Variant report

Variant	esv3408396
Chromosome Location	chr1:175341429-175345727
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:175337824..175339919-chr1:175344039..175346439,2	K562	blood:
2	chr1:175342691..175343565-chr1:175792937..175793994,6	K562	blood:
3	chr1:175342881..175343605-chr1:175403112..175404017,3	MCF-7	breast:
4	chr1:175120938..175121807-chr1:175342792..175343567,3	MCF-7	breast:
5	chr1:175342845..175343536-chr1:176042614..176043335,2	MCF-7	breast:
6	chr1:175342681..175343454-chr1:175450088..175451392,6	MCF-7	breast:
7	chr1:175345069..175346055-chr1:175402795..175404096,6	K562	blood:
8	chr1:175343047..175343556-chr1:176042452..176042953,2	K562	blood:
9	chr1:175345136..175346799-chr1:175350217..175352737,2	K562	blood:
10	chr1:175342719..175343579-chr1:175856797..175857339,2	MCF-7	breast:
11	chr1:175343029..175343558-chr1:175712449..175713109,2	K562	blood:
12	chr1:175345132..175345957-chr1:175856980..175857603,2	K562	blood:
13	chr1:175345043..175345594-chr1:175712417..175713248,2	MCF-7	breast:
14	chr1:175345040..175345864-chr1:175500665..175501444,2	MCF-7	breast:
15	chr1:175345039..175345551-chr1:175793110..175793983,2	K562	blood:
16	chr1:175343089..175343675-chr1:175403109..175404076,4	K562	blood:
17	chr1:175345040..175345574-chr1:175450603..175451457,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116147	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs140467690	chr1:175341503-175341504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142272696	chr1:175341525-175341526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16848353	chr1:175341548-175341549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs144391688	chr1:175341607-175341608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539499830	chr1:175341642-175341643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543756391	chr1:175341674-175341675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147411508	chr1:175341677-175341678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566464737	chr1:175341680-175341681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139196746	chr1:175341688-175341689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528902414	chr1:175341708-175341709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180970257	chr1:175341782-175341783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548998923	chr1:175341800-175341801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6675015	chr1:175341821-175341822	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544091246	chr1:175341846-175341847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571067859	chr1:175341894-175341895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578053370	chr1:175341902-175341903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540713745	chr1:175341905-175341906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373146449	chr1:175341907-175341908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34398181	chr1:175341954-175341955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560344316	chr1:175341988-175341989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34328521	chr1:175342054-175342055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149960570	chr1:175342089-175342090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528160817	chr1:175342154-175342155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542584294	chr1:175342185-175342186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372986232	chr1:175342240-175342241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562862123	chr1:175342245-175342246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531870819	chr1:175342248-175342249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551717952	chr1:175342270-175342271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186018305	chr1:175342273-175342274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192009131	chr1:175342275-175342276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546682106	chr1:175342277-175342278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377555235	chr1:175342279-175342280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547458085	chr1:175342297-175342298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535464613	chr1:175342334-175342335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375113896	chr1:175342348-175342349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561396562	chr1:175342350-175342351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183934293	chr1:175342353-175342354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369900333	chr1:175342374-175342375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188380042	chr1:175342380-175342381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35799385	chr1:175342389-175342390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538120311	chr1:175342416-175342417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557710726	chr1:175342418-175342419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577777667	chr1:175342435-175342436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116366426	chr1:175342446-175342447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190329743	chr1:175342467-175342468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12730963	chr1:175342485-175342486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs372587847	chr1:175342526-175342527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542649631	chr1:175342546-175342547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182844848	chr1:175342561-175342562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2236880	chr1:175342583-175342584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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

Chromatin state (count:63 , 50 per page) page: 1 2

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	chr1:175331400-175343200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:175332600-175343000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:175333200-175343200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:175340200-175343000	Weak transcription	Placenta	Placenta
8	chr1:175340200-175343200	Weak transcription	Fetal Brain Male	brain
9	chr1:175341000-175341800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:175341000-175341800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:175341200-175341600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:175341200-175341600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:175341200-175341800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:175341200-175341800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:175341200-175341800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:175341200-175341800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:175341200-175342000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:175341200-175342200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:175341400-175341800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:175341600-175342000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:175341600-175342800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:175341800-175342800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:175341800-175343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:175341800-175343200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:175342800-175343000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:175342800-175343000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:175342800-175343000	Weak transcription	Right Atrium	heart
28	chr1:175343000-175343200	Enhancers	Adipose Nuclei	Adipose
29	chr1:175343000-175343200	Strong transcription	Right Atrium	heart
30	chr1:175343000-175343400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:175343000-175343400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr1:175343000-175343400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr1:175343000-175343400	Enhancers	Placenta	Placenta
34	chr1:175343000-175343400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr1:175343000-175343400	Enhancers	Lung	lung
36	chr1:175343000-175343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:175343000-175343600	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:175343000-175343600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:175343000-175343600	Enhancers	Pancreas	Pancrea
40	chr1:175343000-175343600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:175343000-175343600	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:175343200-175343400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:175343200-175343400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:175343200-175343400	Enhancers	Brain Angular Gyrus	brain
45	chr1:175343200-175343400	Enhancers	Brain Hippocampus Middle	brain
46	chr1:175343200-175343600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:175343200-175343600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:175343200-175343600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr1:175343200-175343600	Enhancers	Brain Anterior Caudate	brain
50	chr1:175343200-175343600	Enhancers	Brain Inferior Temporal Lobe	brain

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