Variant report

Variant	nsv968503
Chromosome Location	chr8:8429745-8437201
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8422238..8425021-chr8:8428768..8430499,2	MCF-7	breast:
2	chr8:8424041..8426477-chr8:8428202..8430360,2	K562	blood:
3	chr8:8241776..8244765-chr8:8431330..8433692,2	MCF-7	breast:
4	chr8:8431429..8434026-chr8:8436657..8439955,3	MCF-7	breast:
5	chr8:8426650..8428995-chr8:8432055..8433956,2	MCF-7	breast:
6	chr8:8431429..8434026-chr8:8436657..8439955,3	MCF-7	breast:
7	chr8:8430219..8432230-chr8:8438202..8440679,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLDN23-1	chr8:8431228-8435105	NONHSAT124878

No data

Variant related genes	Relation type
ENSG00000263616	chromatin interactions
ENSG00000182319	chromatin interactions

Extended variants
information (count: 357 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558390695	chr8:8429747-8429748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138534334	chr8:8429831-8429832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544012630	chr8:8429851-8429852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538255710	chr8:8429862-8429863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149617755	chr8:8429864-8429865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538987726	chr8:8429917-8429918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529361396	chr8:8429960-8429961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559245853	chr8:8429962-8429963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55646688	chr8:8429978-8429979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527593190	chr8:8430012-8430013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547255248	chr8:8430021-8430022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143319099	chr8:8430028-8430029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372198976	chr8:8430077-8430078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186819841	chr8:8430085-8430086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569771588	chr8:8430093-8430094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575052929	chr8:8430114-8430115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148331083	chr8:8430115-8430116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565496956	chr8:8430116-8430117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10092288	chr8:8430125-8430126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs369161470	chr8:8430128-8430129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558519796	chr8:8430171-8430172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141451504	chr8:8430181-8430182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544072683	chr8:8430183-8430184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557271944	chr8:8430189-8430190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10092416	chr8:8430216-8430217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574083076	chr8:8430225-8430226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10088924	chr8:8430243-8430244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191280985	chr8:8430285-8430286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113911907	chr8:8430297-8430298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376772762	chr8:8430320-8430321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs73519670	chr8:8430321-8430322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564073933	chr8:8430332-8430333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533046956	chr8:8430353-8430354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112729718	chr8:8430375-8430376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569701391	chr8:8430405-8430406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4840992	chr8:8430406-8430407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184965797	chr8:8430413-8430414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200229426	chr8:8430446-8430447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11379741	chr8:8430447-8430448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377696373	chr8:8430457-8430458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs397735416	chr8:8430461-8430462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4840346	chr8:8430472-8430473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs565689187	chr8:8430482-8430483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534641742	chr8:8430498-8430499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547253251	chr8:8430508-8430509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375822535	chr8:8430537-8430538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs80281361	chr8:8430543-8430544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568220950	chr8:8430567-8430568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189479361	chr8:8430590-8430591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557541825	chr8:8430592-8430593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8422200-8432000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:8422400-8430200	Weak transcription	Osteobl	bone
3	chr8:8422600-8430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:8423200-8430600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:8426600-8430400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:8426600-8433000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:8426800-8430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:8427200-8431800	Weak transcription	A549	lung
9	chr8:8428800-8433000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:8429200-8429800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:8429200-8429800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:8429200-8432000	Enhancers	Placenta	Placenta
13	chr8:8429600-8430800	Enhancers	Hela-S3	cervix
14	chr8:8429600-8440000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:8429600-8440000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:8429800-8430000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:8429800-8432200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:8430000-8431000	Enhancers	NHDF-Ad	bronchial
19	chr8:8430000-8431000	Enhancers	NHEK	skin
20	chr8:8430000-8431400	Enhancers	HMEC	breast
21	chr8:8430200-8431000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:8430200-8431000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:8430200-8431000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:8430200-8431000	Enhancers	NH-A	brain
25	chr8:8430200-8431000	Enhancers	Osteobl	bone
26	chr8:8430200-8431800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:8430400-8430800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:8430400-8431000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:8430400-8431000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:8430600-8430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:8430600-8431000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:8430600-8431000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:8430600-8432000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:8430800-8433200	Weak transcription	Hela-S3	cervix
35	chr8:8431000-8432800	Weak transcription	NHEK	skin
36	chr8:8431000-8433000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:8431000-8433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:8431000-8433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:8431000-8434800	Weak transcription	Osteobl	bone
40	chr8:8431000-8435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:8431800-8432000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:8431800-8432000	Enhancers	NHLF	lung
43	chr8:8431800-8432200	Enhancers	A549	lung
44	chr8:8432000-8432400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:8432000-8432400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:8432000-8432400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:8432000-8433000	Weak transcription	Placenta	Placenta
48	chr8:8432000-8435600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:8432000-8444800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:8432200-8432600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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