Variant report

Variant	nsv894785
Chromosome Location	chr10:4306421-4372629
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:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4322899..4325604-chr10:4329174..4330972,3	MCF-7	breast:
2	chr10:4322899..4325604-chr10:4329174..4330972,3	MCF-7	breast:
3	chr10:4366262..4369168-chr10:4369622..4372487,4	MCF-7	breast:
4	chr10:3332143..3332822-chr10:4321742..4322501,2	MCF-7	breast:
5	chr10:4311023..4313207-chr10:4318720..4320518,2	K562	blood:
6	chr10:4232879..4234398-chr10:4321795..4324603,2	MCF-7	breast:
7	chr10:3827486..3828068-chr10:4309220..4310177,2	MCF-7	breast:
8	chr10:3825089..3830045-chr10:4313155..4317076,5	MCF-7	breast:
9	chr10:4366262..4369168-chr10:4369622..4372487,4	MCF-7	breast:
10	chr10:4345271..4346802-chr10:4347547..4349820,2	MCF-7	breast:
11	chr10:4311326..4314084-chr10:4320615..4323215,2	MCF-7	breast:
12	chr10:4324123..4326920-chr10:4330780..4332390,2	K562	blood:
13	chr10:3823986..3829739-chr10:4306109..4310504,8	MCF-7	breast:
14	chr10:4345271..4346802-chr10:4347547..4349820,2	MCF-7	breast:
15	chr10:4170365..4172316-chr10:4322695..4325438,2	MCF-7	breast:
16	chr10:4326364..4328633-chr10:4329094..4331140,3	MCF-7	breast:
17	chr10:4216133..4216654-chr10:4309278..4309857,2	MCF-7	breast:
18	chr10:3827811..3830194-chr10:4323572..4325399,2	K562	blood:
19	chr10:4311023..4313207-chr10:4318720..4320518,2	K562	blood:
20	chr10:4326364..4328633-chr10:4329094..4331140,3	MCF-7	breast:
21	chr10:3825342..3830573-chr10:4304925..4310190,7	MCF-7	breast:
22	chr10:3783756..3786334-chr10:4310563..4312608,2	MCF-7	breast:
23	chr10:4304386..4306768-chr10:4318241..4320361,3	MCF-7	breast:
24	chr10:4311326..4314084-chr10:4320615..4323215,2	MCF-7	breast:
25	chr10:4216162..4216808-chr10:4321557..4322150,2	MCF-7	breast:
26	chr10:4320010..4324018-chr10:4702839..4706546,5	MCF-7	breast:
27	chr10:3824995..3829736-chr10:4319547..4324748,15	MCF-7	breast:
28	chr10:4304386..4306768-chr10:4318241..4320361,3	MCF-7	breast:
29	chr10:4324123..4326920-chr10:4330780..4332390,2	K562	blood:
30	chr10:3735102..3736673-chr10:4321276..4322896,2	MCF-7	breast:
31	chr10:4319961..4321650-chr10:4382785..4384705,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1E2-10	chr10:4366577-4366686	l_240_chr10:4366576-4369036_testes
2	lnc-AKR1E2-10	chr10:4368556-4369036	l_240_chr10:4366576-4369036_testes

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 2988 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2988 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10904218	chr10:4306421-4306422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570823561	chr10:4306433-4306434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569603471	chr10:4306453-4306454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537259746	chr10:4306455-4306456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10904219	chr10:4306457-4306458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77952052	chr10:4306488-4306489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534590323	chr10:4306576-4306577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542891954	chr10:4306646-4306647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373530833	chr10:4306649-4306650	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552986231	chr10:4306651-4306652	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574115026	chr10:4306666-4306667	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1535449	chr10:4306671-4306672	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535432080	chr10:4306807-4306808	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557040284	chr10:4306926-4306927	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542687251	chr10:4306943-4306944	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556766515	chr10:4306946-4306947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546418264	chr10:4306952-4306953	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1923394	chr10:4307011-4307012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs181809923	chr10:4307043-4307044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185910514	chr10:4307057-4307058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562339563	chr10:4307098-4307099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149035252	chr10:4307116-4307117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191082188	chr10:4307133-4307134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563435255	chr10:4307241-4307242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530515981	chr10:4307246-4307247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545160721	chr10:4307271-4307272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143002816	chr10:4307306-4307307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565257849	chr10:4307317-4307318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576323919	chr10:4307318-4307319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572380834	chr10:4307336-4307337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148224617	chr10:4307342-4307343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546513092	chr10:4307366-4307367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182060482	chr10:4307368-4307369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141195741	chr10:4307378-4307379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557069536	chr10:4307399-4307400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61829411	chr10:4307424-4307425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs61829412	chr10:4307435-4307436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61829413	chr10:4307443-4307444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs61829414	chr10:4307456-4307457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575740284	chr10:4307481-4307482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150779093	chr10:4307482-4307483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138022298	chr10:4307489-4307490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2181121	chr10:4307507-4307508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532436288	chr10:4307519-4307520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186434128	chr10:4307577-4307578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547519552	chr10:4307578-4307579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190909504	chr10:4307584-4307585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370642385	chr10:4307600-4307601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376845751	chr10:4307602-4307603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559675705	chr10:4307631-4307632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4296800-4308800	Weak transcription	Psoas Muscle	Psoas
2	chr10:4301600-4316000	Weak transcription	Gastric	stomach
3	chr10:4302200-4306800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr10:4303200-4308800	Weak transcription	Fetal Brain Male	brain
5	chr10:4303200-4308800	Weak transcription	HMEC	breast
6	chr10:4303200-4309000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:4303200-4312200	Weak transcription	HUVEC	blood vessel
8	chr10:4303400-4308000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:4303400-4308800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:4303400-4308800	Weak transcription	Fetal Heart	heart
11	chr10:4303400-4312200	Weak transcription	NHEK	skin
12	chr10:4304000-4309000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:4305000-4309000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr10:4305200-4306800	Enhancers	Liver	Liver
15	chr10:4305600-4306800	Enhancers	Adipose Nuclei	Adipose
16	chr10:4305600-4306800	Enhancers	Ovary	ovary
17	chr10:4305600-4306800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr10:4305600-4309800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr10:4305800-4306600	Enhancers	Colonic Mucosa	Colon
20	chr10:4305800-4306800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:4305800-4306800	Enhancers	Lung	lung
22	chr10:4305800-4306800	Enhancers	Right Atrium	heart
23	chr10:4305800-4307000	Enhancers	Fetal Muscle Trunk	muscle
24	chr10:4305800-4307000	Enhancers	Right Ventricle	heart
25	chr10:4305800-4307200	Enhancers	Left Ventricle	heart
26	chr10:4305800-4307200	Enhancers	Spleen	Spleen
27	chr10:4305800-4307400	Enhancers	Placenta	Placenta
28	chr10:4306200-4307200	Enhancers	Hela-S3	cervix
29	chr10:4306200-4308000	Weak transcription	Esophagus	oesophagus
30	chr10:4306200-4308200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:4306200-4308200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:4306200-4308200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:4306200-4308200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:4306200-4308200	Weak transcription	Small Intestine	intestine
35	chr10:4306200-4308600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:4306200-4308600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:4306200-4308600	Weak transcription	NHDF-Ad	bronchial
38	chr10:4306200-4308800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:4306200-4313400	Weak transcription	Aorta	Aorta
40	chr10:4306400-4306600	Weak transcription	Pancreas	Pancrea
41	chr10:4306400-4308000	Weak transcription	Fetal Intestine Small	intestine
42	chr10:4306400-4308000	Weak transcription	Fetal Lung	lung
43	chr10:4306400-4308200	Weak transcription	Fetal Muscle Leg	muscle
44	chr10:4306400-4308400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr10:4306400-4308800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:4306400-4308800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:4306400-4308800	Weak transcription	Fetal Stomach	stomach
48	chr10:4306400-4309000	Weak transcription	NHLF	lung
49	chr10:4306400-4312400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr10:4306600-4307000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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