Variant report

Variant	esv3359466
Chromosome Location	chr8:102634176-102638574
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102630738..102634360-chr8:102636671..102639236,3	MCF-7	breast:
2	chr8:102505869..102508216-chr8:102632602..102635054,2	MCF-7	breast:
3	chr8:102614548..102616839-chr8:102636990..102639158,2	K562	blood:
4	chr8:102630738..102634360-chr8:102636671..102639236,3	MCF-7	breast:
5	chr11:11156906..11157406-chr8:102635479..102636016,2	K562	blood:
6	chr8:102618309..102622005-chr8:102635683..102639742,4	MCF-7	breast:
7	chr8:102632325..102634884-chr8:102636281..102637988,2	MCF-7	breast:
8	chr8:102626664..102629265-chr8:102631491..102634297,2	MCF-7	breast:
9	chr8:102609140..102610873-chr8:102634437..102637067,2	MCF-7	breast:
10	chr8:102503909..102508497-chr8:102637267..102642010,6	MCF-7	breast:
11	chr8:102618937..102621907-chr8:102637698..102639886,2	MCF-7	breast:
12	chr8:102632325..102634884-chr8:102636281..102637988,2	MCF-7	breast:
13	chr8:102629337..102631052-chr8:102635041..102637641,2	MCF-7	breast:
14	chr8:102503334..102507333-chr8:102630459..102637316,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	chromatin interactions
ENSG00000254957	chromatin interactions
ENSG00000083307	chromatin interactions

Extended variants
information (count: 199 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs183633705	chr8:102634178-102634179	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576336159	chr8:102634181-102634182	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs188143794	chr8:102634203-102634204	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181342323	chr8:102634230-102634231	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149538801	chr8:102634265-102634266	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562358166	chr8:102634301-102634302	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529660073	chr8:102634370-102634371	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111544943	chr8:102634382-102634383	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541965	chr8:102634497-102634498	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533586592	chr8:102634542-102634543	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186459974	chr8:102634567-102634568	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564232342	chr8:102634579-102634580	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191710846	chr8:102634580-102634581	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78421372	chr8:102634606-102634607	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148610562	chr8:102634641-102634642	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs534703610	chr8:102634681-102634682	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs117438904	chr8:102634704-102634705	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142082601	chr8:102634727-102634728	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182073326	chr8:102634764-102634765	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs186573097	chr8:102634769-102634770	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576521700	chr8:102634775-102634776	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537439423	chr8:102634818-102634819	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191040931	chr8:102634890-102634891	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574091475	chr8:102634898-102634899	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573770553	chr8:102634901-102634902	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368910361	chr8:102634911-102634912	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs541709248	chr8:102634930-102634931	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542766917	chr8:102634931-102634932	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560109533	chr8:102634951-102634952	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs578091686	chr8:102634973-102634974	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs183350406	chr8:102635007-102635008	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372154278	chr8:102635009-102635010	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564026029	chr8:102635012-102635013	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs531392690	chr8:102635022-102635023	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549477010	chr8:102635023-102635024	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs146209236	chr8:102635056-102635057	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs34355170	chr8:102635058-102635059	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186938411	chr8:102635062-102635063	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs62517383	chr8:102635063-102635064	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531681340	chr8:102635087-102635088	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565999141	chr8:102635100-102635101	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545315004	chr8:102635115-102635116	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539247399	chr8:102635234-102635235	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs551598580	chr8:102635266-102635267	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs569751786	chr8:102635269-102635270	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs10090010	chr8:102635270-102635271	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115578354	chr8:102635310-102635311	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114422640	chr8:102635315-102635316	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs144372928	chr8:102635318-102635319	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146611389	chr8:102635324-102635325	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:102616800-102643800	Weak transcription	Gastric	stomach
3	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:102620800-102637800	Weak transcription	HUVEC	blood vessel
6	chr8:102621200-102635800	Weak transcription	Pancreas	Pancrea
7	chr8:102623400-102635200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:102624200-102635400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:102624600-102635200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:102625400-102635400	Weak transcription	Esophagus	oesophagus
11	chr8:102625400-102635400	Weak transcription	HMEC	breast
12	chr8:102627600-102635800	Weak transcription	Fetal Kidney	kidney
13	chr8:102627800-102639000	Weak transcription	Stomach Mucosa	stomach
14	chr8:102627800-102643800	Weak transcription	Fetal Intestine Large	intestine
15	chr8:102628000-102635200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:102628200-102643600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:102630400-102644000	Weak transcription	Lung	lung
18	chr8:102630800-102641600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:102630800-102642800	Weak transcription	Fetal Stomach	stomach
20	chr8:102631400-102635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:102631400-102635800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:102631600-102637000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:102631800-102637600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr8:102632200-102634200	Strong transcription	NHEK	skin
25	chr8:102632400-102638800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:102632600-102635000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:102632600-102635400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:102633000-102634600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:102633000-102635000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:102633000-102635000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:102633000-102635400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:102633200-102634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:102633200-102634800	Weak transcription	Placenta	Placenta
34	chr8:102633200-102635200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:102633400-102635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:102634200-102635000	Weak transcription	NHEK	skin
37	chr8:102634600-102637200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:102634800-102636800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:102634800-102636800	Strong transcription	Placenta	Placenta
40	chr8:102635000-102636400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:102635000-102636400	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr8:102635000-102636800	Strong transcription	NHEK	skin
43	chr8:102635000-102637400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:102635200-102636200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:102635200-102636600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:102635200-102636600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:102635200-102636800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr8:102635200-102636800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:102635200-102637000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:102635400-102635800	Weak transcription	Fetal Lung	lung

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