Variant report

Variant	nsv983827
Chromosome Location	chr14:55880061-55881470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:55880393-55880658	HepG2	liver:	n/a	n/a
2	FOXA1	chr14:55880419-55880652	T-47D	breast:	n/a	n/a
3	GATA3	chr14:55878071-55880708	MCF-7	breast:	n/a	chr14:55878107-55878116
4	GTF3C2	chr14:55880240-55880705	Hela-S3	cervix:	n/a	n/a
5	MAFK	chr14:55881324-55881420	K562	blood:	n/a	n/a
6	NR2F2	chr14:55880109-55880780	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55654827..55657243-chr14:55881202..55883542,2	K562	blood:
2	chr14:55832090..55833883-chr14:55878712..55880700,2	MCF-7	breast:
3	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:
4	chr14:55878684..55880292-chr14:55881926..55883661,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATG14-2	chr14:55880274-55880777	NONHSAT037009

No data

Variant related genes	Relation type
ATG14	TF binding region
RPL21P6	TF binding region
ENSG00000178974	chromatin interactions
ENSG00000258413	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556411899	chr14:55880098-55880099	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs187246853	chr14:55880130-55880131	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs375609904	chr14:55880138-55880139	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs1009648	chr14:55880169-55880170	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565438169	chr14:55880213-55880214	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs373369131	chr14:55880215-55880216	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs543413753	chr14:55880257-55880258	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs376979599	chr14:55880258-55880259	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs143171564	chr14:55880276-55880277	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs527249297	chr14:55880318-55880319	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs1572610	chr14:55880341-55880342	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560792302	chr14:55880360-55880361	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs191864973	chr14:55880361-55880362	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs111274844	chr14:55880374-55880375	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs368131303	chr14:55880377-55880378	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs184718162	chr14:55880379-55880380	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs371849060	chr14:55880386-55880387	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs17128452	chr14:55880440-55880441	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374389071	chr14:55880557-55880558	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs148687359	chr14:55880588-55880589	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs547725941	chr14:55880618-55880619	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs566043342	chr14:55880632-55880633	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs142181616	chr14:55880676-55880677	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs554971985	chr14:55880688-55880689	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs570021871	chr14:55880700-55880701	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs946056	chr14:55880730-55880731	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556387490	chr14:55880738-55880739	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs560899496	chr14:55880785-55880786	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577950956	chr14:55880795-55880796	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545231041	chr14:55880802-55880803	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554060380	chr14:55880807-55880808	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572326390	chr14:55880827-55880828	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542223214	chr14:55880832-55880833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560971902	chr14:55880887-55880888	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147816955	chr14:55880894-55880895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543160202	chr14:55880916-55880917	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs946055	chr14:55880918-55880919	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142452015	chr14:55880937-55880938	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs76994124	chr14:55880938-55880939	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs566215278	chr14:55880949-55880950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530441017	chr14:55880970-55880971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548278685	chr14:55880997-55880998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570064213	chr14:55880999-55881000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs79919449	chr14:55881011-55881012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs17128455	chr14:55881018-55881019	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373514285	chr14:55881046-55881047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375488795	chr14:55881048-55881049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144681507	chr14:55881074-55881075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370912698	chr14:55881076-55881077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375095318	chr14:55881087-55881088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55878800-55880200	Flanking Active TSS	NHEK	skin
2	chr14:55879000-55880200	Enhancers	Stomach Mucosa	stomach
3	chr14:55879200-55885200	Weak transcription	Right Ventricle	heart
4	chr14:55879400-55880200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:55879400-55880400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:55879400-55880400	Weak transcription	Liver	Liver
7	chr14:55879400-55880600	Weak transcription	Psoas Muscle	Psoas
8	chr14:55879400-55883200	Weak transcription	Fetal Intestine Large	intestine
9	chr14:55879400-55883400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:55879400-55883400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:55879400-55883400	Weak transcription	GM12878-XiMat	blood
12	chr14:55879600-55880400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:55879600-55881400	Weak transcription	Fetal Heart	heart
14	chr14:55879600-55884000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:55879800-55880800	Enhancers	Hela-S3	cervix
16	chr14:55879800-55883800	Weak transcription	K562	blood
17	chr14:55879800-55885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:55880000-55880600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:55880200-55880600	Enhancers	NHEK	skin
20	chr14:55880400-55880600	Enhancers	Liver	Liver
21	chr14:55880600-55880800	Enhancers	Psoas Muscle	Psoas
22	chr14:55880600-55880800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:55881400-55882000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links