Variant report

Variant	nsv549910
Chromosome Location	chr10:6213807-6228226
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:44)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6216149..6218572-chr10:6231742..6235431,4	MCF-7	breast:
2	chr10:6191565..6193400-chr10:6217328..6219694,2	MCF-7	breast:
3	chr10:6228148..6231205-chr10:6241897..6245300,3	MCF-7	breast:
4	chr10:6227537..6229676-chr10:6232750..6234634,2	MCF-7	breast:
5	chr10:6226873..6229406-chr10:6244259..6247053,2	MCF-7	breast:
6	chr10:6207823..6209426-chr10:6222499..6224983,2	K562	blood:
7	chr10:6212333..6214108-chr10:6443084..6445414,2	MCF-7	breast:
8	chr10:6214041..6215825-chr10:6272715..6274851,2	K562	blood:
9	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
10	chr10:6214505..6218231-chr10:6225488..6229463,4	K562	blood:
11	chr10:6221913..6225643-chr10:6242936..6247292,5	MCF-7	breast:
12	chr10:6214505..6218231-chr10:6225488..6229463,4	K562	blood:
13	chr10:6213323..6215618-chr13:111812955..111815172,2	MCF-7	breast:
14	chr10:6205792..6207491-chr10:6220254..6222481,2	MCF-7	breast:
15	chr10:6219224..6221919-chr10:6233756..6235338,2	K562	blood:
16	chr10:6192230..6193807-chr10:6214197..6216329,2	K562	blood:
17	chr10:6223034..6224865-chr10:6226037..6228373,2	MCF-7	breast:
18	chr10:6223034..6224865-chr10:6226037..6228373,2	MCF-7	breast:
19	chr10:6226744..6228554-chr10:6230060..6232211,2	MCF-7	breast:
20	chr10:6216278..6218150-chr10:6312920..6315721,2	K562	blood:
21	chr10:6219777..6221661-chr10:6223252..6225930,2	MCF-7	breast:
22	chr10:6181525..6183322-chr10:6221078..6223708,2	MCF-7	breast:
23	chr10:6225709..6229406-chr10:6233017..6236048,4	K562	blood:
24	chr10:6227014..6229747-chr10:6234825..6236632,2	MCF-7	breast:
25	chr10:6214556..6217350-chr10:6223472..6225536,2	MCF-7	breast:
26	chr10:6215356..6217210-chr10:6219682..6222301,2	MCF-7	breast:
27	chr10:6213996..6218900-chr10:6219033..6223429,8	K562	blood:
28	chr10:6227022..6228926-chr10:6244345..6246649,2	K562	blood:
29	chr10:6211082..6212938-chr10:6217680..6219738,2	MCF-7	breast:
30	chr10:6220194..6222344-chr10:6222770..6224808,2	K562	blood:
31	chr10:6225709..6229798-chr10:6232088..6236048,5	K562	blood:
32	chr10:6213961..6227951-chr10:6240689..6247831,28	MCF-7	breast:
33	chr10:6213667..6215175-chr10:6232475..6234152,2	MCF-7	breast:
34	chr10:6224374..6226105-chr10:6243293..6245083,2	K562	blood:
35	chr10:6223792..6226013-chr10:6250745..6253206,2	MCF-7	breast:
36	chr10:6208646..6210405-chr10:6219404..6221992,2	MCF-7	breast:
37	chr10:6220194..6222344-chr10:6222770..6224808,2	K562	blood:
38	chr10:6219777..6221661-chr10:6223252..6225930,2	MCF-7	breast:
39	chr10:6210751..6212790-chr10:6219914..6222242,2	K562	blood:
40	chr10:6215356..6217210-chr10:6219682..6222301,2	MCF-7	breast:
41	chr10:6213842..6217578-chr10:6440215..6444300,4	MCF-7	breast:
42	chr10:6209809..6221866-chr10:6241112..6247882,17	MCF-7	breast:
43	chr10:6214556..6217350-chr10:6223472..6225536,2	MCF-7	breast:
44	chr10:6223957..6226913-chr10:6228760..6231952,3	K562	blood:

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

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

No data

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

Extended variants
information (count: 770 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11812305	chr10:6213807-6213808	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190875282	chr10:6213830-6213831	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181913044	chr10:6213948-6213949	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3814195	chr10:6213960-6213961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs574510188	chr10:6213976-6213977	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541925706	chr10:6213978-6213979	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569631465	chr10:6213979-6213980	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs3814194	chr10:6213980-6213981	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111899780	chr10:6213995-6213996	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576929121	chr10:6214017-6214018	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147990526	chr10:6214033-6214034	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547569851	chr10:6214046-6214047	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs3814193	chr10:6214060-6214061	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541860201	chr10:6214079-6214080	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567487358	chr10:6214087-6214088	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190572895	chr10:6214123-6214124	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs115563270	chr10:6214134-6214135	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563321167	chr10:6214135-6214136	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs78680212	chr10:6214153-6214154	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs528734018	chr10:6214187-6214188	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546770153	chr10:6214190-6214191	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568251874	chr10:6214193-6214194	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183777644	chr10:6214213-6214214	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546127679	chr10:6214258-6214259	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550585411	chr10:6214263-6214264	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373877340	chr10:6214350-6214351	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536957521	chr10:6214409-6214410	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558859485	chr10:6214465-6214466	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187860097	chr10:6214478-6214479	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs535042553	chr10:6214498-6214499	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534851399	chr10:6214506-6214507	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs191470022	chr10:6214517-6214518	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370738466	chr10:6214522-6214523	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs80021509	chr10:6214539-6214540	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76585197	chr10:6214560-6214561	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557003518	chr10:6214604-6214605	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575234472	chr10:6214618-6214619	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs139975143	chr10:6214653-6214654	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182379020	chr10:6214659-6214660	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs528767716	chr10:6214695-6214696	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540445146	chr10:6214698-6214699	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs678379	chr10:6214772-6214773	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs76485787	chr10:6214786-6214787	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs56885054	chr10:6214787-6214788	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs80132123	chr10:6214788-6214789	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529351494	chr10:6214792-6214793	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550620378	chr10:6214820-6214821	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs569244505	chr10:6214871-6214872	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs669534	chr10:6214880-6214881	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs529415747	chr10:6214900-6214901	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	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:685 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr10:6207000-6214000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:6207000-6214800	Weak transcription	Colonic Mucosa	Colon
5	chr10:6207000-6218600	Weak transcription	Fetal Lung	lung
6	chr10:6207000-6219000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:6207000-6219400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:6207000-6244400	Weak transcription	Hela-S3	cervix
9	chr10:6207200-6214200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:6207200-6217800	Weak transcription	HMEC	breast
11	chr10:6207200-6218800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:6207600-6214200	Weak transcription	Brain Germinal Matrix	brain
13	chr10:6207600-6214600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:6207600-6214800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:6207600-6218600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:6209000-6216400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:6209200-6214000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:6209400-6214000	Weak transcription	Right Atrium	heart
19	chr10:6209400-6214000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:6209400-6218200	Weak transcription	Fetal Brain Female	brain
21	chr10:6209400-6224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:6209800-6217600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr10:6210000-6215000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr10:6210000-6215800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:6210200-6214000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr10:6210200-6220800	Enhancers	Left Ventricle	heart
27	chr10:6210400-6214000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:6210600-6216800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr10:6210600-6217800	Weak transcription	NHEK	skin
30	chr10:6210800-6214200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:6210800-6214200	Weak transcription	Gastric	stomach
32	chr10:6210800-6214600	Weak transcription	Esophagus	oesophagus
33	chr10:6210800-6215000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr10:6210800-6217800	Weak transcription	K562	blood
35	chr10:6211000-6214000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:6211000-6214000	Weak transcription	Primary B cells from cord blood	blood
37	chr10:6211000-6221800	Enhancers	Adipose Nuclei	Adipose
38	chr10:6211200-6214000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:6211200-6214000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:6211200-6215600	Enhancers	Duodenum Mucosa	Duodenum
41	chr10:6211200-6218000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr10:6211200-6221600	Enhancers	Psoas Muscle	Psoas
43	chr10:6211400-6214000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:6211400-6214000	Enhancers	Fetal Muscle Leg	muscle
45	chr10:6211400-6214000	Enhancers	Stomach Smooth Muscle	stomach
46	chr10:6211400-6214400	Enhancers	NHLF	lung
47	chr10:6211600-6215200	Weak transcription	Aorta	Aorta
48	chr10:6211800-6214000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr10:6211800-6214600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:6212200-6214200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links