Variant report

Variant	esv3368643
Chromosome Location	chr8:91695076-91698974
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91656308..91659290-chr8:91694293..91696671,3	MCF-7	breast:
2	chr8:91657081..91659555-chr8:91692442..91695453,3	K562	blood:
3	chr8:91652169..91654028-chr8:91698689..91701594,2	MCF-7	breast:
4	chr8:91632919..91634479-chr8:91696741..91698675,2	MCF-7	breast:
5	chr8:91655961..91659913-chr8:91697811..91701494,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-122A3.2.1-1	chr8:91696179-91696258	NONHSAT127662
2	lnc-RP11-122A3.2.1-1	chr8:91696044-91696258	NONHSAT127661

No data

Variant related genes	Relation type
ENSG00000246792	chromatin interactions
ENSG00000180694	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373716507	chr8:91695117-91695118	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569702796	chr8:91695122-91695123	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530520898	chr8:91695150-91695151	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs111622092	chr8:91695182-91695183	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117246712	chr8:91695191-91695192	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146662632	chr8:91695223-91695224	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140101201	chr8:91695228-91695229	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191472712	chr8:91695242-91695243	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537314078	chr8:91695253-91695254	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370808366	chr8:91695272-91695273	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535612180	chr8:91695288-91695289	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs556881975	chr8:91695308-91695309	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576565782	chr8:91695329-91695330	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs199747398	chr8:91695330-91695331	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7017260	chr8:91695333-91695334	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372928516	chr8:91695346-91695347	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77948979	chr8:91695355-91695356	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377403386	chr8:91695380-91695381	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs137993634	chr8:91695397-91695398	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559961256	chr8:91695398-91695399	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530346572	chr8:91695401-91695402	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182452869	chr8:91695427-91695428	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149500616	chr8:91695428-91695429	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs60218186	chr8:91695433-91695434	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138854231	chr8:91695451-91695452	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570249422	chr8:91695475-91695476	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113465194	chr8:91695478-91695479	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528045766	chr8:91695486-91695487	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs61425241	chr8:91695487-91695488	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546301498	chr8:91695504-91695505	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568298944	chr8:91695517-91695518	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs59321648	chr8:91695535-91695536	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370147198	chr8:91695543-91695544	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574156057	chr8:91695569-91695570	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs113858958	chr8:91695624-91695625	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557264141	chr8:91695625-91695626	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs57429447	chr8:91695634-91695635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533672574	chr8:91695638-91695639	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539672119	chr8:91695657-91695658	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559077514	chr8:91695681-91695682	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577429124	chr8:91695747-91695748	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs541386560	chr8:91695879-91695880	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs57280257	chr8:91695882-91695883	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs60962323	chr8:91695893-91695894	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562919098	chr8:91695934-91695935	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs553093156	chr8:91695962-91695963	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs187359576	chr8:91695967-91695968	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200539019	chr8:91696105-91696106	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs542147253	chr8:91696126-91696127	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs539482047	chr8:91696167-91696168	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91691600-91695600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:91691600-91696000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:91691600-91696400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:91691600-91696400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:91691600-91696400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:91692200-91698600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:91692400-91695200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:91692400-91698000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:91692600-91696600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:91692800-91706400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:91693000-91696200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:91694200-91696200	Enhancers	HepG2	liver
13	chr8:91694600-91698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:91695000-91697200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:91695000-91699600	Weak transcription	NHDF-Ad	bronchial
16	chr8:91695000-91709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:91695200-91695600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:91695600-91696000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:91695600-91696200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:91695800-91696200	Enhancers	A549	lung
21	chr8:91696000-91696200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:91696000-91696400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:91696200-91698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:91696200-91698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:91696200-91698000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:91696400-91696800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:91696400-91697000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:91696400-91698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:91696400-91698000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:91696600-91697000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:91696800-91697000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:91697000-91697400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr8:91697000-91697400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:91697000-91698000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:91697200-91697400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:91697400-91697800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:91697400-91698000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:91697400-91699400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:91697400-91704400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:91697800-91698800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:91698000-91698200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:91698000-91698400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr8:91698000-91698400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr8:91698000-91698600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:91698000-91698800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:91698000-91698800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr8:91698000-91699000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:91698000-91699400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:91698000-91699400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:91698200-91698400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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