chr1:175333544-175333545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568141797	chr1:175333560-175333561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78335686	chr1:175333583-175333584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61806383	chr1:175333689-175333690	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141951566	chr1:175333728-175333729	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192996152	chr1:175333760-175333761	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150675338	chr1:175333779-175333780	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553062258	chr1:175333860-175333861	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs567166115	chr1:175333880-175333881	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369937235	chr1:175333892-175333893	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185247594	chr1:175333902-175333903	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189732543	chr1:175333907-175333908	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs113997106	chr1:175333912-175333913	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556643656	chr1:175333919-175333920	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567765905	chr1:175333972-175333973	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545411592	chr1:175333982-175333983	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs559070703	chr1:175334063-175334064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368041150	chr1:175334178-175334179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139865233	chr1:175334183-175334184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200230612	chr1:175334187-175334188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143313777	chr1:175334216-175334217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537268734	chr1:175334252-175334253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371427528	chr1:175334299-175334300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140181210	chr1:175334309-175334310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144360664	chr1:175334326-175334327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550748074	chr1:175334339-175334340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201306618	chr1:175334357-175334358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372179881	chr1:175334404-175334405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141636585	chr1:175334409-175334410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368091549	chr1:175334413-175334414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375460488	chr1:175334414-175334415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570979448	chr1:175334425-175334426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533427894	chr1:175334428-175334429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369437637	chr1:175334432-175334433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201556130	chr1:175334434-175334435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116467052	chr1:175334450-175334451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369446372	chr1:175334451-175334452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530677890	chr1:175334496-175334497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536190044	chr1:175334549-175334550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192872258	chr1:175334594-175334595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
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
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
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
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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175284200-175343000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:175288800-175343200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:175288800-175343200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:175319400-175340000	Weak transcription	Fetal Brain Female	brain
5	chr1:175321800-175336600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:175329000-175335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:175331400-175335000	Weak transcription	Placenta	Placenta
8	chr1:175331400-175343200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:175332200-175333600	Enhancers	GM12878-XiMat	blood
10	chr1:175332600-175336800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:175332600-175343000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:175333200-175343200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:175333600-175334000	Flanking Active TSS	GM12878-XiMat	blood
14	chr1:175334000-175334800	Enhancers	GM12878-XiMat	blood
15	chr1:175335000-175340200	Enhancers	Placenta	Placenta
16	chr1:175335400-175337200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:175336200-175336800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:175336200-175337000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:175336600-175336800	Enhancers	Psoas Muscle	Psoas
20	chr1:175336600-175337200	Enhancers	Fetal Heart	heart
21	chr1:175336800-175337200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:175337200-175337600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:175337600-175338800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:175338200-175339800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr1:175338600-175339200	Enhancers	Fetal Intestine Large	intestine
26	chr1:175338800-175341000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:175339600-175340200	Enhancers	Fetal Brain Male	brain
28	chr1:175340000-175340200	Enhancers	Fetal Brain Female	brain
29	chr1:175340200-175343000	Weak transcription	Placenta	Placenta
30	chr1:175340200-175343200	Weak transcription	Fetal Brain Male	brain
31	chr1:175340400-175340600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:175340600-175341200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:175340800-175341400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:175341000-175341800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:175341000-175341800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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