Variant report

Variant	nsv894821
Chromosome Location	chr10:6210740-6228226
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:51)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:6211082..6212938-chr10:6217680..6219738,2	MCF-7	breast:
2	chr10:6212333..6214108-chr10:6443084..6445414,2	MCF-7	breast:
3	chr10:6210751..6212790-chr10:6219914..6222242,2	K562	blood:
4	chr10:6209809..6221866-chr10:6241112..6247882,17	MCF-7	breast:
5	chr10:6226873..6229406-chr10:6244259..6247053,2	MCF-7	breast:
6	chr10:6223957..6226913-chr10:6228760..6231952,3	K562	blood:
7	chr10:6223034..6224865-chr10:6226037..6228373,2	MCF-7	breast:
8	chr10:6216278..6218150-chr10:6312920..6315721,2	K562	blood:
9	chr10:6225709..6229798-chr10:6232088..6236048,5	K562	blood:
10	chr10:6225709..6229406-chr10:6233017..6236048,4	K562	blood:
11	chr10:6205792..6207491-chr10:6220254..6222481,2	MCF-7	breast:
12	chr10:6214505..6218231-chr10:6225488..6229463,4	K562	blood:
13	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
14	chr10:6197111..6199158-chr10:6208551..6211482,2	K562	blood:
15	chr10:6219777..6221661-chr10:6223252..6225930,2	MCF-7	breast:
16	chr10:6176060..6177647-chr10:6211821..6213802,2	MCF-7	breast:
17	chr10:6220194..6222344-chr10:6222770..6224808,2	K562	blood:
18	chr10:6221913..6225643-chr10:6242936..6247292,5	MCF-7	breast:
19	chr10:6208646..6210405-chr10:6219404..6221992,2	MCF-7	breast:
20	chr10:6227537..6229676-chr10:6232750..6234634,2	MCF-7	breast:
21	chr10:6193977..6196105-chr10:6208590..6211475,2	K562	blood:
22	chr10:6216149..6218572-chr10:6231742..6235431,4	MCF-7	breast:
23	chr10:6213323..6215618-chr13:111812955..111815172,2	MCF-7	breast:
24	chr10:6215356..6217210-chr10:6219682..6222301,2	MCF-7	breast:
25	chr10:6191565..6193400-chr10:6217328..6219694,2	MCF-7	breast:
26	chr10:6219224..6221919-chr10:6233756..6235338,2	K562	blood:
27	chr10:6210751..6212790-chr10:6219914..6222242,2	K562	blood:
28	chr10:6227022..6228926-chr10:6244345..6246649,2	K562	blood:
29	chr10:6228148..6231205-chr10:6241897..6245300,3	MCF-7	breast:
30	chr10:6223792..6226013-chr10:6250745..6253206,2	MCF-7	breast:
31	chr10:6207823..6209426-chr10:6222499..6224983,2	K562	blood:
32	chr10:6219777..6221661-chr10:6223252..6225930,2	MCF-7	breast:
33	chr10:6211082..6212938-chr10:6217680..6219738,2	MCF-7	breast:
34	chr10:6214041..6215825-chr10:6272715..6274851,2	K562	blood:
35	chr10:6202871..6212786-chr10:6240811..6248696,29	MCF-7	breast:
36	chr10:6213842..6217578-chr10:6440215..6444300,4	MCF-7	breast:
37	chr10:6181525..6183322-chr10:6221078..6223708,2	MCF-7	breast:
38	chr10:6214556..6217350-chr10:6223472..6225536,2	MCF-7	breast:
39	chr10:6224374..6226105-chr10:6243293..6245083,2	K562	blood:
40	chr10:6213961..6227951-chr10:6240689..6247831,28	MCF-7	breast:
41	chr10:6214556..6217350-chr10:6223472..6225536,2	MCF-7	breast:
42	chr10:6192230..6193807-chr10:6214197..6216329,2	K562	blood:
43	chr10:6213667..6215175-chr10:6232475..6234152,2	MCF-7	breast:
44	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
45	chr10:6215356..6217210-chr10:6219682..6222301,2	MCF-7	breast:
46	chr10:6135493..6137735-chr10:6209780..6211467,2	K562	blood:
47	chr10:6220194..6222344-chr10:6222770..6224808,2	K562	blood:
48	chr10:6214505..6218231-chr10:6225488..6229463,4	K562	blood:
49	chr10:6223034..6224865-chr10:6226037..6228373,2	MCF-7	breast:
50	chr10:6227014..6229747-chr10:6234825..6236632,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL2RA-5	chr10:6219502-6219526	NONHSAT011214
2	lnc-IL2RA-5	chr10:6209362-6211035	l_249_chr10:6203492-6223680_skeltalMuscle
3	lnc-RBM17-1	chr10:6221120-6221473	ENSG00000224502.1
4	lnc-RBM17-1	chr10:6222098-6222152	ENSG00000224502.1
5	lnc-IL2RA-5	chr10:6218283-6218409	NONHSAT011214
6	lnc-IL2RA-5	chr10:6222983-6223680	l_249_chr10:6203492-6223680_skeltalMuscle

No data

Variant related genes	Relation type
ENSG00000263628	chromatin interactions
ENSG00000213994	chromatin interactions
ENSG00000170525	chromatin interactions
ENSG00000201581	chromatin interactions

Extended variants
information (count: 940 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11599186	chr10:6210740-6210741	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs629734	chr10:6210773-6210774	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548193701	chr10:6210775-6210776	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs555028815	chr10:6210798-6210799	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs574016158	chr10:6210801-6210802	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs544457249	chr10:6210802-6210803	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs78815004	chr10:6210827-6210828	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs533387788	chr10:6210846-6210847	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs370346409	chr10:6210856-6210857	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs629298	chr10:6210859-6210860	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527766179	chr10:6210864-6210865	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs139198558	chr10:6210866-6210867	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs561240641	chr10:6210867-6210868	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs552436599	chr10:6210880-6210881	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs78467706	chr10:6210887-6210888	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs75943395	chr10:6210888-6210889	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs529208659	chr10:6210890-6210891	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs550855762	chr10:6210892-6210893	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs61839738	chr10:6210898-6210899	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs570639883	chr10:6210914-6210915	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs75067173	chr10:6210936-6210937	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs539668359	chr10:6210966-6210967	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs190753658	chr10:6210973-6210974	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs376618056	chr10:6210979-6210980	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs377665606	chr10:6210980-6210981	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs566596587	chr10:6210988-6210989	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs553421297	chr10:6210994-6210995	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs79660736	chr10:6211014-6211015	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs562926100	chr10:6211046-6211047	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs628387	chr10:6211065-6211066	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs7923054	chr10:6211087-6211088	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs58138401	chr10:6211105-6211106	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556484901	chr10:6211180-6211181	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs557250621	chr10:6211197-6211198	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs148655845	chr10:6211222-6211223	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs545615892	chr10:6211270-6211271	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs187113128	chr10:6211287-6211288	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558918049	chr10:6211297-6211298	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs572526593	chr10:6211384-6211385	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs546680729	chr10:6211405-6211406	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs191119828	chr10:6211416-6211417	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs542710267	chr10:6211427-6211428	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs182915745	chr10:6211481-6211482	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12572456	chr10:6211512-6211513	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550197641	chr10:6211521-6211522	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541702047	chr10:6211555-6211556	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575497102	chr10:6211565-6211566	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs77262228	chr10:6211592-6211593	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12569573	chr10:6211593-6211594	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187523719	chr10:6211596-6211597	Weak transcription Enhancers Genic enhancers	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:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

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	chr10:6206800-6211200	Weak transcription	Aorta	Aorta
4	chr10:6206800-6211800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:6206800-6212600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:6206800-6213600	Weak transcription	HSMM	muscle
7	chr10:6207000-6211400	Weak transcription	Stomach Mucosa	stomach
8	chr10:6207000-6211800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:6207000-6212600	Weak transcription	NH-A	brain
10	chr10:6207000-6212800	Weak transcription	Osteobl	bone
11	chr10:6207000-6213400	Weak transcription	HSMMtube	muscle
12	chr10:6207000-6213800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:6207000-6213800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:6207000-6214000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:6207000-6214800	Weak transcription	Colonic Mucosa	Colon
16	chr10:6207000-6218600	Weak transcription	Fetal Lung	lung
17	chr10:6207000-6219000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:6207000-6219400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
20	chr10:6207200-6211800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:6207200-6214200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:6207200-6217800	Weak transcription	HMEC	breast
23	chr10:6207200-6218800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:6207400-6211400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:6207400-6211800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr10:6207600-6211200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:6207600-6211400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:6207600-6211400	Weak transcription	HUVEC	blood vessel
29	chr10:6207600-6211600	Weak transcription	Liver	Liver
30	chr10:6207600-6211600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:6207600-6212600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr10:6207600-6212600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:6207600-6213400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:6207600-6213600	Weak transcription	Brain Angular Gyrus	brain
35	chr10:6207600-6213600	Weak transcription	Brain Substantia Nigra	brain
36	chr10:6207600-6214200	Weak transcription	Brain Germinal Matrix	brain
37	chr10:6207600-6214600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr10:6207600-6214800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr10:6207600-6218600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr10:6207800-6210800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr10:6207800-6210800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:6207800-6211200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr10:6207800-6211600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:6207800-6211600	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:6207800-6212200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr10:6208000-6210800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr10:6208000-6210800	Strong transcription	Fetal Thymus	thymus
48	chr10:6208000-6211000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr10:6208000-6211400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr10:6208000-6211400	Strong transcription	Fetal Stomach	stomach

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