Variant report

Variant	esv2757070
Chromosome Location	chr4:87075759-87138765
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87070864..87073086-chr4:87075454..87077437,2	K562	blood:
2	chr4:87074554..87076995-chr4:87081060..87082909,2	MCF-7	breast:
3	chr4:87118979..87120763-chr4:87124229..87126055,2	K562	blood:
4	chr4:87132187..87133769-chr4:87135857..87137593,2	MCF-7	breast:
5	chr4:87074554..87076995-chr4:87081060..87082909,2	MCF-7	breast:
6	chr4:87079015..87081853-chr4:87083542..87085468,2	K562	blood:
7	chr4:87079015..87081853-chr4:87083542..87085468,2	K562	blood:
8	chr4:87070864..87072590-chr4:87074186..87076954,2	K562	blood:
9	chr4:87118979..87120763-chr4:87124229..87126055,2	K562	blood:
10	chr4:87132187..87133769-chr4:87135857..87137593,2	MCF-7	breast:
11	chr4:87048655..87051037-chr4:87083679..87085994,2	MCF-7	breast:
12	chr4:87134159..87136485-chr4:87181961..87184950,2	MCF-7	breast:
13	chr4:87068101..87070840-chr4:87077987..87079819,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A6-4	chr4:87085599-87085718	NONHSAT097276
2	lnc-SLC10A6-4	chr4:87115489-87115560	NONHSAT097276
3	lnc-SLC10A6-4	chr4:87097140-87097232	NONHSAT097276

No data

Extended variants
information (count: 2199 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2199 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12639693	chr4:87075759-87075760	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551801728	chr4:87075764-87075765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558904562	chr4:87075791-87075792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561210637	chr4:87075808-87075809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375442767	chr4:87075810-87075811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115901263	chr4:87075820-87075821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538891216	chr4:87075845-87075846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554034141	chr4:87075861-87075862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572237420	chr4:87075887-87075888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11097094	chr4:87075920-87075921	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560848018	chr4:87075944-87075945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191503854	chr4:87075978-87075979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531087725	chr4:87076123-87076124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576084665	chr4:87076181-87076182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116056091	chr4:87076257-87076258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202019543	chr4:87076352-87076353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6822478	chr4:87076360-87076361	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370416014	chr4:87076414-87076415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374816791	chr4:87076425-87076426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532668013	chr4:87076579-87076580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567847694	chr4:87076608-87076609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548127074	chr4:87076615-87076616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74670438	chr4:87076616-87076617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145023722	chr4:87076617-87076618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147595829	chr4:87076647-87076648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182110194	chr4:87076669-87076670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570094638	chr4:87076688-87076689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187941465	chr4:87076750-87076751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113919108	chr4:87076764-87076765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111978821	chr4:87076780-87076781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371208198	chr4:87076784-87076785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116695872	chr4:87076996-87076997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570799567	chr4:87077002-87077003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538951524	chr4:87077058-87077059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193245898	chr4:87077075-87077076	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554144143	chr4:87077114-87077115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572348645	chr4:87077140-87077141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532289728	chr4:87077144-87077145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536498725	chr4:87077193-87077194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554738739	chr4:87077230-87077231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576065516	chr4:87077240-87077241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114267580	chr4:87077299-87077300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558289756	chr4:87077300-87077301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576393504	chr4:87077312-87077313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540607608	chr4:87077336-87077337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140768362	chr4:87077361-87077362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149685618	chr4:87077502-87077503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542069416	chr4:87077591-87077592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185362891	chr4:87077599-87077600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530932930	chr4:87077606-87077607	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87035800-87077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:87052000-87114200	Weak transcription	Ovary	ovary
3	chr4:87064800-87082000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:87066200-87082200	Weak transcription	Fetal Stomach	stomach
5	chr4:87067000-87082200	Weak transcription	Brain Angular Gyrus	brain
6	chr4:87069600-87081400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:87072800-87076800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:87072800-87077600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:87074200-87082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:87075000-87076400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr4:87075400-87080800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:87076400-87080200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:87076800-87078000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:87076800-87079000	Enhancers	Brain Substantia Nigra	brain
15	chr4:87076800-87079200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr4:87077000-87079000	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:87077400-87078000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:87077600-87078000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:87077600-87078000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:87077600-87078000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:87077600-87078000	Enhancers	Brain Anterior Caudate	brain
22	chr4:87077600-87078600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:87077600-87079200	Enhancers	Brain Hippocampus Middle	brain
24	chr4:87078000-87080800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:87078000-87082000	Weak transcription	Brain Anterior Caudate	brain
26	chr4:87078000-87086200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:87078000-87113400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:87078600-87082600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:87079000-87082000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:87079000-87082400	Weak transcription	Brain Substantia Nigra	brain
31	chr4:87079200-87080400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:87079200-87082400	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:87080400-87081000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr4:87080800-87085000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:87080800-87086600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:87081000-87081400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:87081400-87081800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:87081400-87083200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr4:87081600-87082200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:87081800-87082200	Enhancers	Osteobl	bone
41	chr4:87082000-87082400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:87082000-87082800	Enhancers	Brain Anterior Caudate	brain
43	chr4:87082000-87083200	Enhancers	Brain Cingulate Gyrus	brain
44	chr4:87082200-87082600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:87082200-87082800	Enhancers	Brain Angular Gyrus	brain
46	chr4:87082400-87082600	Enhancers	Brain Hippocampus Middle	brain
47	chr4:87082400-87083000	Enhancers	Brain Substantia Nigra	brain
48	chr4:87082600-87082800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:87083600-87084000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:87085000-87085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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