Variant report

Variant	nsv528919
Chromosome Location	chr10:6343315-6352975
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6348091..6350506-chr10:6353125..6355879,3	MCF-7	breast:
2	chr10:6339437..6341250-chr10:6341763..6343524,3	MCF-7	breast:
3	chr10:6339890..6341669-chr10:6345172..6346790,2	MCF-7	breast:
4	chr10:6351716..6354358-chr10:6354404..6356505,2	MCF-7	breast:
5	chr10:6316454..6323166-chr10:6337458..6343783,14	MCF-7	breast:
6	chr10:6240895..6249179-chr10:6337425..6345825,48	MCF-7	breast:
7	chr10:6245398..6245952-chr10:6348848..6349696,2	K562	blood:
8	chr10:6342449..6344753-chr10:6350540..6352238,2	K562	blood:
9	chr10:6338687..6345306-chr10:6353335..6358938,10	MCF-7	breast:
10	chr10:6341160..6345288-chr10:6356730..6359741,4	MCF-7	breast:
11	chr10:6243492..6246409-chr10:6345954..6348805,3	MCF-7	breast:
12	chr10:6242967..6247217-chr10:6336875..6343685,22	MCF-7	breast:
13	chr10:6342449..6344753-chr10:6350540..6352238,2	K562	blood:
14	chr10:6339849..6343647-chr10:6369137..6372590,4	MCF-7	breast:
15	chr10:6338433..6344348-chr10:6402915..6408706,10	MCF-7	breast:
16	chr10:6243246..6245035-chr10:6341115..6343745,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215244	chromatin interactions
ENSG00000213994	chromatin interactions
ENSG00000170525	chromatin interactions

Extended variants
information (count: 404 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7083971	chr10:6343315-6343316	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533574906	chr10:6343320-6343321	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs551955840	chr10:6343335-6343336	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs146945603	chr10:6343358-6343359	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs534024456	chr10:6343459-6343460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs555763806	chr10:6343589-6343590	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2146899	chr10:6343599-6343600	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567532121	chr10:6343605-6343606	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541296558	chr10:6343629-6343630	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs538212820	chr10:6343774-6343775	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs556855918	chr10:6343871-6343872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575157724	chr10:6343876-6343877	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191250840	chr10:6343891-6343892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141956234	chr10:6343934-6343935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374973146	chr10:6343982-6343983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182337101	chr10:6343999-6344000	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577756409	chr10:6344023-6344024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs34368247	chr10:6344024-6344025	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs397755652	chr10:6344035-6344036	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551341671	chr10:6344063-6344064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs57256595	chr10:6344075-6344076	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148268531	chr10:6344092-6344093	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544186413	chr10:6344121-6344122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563178954	chr10:6344132-6344133	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186955650	chr10:6344184-6344185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs111432951	chr10:6344219-6344220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs567052625	chr10:6344230-6344231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs527812713	chr10:6344237-6344238	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs77852628	chr10:6344324-6344325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77396212	chr10:6344325-6344326	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs11598803	chr10:6344330-6344331	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12049767	chr10:6344332-6344333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12049768	chr10:6344342-6344343	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs60143547	chr10:6344353-6344354	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs71391811	chr10:6344359-6344360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7906539	chr10:6344410-6344411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11598835	chr10:6344434-6344435	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556095032	chr10:6344491-6344492	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568858685	chr10:6344549-6344550	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539339886	chr10:6344588-6344589	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373828577	chr10:6344678-6344679	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201110393	chr10:6344711-6344712	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs202152894	chr10:6344712-6344713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs148364293	chr10:6344713-6344714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs200355338	chr10:6344714-6344715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7906984	chr10:6344742-6344743	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537377634	chr10:6344743-6344744	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138965027	chr10:6344744-6344745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113339419	chr10:6344747-6344748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377552819	chr10:6344752-6344753	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6338400-6344000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:6338600-6343800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:6338800-6343800	Enhancers	Stomach Mucosa	stomach
4	chr10:6338800-6345000	Enhancers	Fetal Intestine Small	intestine
5	chr10:6339000-6343800	Enhancers	Lung	lung
6	chr10:6339200-6345200	Enhancers	Fetal Intestine Large	intestine
7	chr10:6339600-6343800	Enhancers	Primary B cells from peripheral blood	blood
8	chr10:6339600-6346400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr10:6340200-6343400	Weak transcription	Fetal Kidney	kidney
10	chr10:6340200-6349000	Weak transcription	Adipose Nuclei	Adipose
11	chr10:6341200-6343400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:6341600-6343400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr10:6341800-6343800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr10:6341800-6344200	Enhancers	A549	lung
15	chr10:6342000-6343800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:6342000-6343800	Enhancers	Fetal Lung	lung
17	chr10:6342200-6344800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:6342400-6343400	Flanking Active TSS	GM12878-XiMat	blood
19	chr10:6342600-6343800	Weak transcription	NHEK	skin
20	chr10:6342600-6349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:6342800-6343400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:6342800-6343400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr10:6342800-6343400	Enhancers	Duodenum Mucosa	Duodenum
24	chr10:6342800-6343800	Enhancers	Pancreas	Pancrea
25	chr10:6342800-6353200	Weak transcription	Aorta	Aorta
26	chr10:6342800-6356600	Weak transcription	Brain Substantia Nigra	brain
27	chr10:6343000-6343600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:6343000-6343600	Weak transcription	Gastric	stomach
29	chr10:6343000-6343600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:6343000-6343800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:6343000-6346200	Weak transcription	Small Intestine	intestine
32	chr10:6343000-6348400	Enhancers	Primary B cells from cord blood	blood
33	chr10:6343200-6343400	Enhancers	Dnd41	blood
34	chr10:6343200-6346400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr10:6343200-6347600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:6343200-6348000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr10:6343400-6343600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr10:6343400-6343800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr10:6343400-6343800	Enhancers	Fetal Kidney	kidney
40	chr10:6343400-6343800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr10:6343400-6343800	Enhancers	GM12878-XiMat	blood
42	chr10:6343600-6343800	Enhancers	Liver	Liver
43	chr10:6343600-6343800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr10:6343600-6343800	Enhancers	Gastric	stomach
45	chr10:6343600-6343800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr10:6343800-6344000	Enhancers	NHEK	skin
47	chr10:6343800-6344800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr10:6343800-6344800	Weak transcription	Liver	Liver
49	chr10:6343800-6345200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr10:6343800-6346000	Weak transcription	Pancreas	Pancrea

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