Variant report

Variant	nsv549907
Chromosome Location	chr10:6000259-6002368
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:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5993943..5996022-chr10:5999962..6001752,2	K562	blood:
2	chr10:6000236..6003390-chr10:6003998..6007470,4	K562	blood:
3	chr10:5993943..5996506-chr10:5999317..6001462,2	K562	blood:
4	chr10:5999303..6003344-chr10:6003662..6007961,5	MCF-7	breast:
5	chr10:6000182..6002722-chr10:6191709..6195207,3	K562	blood:
6	chr10:6001696..6002224-chr10:6018770..6019697,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL15RA-2	chr10:6002330-6002530	NONHSAT011199
2	lnc-IL15RA-2	chr10:6001717-6001749	NONHSAT011199
3	lnc-IL15RA-2	chr10:6002330-6002431	NONHSAT011198
4	lnc-IL15RA-2	chr10:6001717-6001749	NONHSAT011197
5	lnc-IL15RA-2	chr10:6002330-6002530	NONHSAT011197
6	lnc-IL15RA-2	chr10:6001717-6001749	NONHSAT011198

No data

Variant related genes	Relation type
ENSG00000134470	chromatin interactions
ENSG00000263628	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17320853	chr10:6000259-6000260	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7079526	chr10:6000266-6000267	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563108631	chr10:6000284-6000285	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553591756	chr10:6000285-6000286	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575054995	chr10:6000302-6000303	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542454717	chr10:6000333-6000334	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141340544	chr10:6000347-6000348	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183346880	chr10:6000374-6000375	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572932346	chr10:6000390-6000391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76023137	chr10:6000403-6000404	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12260233	chr10:6000409-6000410	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532257722	chr10:6000425-6000426	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540954880	chr10:6000431-6000432	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559244946	chr10:6000466-6000467	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529806172	chr10:6000471-6000472	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555546018	chr10:6000474-6000475	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548375503	chr10:6000502-6000503	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189203239	chr10:6000537-6000538	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530679886	chr10:6000594-6000595	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544661310	chr10:6000595-6000596	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs8177710	chr10:6000598-6000599	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570499616	chr10:6000599-6000600	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534620877	chr10:6000641-6000642	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533700453	chr10:6000648-6000649	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553666359	chr10:6000665-6000666	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs117475887	chr10:6000830-6000831	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs8177785	chr10:6000831-6000832	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs8177709	chr10:6000868-6000869	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs8177708	chr10:6000895-6000896	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs55705551	chr10:6000949-6000950	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546312147	chr10:6000954-6000955	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs193089105	chr10:6000982-6000983	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs3136626	chr10:6001016-6001017	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140162623	chr10:6001061-6001062	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs200197028	chr10:6001121-6001122	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201269483	chr10:6001127-6001128	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566891770	chr10:6001133-6001134	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559183000	chr10:6001137-6001138	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199775512	chr10:6001138-6001139	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs3136625	chr10:6001139-6001140	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568016659	chr10:6001171-6001172	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs8177707	chr10:6001174-6001175	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563541085	chr10:6001179-6001180	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs142009427	chr10:6001219-6001220	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs552280473	chr10:6001247-6001248	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs146132935	chr10:6001280-6001281	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs3136624	chr10:6001317-6001318	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546619761	chr10:6001319-6001320	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs149329529	chr10:6001327-6001328	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs35724333	chr10:6001357-6001358	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 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
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
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5969600-6012000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:5971400-6013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr10:5980000-6013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:5980800-6017800	Weak transcription	Thymus	Thymus
5	chr10:5981000-6003600	Weak transcription	Primary T cells from cord blood	blood
6	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
7	chr10:5987600-6018000	Weak transcription	Psoas Muscle	Psoas
8	chr10:5987800-6017800	Weak transcription	Fetal Thymus	thymus
9	chr10:5988000-6000800	Weak transcription	Colonic Mucosa	Colon
10	chr10:5988000-6001400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr10:5988200-6001800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:5988400-6001200	Weak transcription	Ovary	ovary
13	chr10:5988400-6001600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:5988600-6011800	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:5989200-6001600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:5989400-6001200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:5991400-6000800	Weak transcription	K562	blood
18	chr10:5991400-6004800	Weak transcription	Brain Anterior Caudate	brain
19	chr10:5993200-6001600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:5993400-6000400	Weak transcription	NHLF	lung
21	chr10:5993600-6013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:5994000-6011000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr10:5994000-6012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:5994200-6012200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr10:5994200-6012800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:5994800-6001800	Weak transcription	Stomach Mucosa	stomach
27	chr10:5995000-6004600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr10:5995400-6000400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:5995400-6001600	Weak transcription	Fetal Intestine Large	intestine
30	chr10:5995400-6012400	Weak transcription	Small Intestine	intestine
31	chr10:5995600-6001200	Weak transcription	Gastric	stomach
32	chr10:5995600-6001600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr10:5995800-6000400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:5996000-6000800	Weak transcription	Adipose Nuclei	Adipose
35	chr10:5997600-6007600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:5997800-6003600	Strong transcription	Spleen	Spleen
37	chr10:5998200-6001200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr10:5998200-6006400	Strong transcription	Liver	Liver
39	chr10:5998600-6000400	Weak transcription	Left Ventricle	heart
40	chr10:5998800-6000400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:5998800-6000400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr10:5998800-6000400	Weak transcription	Lung	lung
43	chr10:5998800-6000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:5998800-6000800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr10:5998800-6000800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr10:5998800-6000800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:5998800-6001200	Weak transcription	Fetal Intestine Small	intestine
48	chr10:5998800-6001200	Weak transcription	Fetal Stomach	stomach
49	chr10:5998800-6001200	Weak transcription	Pancreas	Pancrea
50	chr10:5998800-6001200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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