Variant report

Variant	nsv549911
Chromosome Location	chr10:6215091-6227382
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:41)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6215356..6217210-chr10:6219682..6222301,2	MCF-7	breast:
2	chr10:6214556..6217350-chr10:6223472..6225536,2	MCF-7	breast:
3	chr10:6213961..6227951-chr10:6240689..6247831,28	MCF-7	breast:
4	chr10:6227014..6229747-chr10:6234825..6236632,2	MCF-7	breast:
5	chr10:6205792..6207491-chr10:6220254..6222481,2	MCF-7	breast:
6	chr10:6213323..6215618-chr13:111812955..111815172,2	MCF-7	breast:
7	chr10:6191565..6193400-chr10:6217328..6219694,2	MCF-7	breast:
8	chr10:6220194..6222344-chr10:6222770..6224808,2	K562	blood:
9	chr10:6181525..6183322-chr10:6221078..6223708,2	MCF-7	breast:
10	chr10:6216149..6218572-chr10:6231742..6235431,4	MCF-7	breast:
11	chr10:6227022..6228926-chr10:6244345..6246649,2	K562	blood:
12	chr10:6216278..6218150-chr10:6312920..6315721,2	K562	blood:
13	chr10:6226873..6229406-chr10:6244259..6247053,2	MCF-7	breast:
14	chr10:6225709..6229406-chr10:6233017..6236048,4	K562	blood:
15	chr10:6220194..6222344-chr10:6222770..6224808,2	K562	blood:
16	chr10:6214556..6217350-chr10:6223472..6225536,2	MCF-7	breast:
17	chr10:6223792..6226013-chr10:6250745..6253206,2	MCF-7	breast:
18	chr10:6207823..6209426-chr10:6222499..6224983,2	K562	blood:
19	chr10:6211082..6212938-chr10:6217680..6219738,2	MCF-7	breast:
20	chr10:6223034..6224865-chr10:6226037..6228373,2	MCF-7	breast:
21	chr10:6214041..6215825-chr10:6272715..6274851,2	K562	blood:
22	chr10:6219224..6221919-chr10:6233756..6235338,2	K562	blood:
23	chr10:6224374..6226105-chr10:6243293..6245083,2	K562	blood:
24	chr10:6209809..6221866-chr10:6241112..6247882,17	MCF-7	breast:
25	chr10:6223957..6226913-chr10:6228760..6231952,3	K562	blood:
26	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
27	chr10:6219777..6221661-chr10:6223252..6225930,2	MCF-7	breast:
28	chr10:6225709..6229798-chr10:6232088..6236048,5	K562	blood:
29	chr10:6208646..6210405-chr10:6219404..6221992,2	MCF-7	breast:
30	chr10:6213667..6215175-chr10:6232475..6234152,2	MCF-7	breast:
31	chr10:6219777..6221661-chr10:6223252..6225930,2	MCF-7	breast:
32	chr10:6213842..6217578-chr10:6440215..6444300,4	MCF-7	breast:
33	chr10:6226744..6228554-chr10:6230060..6232211,2	MCF-7	breast:
34	chr10:6215356..6217210-chr10:6219682..6222301,2	MCF-7	breast:
35	chr10:6192230..6193807-chr10:6214197..6216329,2	K562	blood:
36	chr10:6223034..6224865-chr10:6226037..6228373,2	MCF-7	breast:
37	chr10:6221913..6225643-chr10:6242936..6247292,5	MCF-7	breast:
38	chr10:6214505..6218231-chr10:6225488..6229463,4	K562	blood:
39	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
40	chr10:6214505..6218231-chr10:6225488..6229463,4	K562	blood:
41	chr10:6210751..6212790-chr10:6219914..6222242,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL2RA-5	chr10:6218283-6218409	NONHSAT011214
2	lnc-RBM17-1	chr10:6221120-6221473	ENSG00000224502.1
3	lnc-IL2RA-5	chr10:6219502-6219526	NONHSAT011214
4	lnc-RBM17-1	chr10:6222098-6222152	ENSG00000224502.1
5	lnc-IL2RA-5	chr10:6222983-6223680	l_249_chr10:6203492-6223680_skeltalMuscle

No data

Variant related genes	Relation type
ENSG00000213994	chromatin interactions
ENSG00000201581	chromatin interactions
ENSG00000170525	chromatin interactions

Extended variants
information (count: 673 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs658386	chr10:6215091-6215092	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115407771	chr10:6215103-6215104	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573503499	chr10:6215111-6215112	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191474319	chr10:6215182-6215183	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs118154866	chr10:6215201-6215202	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79852465	chr10:6215213-6215214	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539403927	chr10:6215221-6215222	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs657600	chr10:6215224-6215225	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2387015	chr10:6215257-6215258	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs563033933	chr10:6215267-6215268	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140074368	chr10:6215286-6215287	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs657523	chr10:6215287-6215288	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560238573	chr10:6215296-6215297	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528403477	chr10:6215314-6215315	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374034336	chr10:6215318-6215319	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546954265	chr10:6215323-6215324	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568356276	chr10:6215335-6215336	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535678123	chr10:6215382-6215383	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550489918	chr10:6215462-6215463	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs116620144	chr10:6215489-6215490	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs79391071	chr10:6215490-6215491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375113448	chr10:6215543-6215544	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74530981	chr10:6215552-6215553	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574150698	chr10:6215561-6215562	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs145699751	chr10:6215600-6215601	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11257073	chr10:6215611-6215612	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557052520	chr10:6215655-6215656	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371409745	chr10:6215689-6215690	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573979545	chr10:6215702-6215703	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544415507	chr10:6215732-6215733	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs115501263	chr10:6215743-6215744	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536471035	chr10:6215744-6215745	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs148498747	chr10:6215845-6215846	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs142818737	chr10:6215872-6215873	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs654876	chr10:6215873-6215874	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527731636	chr10:6215878-6215879	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549379508	chr10:6215886-6215887	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375076315	chr10:6215892-6215893	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146535107	chr10:6215904-6215905	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs151103791	chr10:6215946-6215947	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187902931	chr10:6215960-6215961	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192861355	chr10:6215961-6215962	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142648799	chr10:6215988-6215989	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs533057104	chr10:6216025-6216026	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551229127	chr10:6216027-6216028	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs77870845	chr10:6216029-6216030	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs533575976	chr10:6216030-6216031	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554907096	chr10:6216041-6216042	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs200097735	chr10:6216082-6216083	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375250161	chr10:6216086-6216087	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6188400-6225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:6206600-6220000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:6207000-6218600	Weak transcription	Fetal Lung	lung
4	chr10:6207000-6219000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:6207000-6219400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
7	chr10:6207200-6217800	Weak transcription	HMEC	breast
8	chr10:6207200-6218800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:6207600-6218600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:6209000-6216400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:6209400-6218200	Weak transcription	Fetal Brain Female	brain
12	chr10:6209400-6224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:6209800-6217600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:6210000-6215800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:6210200-6220800	Enhancers	Left Ventricle	heart
16	chr10:6210600-6216800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr10:6210600-6217800	Weak transcription	NHEK	skin
18	chr10:6210800-6217800	Weak transcription	K562	blood
19	chr10:6211000-6221800	Enhancers	Adipose Nuclei	Adipose
20	chr10:6211200-6215600	Enhancers	Duodenum Mucosa	Duodenum
21	chr10:6211200-6218000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr10:6211200-6221600	Enhancers	Psoas Muscle	Psoas
23	chr10:6211600-6215200	Weak transcription	Aorta	Aorta
24	chr10:6212200-6215200	Enhancers	GM12878-XiMat	blood
25	chr10:6212400-6215200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr10:6212400-6217200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:6212400-6220200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr10:6212400-6224600	Weak transcription	Dnd41	blood
29	chr10:6212600-6215400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr10:6212600-6215600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr10:6212600-6216200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:6212600-6219000	Enhancers	Fetal Muscle Trunk	muscle
33	chr10:6212800-6217400	Weak transcription	Stomach Mucosa	stomach
34	chr10:6213000-6215800	Enhancers	HUVEC	blood vessel
35	chr10:6213000-6221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:6213200-6215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:6213200-6216000	Enhancers	Pancreas	Pancrea
38	chr10:6213200-6217400	Enhancers	Right Ventricle	heart
39	chr10:6213400-6215400	Enhancers	Primary B cells from peripheral blood	blood
40	chr10:6213400-6215400	Enhancers	Small Intestine	intestine
41	chr10:6213400-6215800	Enhancers	Spleen	Spleen
42	chr10:6213400-6216600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:6213600-6215200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr10:6213600-6216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:6213600-6216600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:6213600-6216600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr10:6213600-6219000	Enhancers	Ovary	ovary
48	chr10:6213800-6215400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:6213800-6215400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:6213800-6216000	Enhancers	Fetal Heart	heart

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