Variant report

Variant	nsv976328
Chromosome Location	chr14:35408827-35409537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:35409083-35409133	HCT-116	colon:	n/a
2	chr14:35409083-35409133	HIPEpiC	eye:	n/a
3	chr14:35409083-35409133	NT2-D1	testis:	n/a
4	chr14:35409083-35409133	AG04449	skin:	fetal
5	chr14:35409083-35409133	AG04450	lung:	fetal
6	chr14:35409083-35409133	GM06990	blood:	n/a
7	chr14:35409083-35409133	Jurkat	blood:	n/a
8	chr14:35409083-35409133	HRCEpiC	kidney:	n/a
9	chr14:35409083-35409133	RPTEC	kidney:	n/a
10	chr14:35409083-35409133	ovcar-3	ovarian:	n/a
11	chr14:35409083-35409133	MCF10A-Er-Src	breast:	n/a
12	chr14:35409083-35409133	GM19239	blood:	n/a
13	chr14:35409083-35409133	GM12878	blood:	n/a
14	chr14:35409083-35409133	SKMC	muscle:	n/a
15	chr14:35409083-35409133	NH-A	brain:	n/a
16	chr14:35409083-35409133	HEK293	kidney:	embryo
17	chr14:35409083-35409133	H1-hESC	embryonic stem cell:	embryo
18	chr14:35409083-35409133	GM12891	blood:	n/a
19	chr14:35409083-35409133	PFSK-1	brain:	n/a
20	chr14:35409083-35409133	SK-N-SH_RA	brain:	n/a
21	chr14:35409083-35409133	SK-N-MC	brain:	n/a
22	chr14:35409083-35409133	CMK	blood:	n/a
23	chr14:35409083-35409133	HCM	heart:	n/a
24	chr14:35409083-35409133	HL-60	blood:	n/a
25	chr14:35409083-35409133	HAEpiC	amniotic membrane:	n/a
26	chr14:35409083-35409133	HRPEpiC	eye:	n/a
27	chr14:35409083-35409133	SK-N-SH	brain:	n/a
28	chr14:35409083-35409133	HEEpiC	esophagus:	n/a
29	chr14:35409083-35409133	HMEC	breast:	n/a
30	chr14:35409083-35409133	BJ	skin:	n/a
31	chr14:35409083-35409133	U87	brain:	n/a
32	chr14:35409083-35409133	HCF	heart:	n/a
33	chr14:35409083-35409133	HUVEC	blood vessel:	n/a
34	chr14:35409083-35409133	NB4	blood:	n/a
35	chr14:35409083-35409133	HPAEpiC	pulmonary alveolar:	n/a
36	chr14:35409083-35409133	HepG2	liver:	n/a
37	chr14:35409083-35409133	HCPEpiC	choroid plexus:	n/a
38	chr14:35409083-35409133	BE2_C	brain:	n/a
39	chr14:35409083-35409133	HRE	kidney:	n/a
40	chr14:35409083-35409133	AG10803	skin:	n/a
41	chr14:35409083-35409133	Hela-S3	cervix:	n/a
42	chr14:35409083-35409133	SAEC	small airway:	n/a
43	chr14:35409083-35409133	Hepatocyte	liver:	n/a
44	chr14:35409083-35409133	IMR90	lung:	fetal
45	chr14:35409083-35409133	AoSMC	blood vessel:	n/a
46	chr14:35409083-35409133	T-47D	breast:	n/a
47	chr14:35409083-35409133	MCF-7	breast:	n/a
48	chr14:35409083-35409133	LNCaP	prostate:	n/a
49	chr14:35409083-35409133	HNPCEpiC	eye:	n/a
50	chr14:35409083-35409133	K562	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRP54-5	chr14:35409128-35409702	NR_002937

No data

Variant related genes	Relation type
IGBP1P1	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561254524	chr14:35408853-35408854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140897292	chr14:35408874-35408875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574916507	chr14:35408877-35408878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111713693	chr14:35408890-35408891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571867030	chr14:35408907-35408908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557900759	chr14:35408926-35408927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543475978	chr14:35409008-35409009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113502831	chr14:35409081-35409082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57261468	chr14:35409118-35409119	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs532705547	chr14:35409128-35409129	Weak transcription Strong transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs146203654	chr14:35409164-35409165	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs138789709	chr14:35409182-35409183	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs116935962	chr14:35409187-35409188	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs1967723	chr14:35409214-35409215	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs567042879	chr14:35409222-35409223	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs529657348	chr14:35409237-35409238	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs564894979	chr14:35409260-35409261	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs532149373	chr14:35409275-35409276	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs185887438	chr14:35409290-35409291	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs547475684	chr14:35409307-35409308	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs141340336	chr14:35409317-35409318	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs538600924	chr14:35409318-35409319	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs116094891	chr14:35409350-35409351	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs77962284	chr14:35409354-35409355	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs565918880	chr14:35409356-35409357	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs35988180	chr14:35409372-35409373	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs535101976	chr14:35409416-35409417	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs555075059	chr14:35409488-35409489	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35381400-35412200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:35389600-35411400	Weak transcription	Aorta	Aorta
3	chr14:35390000-35412600	Weak transcription	Ovary	ovary
4	chr14:35394600-35424000	Weak transcription	Fetal Lung	lung
5	chr14:35396400-35425200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:35396600-35424800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:35397200-35412800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:35397800-35420600	Weak transcription	Thymus	Thymus
9	chr14:35398800-35410600	Weak transcription	Fetal Brain Male	brain
10	chr14:35399000-35412200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:35399600-35412200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:35400600-35427000	Weak transcription	Primary B cells from cord blood	blood
13	chr14:35400800-35412200	Weak transcription	Adipose Nuclei	Adipose
14	chr14:35401000-35411200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:35401000-35421400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:35401000-35428800	Weak transcription	GM12878-XiMat	blood
17	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:35401400-35412200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:35401400-35412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:35401400-35412600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:35401400-35428800	Weak transcription	Stomach Mucosa	stomach
22	chr14:35401800-35411600	Weak transcription	Brain Angular Gyrus	brain
23	chr14:35402800-35412600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:35403000-35423800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:35403200-35425200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:35403600-35425200	Weak transcription	Gastric	stomach
27	chr14:35405800-35412800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:35406200-35412600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:35407000-35425000	Weak transcription	Spleen	Spleen
30	chr14:35408200-35409000	Strong transcription	Liver	Liver
31	chr14:35408200-35409800	Strong transcription	HepG2	liver
32	chr14:35408200-35425400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:35408800-35409600	Strong transcription	Primary T cells from cord blood	blood
34	chr14:35409000-35419000	Weak transcription	Liver	Liver

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