Variant report

Variant	esv1813750
Chromosome Location	chr8:54471135-54528984
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54500348..54501242-chr8:54721022..54722166,3	K562	blood:
2	chr8:54500891..54501616-chr8:54619259..54619767,2	MCF-7	breast:
3	chr8:54482970..54485884-chr8:54754833..54757181,2	MCF-7	breast:
4	chr8:54398934..54399799-chr8:54484729..54485345,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1H-6	chr8:54474642-54474950	l_3595_chr8:54474263-54476685_ovary
2	lnc-ATP6V1H-6	chr8:54474264-54474610	l_3595_chr8:54474263-54476685_ovary
3	lnc-ATP6V1H-6	chr8:54476593-54476685	l_3595_chr8:54474263-54476685_ovary

No data

Variant related genes	Relation type
ENSG00000047249	chromatin interactions

Extended variants
information (count: 1746 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1746 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374889417	chr8:54471602-54471603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543590453	chr8:54471633-54471634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187378771	chr8:54471636-54471637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542899743	chr8:54471653-54471654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547603936	chr8:54471668-54471669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572883349	chr8:54471678-54471679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76169056	chr8:54471683-54471684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565054899	chr8:54471696-54471697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530994875	chr8:54471744-54471745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117016483	chr8:54471793-54471794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561531472	chr8:54471814-54471815	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530366606	chr8:54471823-54471824	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115095564	chr8:54471829-54471830	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368577532	chr8:54471830-54471831	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371369065	chr8:54471914-54471915	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372972510	chr8:54471982-54471983	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193112228	chr8:54472016-54472017	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs376398785	chr8:54472025-54472026	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs114130076	chr8:54472093-54472094	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs183930682	chr8:54472097-54472098	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs563783734	chr8:54472100-54472101	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs73680464	chr8:54472119-54472120	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs556921176	chr8:54472129-54472130	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs567440518	chr8:54472173-54472174	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs13263182	chr8:54472179-54472180	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78673160	chr8:54472183-54472184	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs572769327	chr8:54472236-54472237	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs559744874	chr8:54472244-54472245	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs4873759	chr8:54472250-54472251	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs57716093	chr8:54472290-54472291	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs575696836	chr8:54472299-54472300	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs544682872	chr8:54472330-54472331	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs561356109	chr8:54472346-54472347	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs187680126	chr8:54472378-54472379	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs4873255	chr8:54472399-54472400	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560780430	chr8:54472405-54472406	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs532811129	chr8:54472482-54472483	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs564167300	chr8:54472552-54472553	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs551397976	chr8:54472572-54472573	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs146159235	chr8:54472581-54472582	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs192700856	chr8:54472633-54472634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533134416	chr8:54472732-54472733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530555594	chr8:54472746-54472747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140104809	chr8:54472754-54472755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567223827	chr8:54472757-54472758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536465527	chr8:54472774-54472775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546349283	chr8:54472814-54472815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149827523	chr8:54472836-54472837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375288867	chr8:54472847-54472848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549637375	chr8:54472848-54472849	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54471600-54472600	Enhancers	Fetal Muscle Leg	muscle
2	chr8:54471800-54472400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:54471800-54472600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr8:54472000-54472800	Enhancers	Esophagus	oesophagus
5	chr8:54472400-54472600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:54472400-54472800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:54472600-54473000	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:54474600-54475000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:54476800-54478200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:54477000-54477400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:54477000-54477600	Enhancers	Colon Smooth Muscle	Colon
12	chr8:54477400-54477800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:54486200-54486600	Enhancers	Esophagus	oesophagus
14	chr8:54486200-54486600	Enhancers	Pancreas	Pancrea
15	chr8:54492600-54495800	Enhancers	HUVEC	blood vessel
16	chr8:54494400-54495000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:54494400-54495200	Enhancers	Fetal Kidney	kidney
18	chr8:54495000-54496600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:54496600-54496800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:54496800-54500200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:54497400-54497600	Enhancers	Aorta	Aorta
22	chr8:54499600-54499800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:54499800-54500800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:54500000-54501400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:54500200-54501000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:54500200-54501000	Enhancers	Fetal Heart	heart
27	chr8:54500200-54501200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:54500200-54501200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:54500200-54501200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:54500200-54501200	Enhancers	HSMMtube	muscle
31	chr8:54500200-54501400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:54500400-54500800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:54500400-54500800	Weak transcription	Aorta	Aorta
34	chr8:54500400-54501200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:54500400-54501200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:54500400-54501200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:54500600-54501200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:54500600-54501200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:54500600-54501200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:54500600-54501200	Enhancers	Fetal Lung	lung
41	chr8:54500800-54501000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:54500800-54501000	Enhancers	Adipose Nuclei	Adipose
43	chr8:54500800-54501000	Enhancers	Fetal Muscle Leg	muscle
44	chr8:54500800-54501000	Enhancers	Pancreas	Pancrea
45	chr8:54500800-54501200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:54500800-54501200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:54500800-54501200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:54500800-54501200	Enhancers	Aorta	Aorta
49	chr8:54500800-54501200	Enhancers	Ovary	ovary
50	chr8:54500800-54501200	Enhancers	GM12878-XiMat	blood

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