Variant report

Variant	esv2764232
Chromosome Location	chr1:175387997-175504394
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:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:175120874..175121520-chr1:175449995..175450848,2	MCF-7	breast:
2	chr1:175450058..175450683-chr1:175793398..175794082,2	MCF-7	breast:
3	chr1:175449652..175450434-chr1:175792990..175793754,2	K562	blood:
4	chr1:175390243..175393050-chr1:175397124..175399268,3	K562	blood:
5	chr1:175345040..175345864-chr1:175500665..175501444,2	MCF-7	breast:
6	chr1:175474623..175477393-chr1:175480380..175482566,2	MCF-7	breast:
7	chr1:175342681..175343454-chr1:175450088..175451392,6	MCF-7	breast:
8	chr1:175479902..175482193-chr1:175482223..175485139,2	K562	blood:
9	chr1:175345069..175346055-chr1:175402795..175404096,6	K562	blood:
10	chr1:175502104..175504991-chr1:175505616..175508224,2	MCF-7	breast:
11	chr1:175342881..175343605-chr1:175403112..175404017,3	MCF-7	breast:
12	chr1:175390243..175393050-chr1:175397124..175399268,3	K562	blood:
13	chr1:175390294..175392332-chr1:175415075..175416817,2	K562	blood:
14	chr1:175120985..175121765-chr1:175450538..175451369,3	MCF-7	breast:
15	chr1:175450010..175450941-chr1:175813865..175814693,2	MCF-7	breast:
16	chr1:175343089..175343675-chr1:175403109..175404076,4	K562	blood:
17	chr1:175439998..175440746-chr20:52740037..52740572,2	MCF-7	breast:
18	chr1:175413171..175415246-chr1:175435464..175437711,2	MCF-7	breast:
19	chr1:175450451..175451287-chr1:175647331..175647999,2	MCF-7	breast:
20	chr1:175437981..175439964-chr1:175464237..175467168,2	K562	blood:
21	chr1:175385466..175387287-chr1:175390575..175392288,2	K562	blood:
22	chr1:175437981..175439964-chr1:175464237..175467168,2	K562	blood:
23	chr1:175479902..175482193-chr1:175482223..175485139,2	K562	blood:
24	chr1:175450085..175451047-chr1:175712257..175712999,4	MCF-7	breast:
25	chr1:175345040..175345574-chr1:175450603..175451457,2	MCF-7	breast:
26	chr1:175474623..175477393-chr1:175480380..175482566,2	MCF-7	breast:
27	chr1:175390294..175392332-chr1:175415075..175416817,2	K562	blood:
28	chr1:175413171..175415246-chr1:175435464..175437711,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNR-3	chr1:175497405-175497505	NONHSAT007755

No data

Variant related genes	Relation type
ENSG00000116147	chromatin interactions

Extended variants
information (count: 4457 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:4457 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs859473	chr1:175387997-175387998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536702520	chr1:175388023-175388024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374467361	chr1:175388028-175388029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142875005	chr1:175388033-175388034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377740563	chr1:175388054-175388055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566326570	chr1:175388112-175388113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527832050	chr1:175388153-175388154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576485960	chr1:175388177-175388178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150654307	chr1:175388224-175388225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530787768	chr1:175388247-175388248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189203172	chr1:175388316-175388317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139902155	chr1:175388423-175388424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541617393	chr1:175388446-175388447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144892009	chr1:175388454-175388455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192407195	chr1:175388460-175388461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548638702	chr1:175388483-175388484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57283640	chr1:175388493-175388494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184619665	chr1:175388526-175388527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147952526	chr1:175388558-175388559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551427109	chr1:175388568-175388569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76349295	chr1:175388575-175388576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141886181	chr1:175388581-175388582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547576362	chr1:175388587-175388588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs859474	chr1:175388626-175388627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536566948	chr1:175388629-175388630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539672366	chr1:175388680-175388681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564439868	chr1:175388704-175388705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556681311	chr1:175388713-175388714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370008405	chr1:175388719-175388720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188891422	chr1:175388722-175388723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558631986	chr1:175388759-175388760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533201029	chr1:175388769-175388770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144196826	chr1:175388779-175388780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145466612	chr1:175388780-175388781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545074074	chr1:175388783-175388784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554766384	chr1:175388809-175388810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574668659	chr1:175388835-175388836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542346912	chr1:175388846-175388847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369134507	chr1:175388855-175388856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562234062	chr1:175388907-175388908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531255042	chr1:175388908-175388909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs859475	chr1:175388921-175388922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375366782	chr1:175388938-175388939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564683478	chr1:175388941-175388942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148838356	chr1:175388988-175388989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547685094	chr1:175388989-175388990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116225780	chr1:175389018-175389019	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143509805	chr1:175389026-175389027	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73045439	chr1:175389034-175389035	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12743133	chr1:175389045-175389046	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175370000-175390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175385000-175390200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:175388800-175389000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:175388800-175389000	Enhancers	Fetal Intestine Large	intestine
5	chr1:175388800-175389800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:175388800-175393000	Enhancers	Fetal Intestine Small	intestine
7	chr1:175389000-175389400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:175389000-175389400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:175389000-175389400	Flanking Active TSS	Fetal Intestine Large	intestine
10	chr1:175389000-175389400	Enhancers	Placenta	Placenta
11	chr1:175389000-175389600	Flanking Active TSS	Hela-S3	cervix
12	chr1:175389000-175389600	Enhancers	HMEC	breast
13	chr1:175389000-175389800	Enhancers	NHEK	skin
14	chr1:175389200-175389400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr1:175389400-175389800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:175389400-175390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:175389400-175394000	Enhancers	Fetal Intestine Large	intestine
18	chr1:175389600-175389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:175389600-175390400	Enhancers	Hela-S3	cervix
20	chr1:175389800-175390600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:175389800-175390800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:175390200-175390400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:175390200-175390600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:175390200-175390600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:175390200-175390600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:175390200-175391000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:175390200-175391000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:175390400-175391800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:175390600-175391800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:175394000-175395200	Weak transcription	Fetal Intestine Large	intestine
31	chr1:175395400-175395600	Enhancers	Fetal Intestine Large	intestine
32	chr1:175395400-175395600	Enhancers	Gastric	stomach
33	chr1:175399600-175400000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:175399600-175401000	Enhancers	Fetal Heart	heart
35	chr1:175400000-175413800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:175401200-175401400	Enhancers	Fetal Brain Male	brain
37	chr1:175401400-175402400	Weak transcription	Fetal Brain Male	brain
38	chr1:175402200-175403800	Enhancers	Fetal Stomach	stomach
39	chr1:175402400-175403000	Enhancers	Fetal Kidney	kidney
40	chr1:175402400-175403800	Enhancers	Fetal Brain Male	brain
41	chr1:175403000-175403200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr1:175403000-175404400	Weak transcription	Fetal Kidney	kidney
43	chr1:175403400-175403600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:175403400-175403600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:175404400-175404600	ZNF genes & repeats	Fetal Kidney	kidney
46	chr1:175410800-175411600	Enhancers	Fetal Brain Male	brain
47	chr1:175411600-175414800	Weak transcription	Fetal Brain Male	brain
48	chr1:175412400-175413600	Enhancers	GM12878-XiMat	blood
49	chr1:175413600-175417800	Weak transcription	GM12878-XiMat	blood
50	chr1:175413800-175414000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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