Variant report

Variant	nsv1049308
Chromosome Location	chr14:24444966-24479697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:587)
CpG islands
(count:1159)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:24458816-24459305	GM12878	blood:	n/a	n/a
2	BACH1	chr14:24458105-24458174	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:24476252-24476312	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr14:24458871-24459266	GM12878	blood:	n/a	n/a
5	BATF	chr14:24458905-24459223	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:24456162-24456216	HepG2	liver:	n/a	n/a
7	BHLHE40	chr14:24475943-24476541	HepG2	liver:	n/a	n/a
8	CBX3	chr14:24476155-24476416	K562	blood:	n/a	n/a
9	CEBPB	chr14:24454143-24454908	A549	lung:	n/a	chr14:24454690-24454701
10	CEBPB	chr14:24454491-24454833	Hela-S3	cervix:	n/a	chr14:24454690-24454701
11	CEBPB	chr14:24454350-24454830	A549	lung:	n/a	chr14:24454690-24454701
12	CEBPB	chr14:24456316-24456341	HepG2	liver:	n/a	n/a
13	CEBPB	chr14:24454165-24454464	MCF-7	breast:	n/a	n/a
14	CEBPB	chr14:24454506-24454789	A549	lung:	n/a	chr14:24454690-24454701
15	CEBPB	chr14:24454237-24454396	HepG2	liver:	n/a	n/a
16	CEBPB	chr14:24454258-24454790	MCF-7	breast:	n/a	chr14:24454690-24454701
17	CEBPB	chr14:24454359-24454892	IMR90	lung:	n/a	chr14:24454690-24454701
18	CEBPB	chr14:24454306-24454822	HepG2	liver:	n/a	chr14:24454690-24454701
19	CEBPB	chr14:24454542-24454918	MCF-7	breast:	n/a	chr14:24454690-24454701
20	CEBPD	chr14:24475992-24476248	HepG2	liver:	n/a	n/a
21	CEBPD	chr14:24455859-24456293	HepG2	liver:	n/a	n/a
22	CEBPD	chr14:24457723-24458280	HepG2	liver:	n/a	n/a
23	CEBPD	chr14:24457835-24458170	HepG2	liver:	n/a	n/a
24	CHD2	chr14:24457926-24458005	Hela-S3	cervix:	n/a	chr14:24457984-24457994
25	CTCF	chr14:24457937-24458015	Lung_OC	lung:	n/a	n/a
26	CTCF	chr14:24446580-24446730	SAEC	small airway:	n/a	n/a
27	CTCF	chr14:24446534-24446650	GM19240	blood:	n/a	n/a
28	CTCF	chr14:24446510-24446675	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:24446500-24446650	HCFaa	heart:	n/a	n/a
30	CTCF	chr14:24446500-24446650	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr14:24446600-24446750	GM06990	blood:	n/a	n/a
32	CTCF	chr14:24446568-24446665	GM12878	blood:	n/a	n/a
33	CTCF	chr14:24446600-24446750	RPTEC	kidney:	n/a	n/a
34	CTCF	chr14:24446600-24446750	GM12873	blood:	n/a	n/a
35	CTCF	chr14:24458380-24458530	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr14:24446580-24446730	RPTEC	kidney:	n/a	n/a
37	CTCF	chr14:24446580-24446730	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr14:24446500-24446650	AG09319	gingival:	n/a	n/a
39	CTCF	chr14:24446520-24446693	Lung_OC	lung:	n/a	n/a
40	CTCF	chr14:24446580-24446730	AG10803	skin:	n/a	n/a
41	CTCF	chr14:24454220-24454370	AG10803	skin:	n/a	n/a
42	CTCF	chr14:24446380-24446530	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr14:24446380-24446530	A549	lung:	n/a	n/a
44	CTCF	chr14:24446500-24446650	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr14:24446524-24446673	GM19238	blood:	n/a	n/a
46	CTCF	chr14:24446516-24446675	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:24446580-24446730	GM12875	blood:	n/a	n/a
48	CTCF	chr14:24446040-24446190	GM12873	blood:	n/a	n/a
49	CTCF	chr14:24457641-24457700	Hela-S3	cervix:	n/a	chr14:24457659-24457668
50	CTCF	chr14:24446380-24446530	HCT-116	colon:	n/a	n/a

(count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24475906-24475956	NB4	blood:	n/a
2	chr14:24457993-24458043	NT2-D1	testis:	n/a
3	chr14:24458208-24458258	NHDF-neo	bronchial:	n/a
4	chr14:24457509-24457559	A549	lung:	n/a
5	chr14:24457893-24457943	AG04449	skin:	fetal
6	chr14:24458345-24458395	Hepatocyte	liver:	n/a
7	chr14:24457993-24458043	AG10803	skin:	n/a
8	chr14:24478620-24478670	HUVEC	blood vessel:	n/a
9	chr14:24458208-24458258	K562	blood:	n/a
10	chr14:24458000-24458050	AG10803	skin:	n/a
11	chr14:24476082-24476132	HL-60	blood:	n/a
12	chr14:24454443-24454493	AG09319	gingival:	n/a
13	chr14:24457509-24457559	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:24458299-24458349	GM12892	blood:	n/a
15	chr14:24458345-24458395	MCF10A-Er-Src	breast:	n/a
16	chr14:24475906-24475956	GM12892	blood:	n/a
17	chr14:24457993-24458043	AG09309	skin:	n/a
18	chr14:24476082-24476132	SK-N-SH_RA	brain:	n/a
19	chr14:24475053-24475103	AG09319	gingival:	n/a
20	chr14:24476478-24476528	NT2-D1	testis:	n/a
21	chr14:24478620-24478670	HNPCEpiC	eye:	n/a
22	chr14:24457915-24457965	GM12892	blood:	n/a
23	chr14:24458000-24458050	T-47D	breast:	n/a
24	chr14:24476559-24476609	T-47D	breast:	n/a
25	chr14:24475906-24475956	MCF-7	breast:	n/a
26	chr14:24458299-24458349	HPAEpiC	pulmonary alveolar:	n/a
27	chr14:24458208-24458258	PFSK-1	brain:	n/a
28	chr14:24476559-24476609	GM19239	blood:	n/a
29	chr14:24476559-24476609	K562	blood:	n/a
30	chr14:24458014-24458064	NH-A	brain:	n/a
31	chr14:24457893-24457943	HEK293	kidney:	embryo
32	chr14:24457915-24457965	HAEpiC	amniotic membrane:	n/a
33	chr14:24458345-24458395	ECC-1	luminal epithelium:	n/a
34	chr14:24458299-24458349	LNCaP	prostate:	n/a
35	chr14:24457509-24457559	GM12891	blood:	n/a
36	chr14:24473832-24473882	GM12878	blood:	n/a
37	chr14:24458299-24458349	AG04449	skin:	fetal
38	chr14:24476082-24476132	HEK293	kidney:	embryo
39	chr14:24457993-24458043	HepG2	liver:	n/a
40	chr14:24478620-24478670	U87	brain:	n/a
41	chr14:24476559-24476609	CMK	blood:	n/a
42	chr14:24476082-24476132	HCF	heart:	n/a
43	chr14:24458299-24458349	HIPEpiC	eye:	n/a
44	chr14:24458099-24458149	AG04450	lung:	fetal
45	chr14:24476082-24476132	MCF10A-Er-Src	breast:	n/a
46	chr14:24458099-24458149	HUVEC	blood vessel:	n/a
47	chr14:24458299-24458349	SK-N-MC	brain:	n/a
48	chr14:24458345-24458395	AoSMC	blood vessel:	n/a
49	chr14:24458004-24458054	IMR90	lung:	fetal
50	chr14:24458345-24458395	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24476695..24479385-chr14:24563251..24564763,2	MCF-7	breast:
2	chr14:24452194..24454763-chr14:24457643..24460471,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRL-1	chr14:24457938-24458048	ENSG00000215256.3

No data

Variant related genes	Relation type
DHRS4-AS1	TF binding region
DHRS4L2	TF binding region
DHRS4-AS1	CpG island
DHRS4L2	CpG island
ENSG00000129535	chromatin interactions
ENSG00000215256	chromatin interactions
ENSG00000187630	chromatin interactions
ENSG00000100889	chromatin interactions

Extended variants
information (count: 1720 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1720 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375424195	chr14:24444974-24444975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182606475	chr14:24444980-24444981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188024350	chr14:24445013-24445014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146813942	chr14:24445029-24445030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113652985	chr14:24445030-24445031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140631296	chr14:24445042-24445043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75282871	chr14:24445049-24445050	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs151044743	chr14:24445071-24445072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551219648	chr14:24445086-24445087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571506971	chr14:24445103-24445104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536989881	chr14:24445132-24445133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372900963	chr14:24445147-24445148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556498904	chr14:24445183-24445184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569984146	chr14:24445264-24445265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535916459	chr14:24445389-24445390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192296222	chr14:24445407-24445408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568220541	chr14:24445420-24445421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572631919	chr14:24445428-24445429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111447845	chr14:24445439-24445440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370009327	chr14:24445445-24445446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558116056	chr14:24445467-24445468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564027411	chr14:24445471-24445472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578181131	chr14:24445497-24445498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185790808	chr14:24445518-24445519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376141645	chr14:24445568-24445569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563263398	chr14:24445571-24445572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556945342	chr14:24445599-24445600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542270862	chr14:24445654-24445655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187821706	chr14:24445658-24445659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568848784	chr14:24445662-24445663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369807981	chr14:24445664-24445665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551155801	chr14:24445686-24445687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564959678	chr14:24445690-24445691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530818379	chr14:24445700-24445701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539094214	chr14:24445716-24445717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192208630	chr14:24445731-24445732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535861143	chr14:24445811-24445812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549441321	chr14:24445817-24445818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566175379	chr14:24445844-24445845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140869150	chr14:24445882-24445883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2877592	chr14:24445944-24445945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558317236	chr14:24445980-24445981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578123583	chr14:24446000-24446001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59807795	chr14:24446001-24446002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs4048588	chr14:24446015-24446016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138787577	chr14:24446018-24446019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573259491	chr14:24446028-24446029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542204198	chr14:24446036-24446037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145741258	chr14:24446051-24446052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184435902	chr14:24446071-24446072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24424000-24458000	Weak transcription	Primary T cells from cord blood	blood
2	chr14:24439400-24446400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:24439400-24450000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:24439400-24451000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr14:24439400-24451200	Weak transcription	Pancreas	Pancrea
6	chr14:24439400-24457600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:24440000-24453600	Weak transcription	Dnd41	blood
8	chr14:24442800-24456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:24445000-24446400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:24445200-24454600	Weak transcription	Thymus	Thymus
11	chr14:24445200-24456200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:24445400-24446000	Weak transcription	Gastric	stomach
13	chr14:24446000-24446200	Enhancers	Gastric	stomach
14	chr14:24446200-24458000	Weak transcription	Gastric	stomach
15	chr14:24446400-24446600	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:24446400-24446800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:24446400-24446800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr14:24446400-24447200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:24446600-24457400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:24448000-24457400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:24448400-24457400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:24450000-24450400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:24450000-24452000	Enhancers	Fetal Intestine Large	intestine
24	chr14:24450000-24452000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:24450400-24454200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr14:24450400-24457400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:24450400-24457600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:24450800-24452200	Enhancers	HepG2	liver
29	chr14:24451000-24451400	Enhancers	Fetal Intestine Small	intestine
30	chr14:24451000-24451400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr14:24451200-24451400	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:24451200-24451600	Enhancers	Pancreas	Pancrea
33	chr14:24451200-24451800	Enhancers	Liver	Liver
34	chr14:24451400-24453800	Weak transcription	Fetal Intestine Small	intestine
35	chr14:24451400-24453800	Weak transcription	Fetal Thymus	thymus
36	chr14:24451400-24454400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:24451600-24454600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:24451800-24457400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:24452000-24455400	Weak transcription	Fetal Intestine Large	intestine
40	chr14:24452000-24455800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:24452200-24454000	Weak transcription	HepG2	liver
42	chr14:24452600-24457600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:24453600-24453800	Enhancers	Esophagus	oesophagus
44	chr14:24453600-24453800	Enhancers	Small Intestine	intestine
45	chr14:24453600-24457600	Enhancers	Dnd41	blood
46	chr14:24453800-24455200	Weak transcription	Esophagus	oesophagus
47	chr14:24453800-24456400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:24453800-24456400	Enhancers	Fetal Intestine Small	intestine
49	chr14:24453800-24457000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:24453800-24457000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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