Variant report

Variant	nsv947779
Chromosome Location	chr10:26974259-26977316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:26973781..26976716-chr10:26986143..26988490,2	K562	blood:
2	chr10:26968705..26971277-chr10:26973238..26975564,2	K562	blood:
3	chr10:26972585..26978071-chr10:26984536..26988033,8	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDSS1-3	chr10:26977035-26977217	NONHSAT011854
2	lnc-PDSS1-3	chr10:26976921-26977217	NONHSAT011853

Variant related genes	Relation type
ENSG00000148459	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566734253	chr10:26974260-26974261	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1748343	chr10:26974263-26974264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs192624240	chr10:26974265-26974266	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35676332	chr10:26974273-26974274	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370635872	chr10:26974284-26974285	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116109587	chr10:26974285-26974286	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1677739	chr10:26974350-26974351	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs185612171	chr10:26974370-26974371	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190084223	chr10:26974377-26974378	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs193046149	chr10:26974384-26974385	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184819067	chr10:26974409-26974410	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569262773	chr10:26974462-26974463	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545591528	chr10:26974465-26974466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545287470	chr10:26974518-26974519	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565270452	chr10:26974574-26974575	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1748342	chr10:26974624-26974625	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs544809348	chr10:26974625-26974626	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1780173	chr10:26974630-26974631	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs530220006	chr10:26974639-26974640	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546970958	chr10:26974656-26974657	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566871041	chr10:26974673-26974674	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532594663	chr10:26974775-26974776	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200566643	chr10:26974832-26974833	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs386742168	chr10:26974833-26974834	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188354407	chr10:26974834-26974835	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369411133	chr10:26974862-26974863	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569203576	chr10:26974878-26974879	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181181036	chr10:26974892-26974893	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554766903	chr10:26974933-26974934	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568024857	chr10:26974996-26974997	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1748341	chr10:26974998-26974999	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs78297353	chr10:26975007-26975008	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183756033	chr10:26975032-26975033	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576414480	chr10:26975040-26975041	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561560959	chr10:26975049-26975050	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1748340	chr10:26975058-26975059	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs558795148	chr10:26975135-26975136	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575908055	chr10:26975230-26975231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1748339	chr10:26975252-26975253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200724436	chr10:26975289-26975290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561537223	chr10:26975358-26975359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12264994	chr10:26975368-26975369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12255898	chr10:26975369-26975370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1677738	chr10:26975401-26975402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs532528459	chr10:26975426-26975427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12255942	chr10:26975439-26975440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150531325	chr10:26975492-26975493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531645221	chr10:26975560-26975561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548234263	chr10:26975597-26975598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568235844	chr10:26975624-26975625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26969600-26974800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr10:26970600-26974400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr10:26971000-26974400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr10:26971000-26974400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr10:26971000-26974400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr10:26973000-26978000	Weak transcription	Dnd41	blood
7	chr10:26973400-26974400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:26973800-26974800	Flanking Active TSS	Fetal Thymus	thymus
9	chr10:26973800-26974800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr10:26973800-26975200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr10:26974000-26975200	Weak transcription	K562	blood
12	chr10:26974200-26974400	Bivalent Enhancer	Liver	Liver
13	chr10:26974200-26974600	Enhancers	Primary T cells from cord blood	blood
14	chr10:26974200-26974600	Flanking Active TSS	Thymus	Thymus
15	chr10:26974200-26978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr10:26974400-26974600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr10:26974400-26978200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr10:26974400-26978200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr10:26974600-26975200	Active TSS	Thymus	Thymus
20	chr10:26974800-26975200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr10:26974800-26975200	Active TSS	Fetal Thymus	thymus
22	chr10:26974800-26975400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr10:26975200-26975400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr10:26975200-26975400	Weak transcription	Thymus	Thymus
25	chr10:26975200-26977200	Enhancers	Fetal Thymus	thymus
26	chr10:26975200-26977600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr10:26975400-26975600	Enhancers	Thymus	Thymus
28	chr10:26975400-26977800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:26975400-26978200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:26975600-26977800	Weak transcription	Thymus	Thymus
31	chr10:26977200-26978200	Weak transcription	Fetal Thymus	thymus

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