Variant report

Variant	nsv976343
Chromosome Location	chr14:56008662-56013656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr14:56012977-56013309	GM12878	blood:	n/a	chr14:56013151-56013162
2	BCL11A	chr14:56012934-56013383	GM12878	blood:	n/a	n/a
3	CTCF	chr14:56010480-56010630	HBMEC	blood vessel:	n/a	n/a
4	CUX1	chr14:56012562-56013345	GM12878	blood:	n/a	n/a
5	EBF1	chr14:56013025-56013432	GM12878	blood:	n/a	n/a
6	EP300	chr14:56012693-56013440	GM12878	blood:	n/a	n/a
7	EP300	chr14:56009755-56010283	A549	lung:	n/a	n/a
8	EP300	chr14:56012908-56013481	GM12878	blood:	n/a	n/a
9	EP300	chr14:56006091-56009536	SK-N-SH	brain:	n/a	n/a
10	EP300	chr14:56012839-56013290	GM12878	blood:	n/a	n/a
11	FOXA1	chr14:56009754-56010165	A549	lung:	n/a	n/a
12	FOXA1	chr14:56013581-56013898	T-47D	breast:	n/a	n/a
13	FOXA1	chr14:56009738-56010187	A549	lung:	n/a	n/a
14	GATA3	chr14:56007307-56008678	MCF-7	breast:	n/a	n/a
15	GATA3	chr14:56009688-56010407	A549	lung:	n/a	n/a
16	IKZF1	chr14:56012892-56013404	GM12878	blood:	n/a	n/a
17	MEF2A	chr14:56012922-56013291	GM12878	blood:	n/a	n/a
18	NFIC	chr14:56013636-56013958	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr14:56013524-56013970	ECC-1	luminal epithelium:	n/a	n/a
20	NFIC	chr14:56013397-56014558	ECC-1	luminal epithelium:	n/a	chr14:56014177-56014193
21	NFIC	chr14:56013458-56013976	SK-N-SH	brain:	n/a	n/a
22	NR3C1	chr14:56009765-56010080	A549	lung:	n/a	n/a
23	NR3C1	chr14:56009859-56010028	ECC-1	luminal epithelium:	n/a	n/a
24	NR3C1	chr14:56009669-56010203	A549	lung:	n/a	n/a
25	NR3C1	chr14:56009781-56010080	A549	lung:	n/a	n/a
26	POLR2A	chr14:56013322-56013420	Gliobla	brain:	n/a	n/a
27	POLR2A	chr14:56010505-56010655	A549	lung:	n/a	n/a
28	SP1	chr14:56009741-56010262	A549	lung:	n/a	n/a
29	SP1	chr14:56009779-56010307	A549	lung:	n/a	n/a
30	SPI1	chr14:56012559-56012768	GM12878	blood:	n/a	n/a
31	SPI1	chr14:56012550-56012824	GM12891	blood:	n/a	n/a
32	SPI1	chr14:56013212-56013497	GM12891	blood:	n/a	n/a
33	SPI1	chr14:56012543-56012812	GM12891	blood:	n/a	n/a
34	SPI1	chr14:56013211-56013534	GM12878	blood:	n/a	n/a
35	SPI1	chr14:56012551-56012792	HL-60	blood:	n/a	n/a
36	SPI1	chr14:56013115-56013575	GM12891	blood:	n/a	n/a
37	STAT1	chr14:56012006-56012115	GM12878	blood:	n/a	n/a
38	TCF12	chr14:56009748-56010358	A549	lung:	n/a	n/a
39	YY1	chr14:56013262-56013495	GM12878	blood:	n/a	chr14:56013389-56013399
40	ZNF143	chr14:56013183-56013372	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:56007987..56009584-chr14:56010088..56012589,2	MCF-7	breast:
2	chr14:56010848..56011450-chr15:45879305..45879811,2	Hela-S3	cervix:
3	chr14:55913599..55916759-chr14:56004997..56009666,4	MCF-7	breast:
4	chr14:55964950..55967727-chr14:56010356..56012905,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271484	TF binding region
RPL7AP4	TF binding region
ENSG00000213641	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000260170	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183331219	chr14:56008664-56008665	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs187633700	chr14:56008682-56008683	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs193056561	chr14:56008715-56008716	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs369572953	chr14:56008725-56008726	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373520101	chr14:56008740-56008741	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs34946882	chr14:56008756-56008757	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574508624	chr14:56008757-56008758	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs528679377	chr14:56008770-56008771	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs183796679	chr14:56008798-56008799	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs113237806	chr14:56008823-56008824	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs188329651	chr14:56008836-56008837	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs545027341	chr14:56008848-56008849	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs574874752	chr14:56008914-56008915	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs563212695	chr14:56008955-56008956	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs554249857	chr14:56008974-56008975	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs193000750	chr14:56009069-56009070	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs78116499	chr14:56009092-56009093	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs146704105	chr14:56009127-56009128	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs183992233	chr14:56009141-56009142	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs531621459	chr14:56009203-56009204	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188333464	chr14:56009221-56009222	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs4901584	chr14:56009235-56009236	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs202230816	chr14:56009299-56009300	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs560087629	chr14:56009307-56009308	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs191297452	chr14:56009337-56009338	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs548650848	chr14:56009343-56009344	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs529528336	chr14:56009354-56009355	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs567533130	chr14:56009364-56009365	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538023036	chr14:56009463-56009464	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs115047803	chr14:56009524-56009525	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs138471942	chr14:56009531-56009532	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs539310326	chr14:56009552-56009553	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149259736	chr14:56009559-56009560	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79733420	chr14:56009571-56009572	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572388154	chr14:56009577-56009578	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536361546	chr14:56009580-56009581	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527781827	chr14:56009581-56009582	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551813874	chr14:56009589-56009590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185007197	chr14:56009634-56009635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571904807	chr14:56009635-56009636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144495567	chr14:56009636-56009637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562660948	chr14:56009762-56009763	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs190751589	chr14:56009763-56009764	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs545268814	chr14:56009778-56009779	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs530946887	chr14:56009805-56009806	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs559929707	chr14:56009875-56009876	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs4901585	chr14:56009877-56009878	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs8010001	chr14:56009881-56009882	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs560603731	chr14:56009890-56009891	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs567856774	chr14:56009892-56009893	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Medulloblastoma	21163964	CNVD
Cancer	20164919	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55999800-56020400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:56001000-56009400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:56006000-56010200	Weak transcription	HSMMtube	muscle
4	chr14:56006200-56009000	Enhancers	Hela-S3	cervix
5	chr14:56006800-56009000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:56007200-56010000	Weak transcription	Fetal Heart	heart
7	chr14:56007400-56009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:56007600-56008800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:56007600-56009400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:56007600-56010400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:56007800-56008800	Enhancers	NH-A	brain
12	chr14:56007800-56010400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:56008200-56009200	Weak transcription	HSMM	muscle
14	chr14:56008200-56009400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:56008400-56009400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:56008400-56009400	Enhancers	A549	lung
17	chr14:56008400-56010600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:56008600-56014200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:56008800-56009800	Weak transcription	NH-A	brain
20	chr14:56008800-56014200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:56009000-56010000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:56009000-56020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:56009200-56010800	Enhancers	HSMM	muscle
24	chr14:56009400-56009600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:56009400-56009600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:56009400-56009800	Weak transcription	A549	lung
27	chr14:56009400-56010000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:56009400-56010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:56009400-56010600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:56009400-56010600	Enhancers	Placenta	Placenta
31	chr14:56009600-56010000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:56009600-56010200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:56009800-56010000	Enhancers	NH-A	brain
34	chr14:56009800-56010400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:56009800-56010800	Enhancers	A549	lung
36	chr14:56010000-56010200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:56010000-56010200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:56010000-56010600	Enhancers	Fetal Muscle Leg	muscle
39	chr14:56010000-56010600	Enhancers	Right Ventricle	heart
40	chr14:56010000-56010600	Enhancers	Osteobl	bone
41	chr14:56010000-56010800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:56010000-56010800	Enhancers	Fetal Heart	heart
43	chr14:56010000-56010800	Enhancers	Fetal Muscle Trunk	muscle
44	chr14:56010200-56010800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:56010200-56010800	Enhancers	HSMMtube	muscle
46	chr14:56010400-56010600	Enhancers	Left Ventricle	heart
47	chr14:56010400-56010800	Enhancers	Pancreas	Pancrea
48	chr14:56010600-56014400	Weak transcription	Osteobl	bone
49	chr14:56010600-56026600	Weak transcription	Right Ventricle	heart
50	chr14:56010800-56013200	Weak transcription	Pancreas	Pancrea

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