Variant report

Variant	nsv983812
Chromosome Location	chr14:31928328-31932639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:31931743-31931925	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr14:31932571-31932618	HepG2	liver:	n/a	n/a
3	MAFK	chr14:31929491-31929715	HepG2	liver:	n/a	n/a
4	MAZ	chr14:31931419-31931457	HepG2	liver:	n/a	n/a
5	USF2	chr14:31931245-31931279	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:31929696-31929746	ECC-1	luminal epithelium:	n/a
2	chr14:31929696-31929746	AG04450	lung:	fetal
3	chr14:31929696-31929746	K562	blood:	n/a
4	chr14:31929696-31929746	HRPEpiC	eye:	n/a
5	chr14:31929696-31929746	MCF-7	breast:	n/a
6	chr14:31929696-31929746	AoSMC	blood vessel:	n/a
7	chr14:31929696-31929746	SK-N-MC	brain:	n/a
8	chr14:31929696-31929746	HL-60	blood:	n/a
9	chr14:31929696-31929746	A549	lung:	n/a
10	chr14:31929696-31929746	GM12878	blood:	n/a
11	chr14:31929696-31929746	PANC-1	pancreas:	n/a
12	chr14:31929696-31929746	HCF	heart:	n/a
13	chr14:31929696-31929746	CMK	blood:	n/a
14	chr14:31929696-31929746	GM12892	blood:	n/a
15	chr14:31929696-31929746	HAEpiC	amniotic membrane:	n/a
16	chr14:31929696-31929746	BE2_C	brain:	n/a
17	chr14:31929696-31929746	HCT-116	colon:	n/a
18	chr14:31929696-31929746	HEK293	kidney:	embryo
19	chr14:31929696-31929746	PrEC	prostate:	n/a
20	chr14:31929696-31929746	AG04449	skin:	fetal
21	chr14:31929696-31929746	MCF10A-Er-Src	breast:	n/a
22	chr14:31929696-31929746	HRE	kidney:	n/a
23	chr14:31929696-31929746	GM06990	blood:	n/a
24	chr14:31929696-31929746	T-47D	breast:	n/a
25	chr14:31929696-31929746	SK-N-SH_RA	brain:	n/a
26	chr14:31929696-31929746	GM19239	blood:	n/a
27	chr14:31929696-31929746	Caco-2	colon:	n/a
28	chr14:31929696-31929746	HMEC	breast:	n/a
29	chr14:31929696-31929746	HCM	heart:	n/a
30	chr14:31929696-31929746	U87	brain:	n/a
31	chr14:31929696-31929746	ProgFib	skin:	n/a
32	chr14:31929696-31929746	HEEpiC	esophagus:	n/a
33	chr14:31929696-31929746	NT2-D1	testis:	n/a
34	chr14:31929696-31929746	HRCEpiC	kidney:	n/a
35	chr14:31929696-31929746	NH-A	brain:	n/a
36	chr14:31929696-31929746	ovcar-3	ovarian:	n/a
37	chr14:31929696-31929746	HIPEpiC	eye:	n/a
38	chr14:31929696-31929746	Hepatocyte	liver:	n/a
39	chr14:31929696-31929746	GM12891	blood:	n/a
40	chr14:31929696-31929746	HUVEC	blood vessel:	n/a
41	chr14:31929696-31929746	AG09309	skin:	n/a
42	chr14:31929696-31929746	NHDF-neo	bronchial:	n/a
43	chr14:31929696-31929746	SK-N-SH	brain:	n/a
44	chr14:31929696-31929746	HNPCEpiC	eye:	n/a
45	chr14:31929696-31929746	RPTEC	kidney:	n/a
46	chr14:31929696-31929746	Hela-S3	cervix:	n/a
47	chr14:31929696-31929746	H1-hESC	embryonic stem cell:	embryo
48	chr14:31929696-31929746	SAEC	small airway:	n/a
49	chr14:31929696-31929746	IMR90	lung:	fetal
50	chr14:31929696-31929746	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf126-7	chr14:31932001-31932577	NONHSAT036283

No data

Variant related genes	Relation type
ENSG00000203546	TF binding region
DTD2	TF binding region
ENSG00000239323	TF binding region
ENSG00000203546	CpG island
DTD2	CpG island
ENSG00000239323	CpG island
ENSG00000129493	chromatin interactions
ENSG00000250365	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76581994	chr14:31928377-31928378	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs74696866	chr14:31928414-31928415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149379283	chr14:31928449-31928450	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115908919	chr14:31928471-31928472	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79729319	chr14:31928487-31928488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144706321	chr14:31928511-31928512	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112068453	chr14:31928577-31928578	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs187335278	chr14:31928624-31928625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138389699	chr14:31928631-31928632	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs1888576	chr14:31928656-31928657	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs368334963	chr14:31928658-31928659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191390204	chr14:31928703-31928704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs183919166	chr14:31928748-31928749	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542219559	chr14:31928811-31928812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563694786	chr14:31928871-31928872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548586535	chr14:31928875-31928876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144033123	chr14:31928960-31928961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537591946	chr14:31929009-31929010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559089240	chr14:31929045-31929046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577363655	chr14:31929090-31929091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535238820	chr14:31929107-31929108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553569136	chr14:31929155-31929156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575095779	chr14:31929164-31929165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575974316	chr14:31929165-31929166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542134991	chr14:31929169-31929170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563332992	chr14:31929251-31929252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111498440	chr14:31929252-31929253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545543366	chr14:31929289-31929290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544870090	chr14:31929290-31929291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12431459	chr14:31929303-31929304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147294108	chr14:31929309-31929310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546187643	chr14:31929320-31929321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72116313	chr14:31929322-31929323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368055636	chr14:31929325-31929326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12431462	chr14:31929329-31929330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386776107	chr14:31929330-31929331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111626901	chr14:31929331-31929332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11424358	chr14:31929332-31929333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80093496	chr14:31929335-31929336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397940835	chr14:31929340-31929341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540055364	chr14:31929365-31929366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561518301	chr14:31929399-31929400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529216074	chr14:31929404-31929405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550590418	chr14:31929413-31929414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28706483	chr14:31929414-31929415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201464273	chr14:31929415-31929416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28441200	chr14:31929419-31929420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10129808	chr14:31929457-31929458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10129585	chr14:31929458-31929459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570078872	chr14:31929489-31929490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31926800-31931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31927200-31931000	Weak transcription	HMEC	breast
3	chr14:31927200-31939000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:31927400-31931000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:31927400-31931000	Weak transcription	Primary B cells from cord blood	blood
6	chr14:31927400-31931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:31927600-31928400	Enhancers	Fetal Heart	heart
8	chr14:31927600-31930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:31927600-31931000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:31927800-31928600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:31927800-31928600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:31927800-31928600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:31927800-31928600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:31927800-31928800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:31927800-31930800	Weak transcription	NHEK	skin
16	chr14:31927800-31931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:31927800-31931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:31927800-31934200	Weak transcription	Osteobl	bone
19	chr14:31927800-31939400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:31928000-31928400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:31928000-31928400	Enhancers	Fetal Brain Female	brain
22	chr14:31928000-31928400	Enhancers	HepG2	liver
23	chr14:31928000-31934400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:31928000-31934800	Weak transcription	Adipose Nuclei	Adipose
25	chr14:31928600-31931000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:31928600-31931200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:31928600-31932600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:31929000-31929200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:31930400-31931200	Bivalent Enhancer	HepG2	liver
30	chr14:31930600-31932800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:31930800-31932800	Enhancers	NHEK	skin
32	chr14:31931000-31931200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:31931000-31931400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:31931000-31931400	Enhancers	Primary B cells from cord blood	blood
35	chr14:31931000-31931400	Enhancers	Primary B cells from peripheral blood	blood
36	chr14:31931000-31931600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:31931000-31931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:31931000-31932200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:31931000-31932400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:31931000-31932600	Enhancers	HMEC	breast
41	chr14:31931200-31931600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:31931200-31931800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:31931600-31932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:31931600-31934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:31932000-31932600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:31932600-31932800	Enhancers	Cortex derived primary cultured neurospheres	brain

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