Variant report

Variant	nsv565030
Chromosome Location	chr14:70688352-70690877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:70690400-70690968	K562	blood:	n/a	n/a
2	BHLHE40	chr14:70690031-70690525	K562	blood:	n/a	n/a
3	CBX3	chr14:70690533-70690798	K562	blood:	n/a	n/a
4	CEBPB	chr14:70690132-70690487	K562	blood:	n/a	n/a
5	CEBPB	chr14:70690311-70690379	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr14:70690174-70690468	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:70690188-70690384	A549	lung:	n/a	n/a
8	CHD2	chr14:70690339-70690646	K562	blood:	n/a	n/a
9	CHD2	chr14:70690629-70690641	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr14:70690580-70690730	HEK293	kidney:	n/a	n/a
11	CTCF	chr14:70690560-70690710	HPF	lung:	n/a	n/a
12	CTCF	chr14:70690540-70690690	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr14:70690540-70690690	GM12868	blood:	n/a	n/a
14	CTCF	chr14:70690571-70690706	GM19240	blood:	n/a	n/a
15	CTCF	chr14:70690580-70690730	A549	lung:	n/a	n/a
16	CTCF	chr14:70690571-70690686	GM12878	blood:	n/a	n/a
17	CTCF	chr14:70690620-70690770	HRE	kidney:	n/a	n/a
18	CTCF	chr14:70690600-70690750	HAc	cerebellar:	n/a	n/a
19	CTCF	chr14:70690580-70690730	HepG2	liver:	n/a	n/a
20	CTCF	chr14:70690600-70690750	GM12869	blood:	n/a	n/a
21	CTCF	chr14:70690439-70690752	K562	blood:	n/a	n/a
22	CTCF	chr14:70690536-70690712	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:70690520-70690670	K562	blood:	n/a	n/a
24	CTCF	chr14:70690600-70690750	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr14:70690540-70690690	BE2_C	brain:	n/a	n/a
26	CTCF	chr14:70690271-70690824	K562	blood:	n/a	n/a
27	CTCF	chr14:70690600-70690750	HEK293	kidney:	n/a	n/a
28	CTCF	chr14:70690600-70690750	GM12871	blood:	n/a	n/a
29	CTCF	chr14:70690560-70690710	NB4	blood:	n/a	n/a
30	CTCF	chr14:70690394-70690787	K562	blood:	n/a	n/a
31	CTCF	chr14:70690552-70690696	HepG2	liver:	n/a	n/a
32	CTCF	chr14:70690580-70690730	GM12878	blood:	n/a	n/a
33	CTCF	chr14:70690580-70690730	GM12871	blood:	n/a	n/a
34	CTCF	chr14:70690600-70690750	K562	blood:	n/a	n/a
35	CTCF	chr14:70690600-70690750	GM12878	blood:	n/a	n/a
36	CTCF	chr14:70690643-70690682	HepG2	liver:	n/a	n/a
37	CTCF	chr14:70690451-70690493	K562	blood:	n/a	n/a
38	CTCF	chr14:70690441-70690790	GM12878	blood:	n/a	n/a
39	CTCF	chr14:70690540-70690690	GM12874	blood:	n/a	n/a
40	CTCF	chr14:70690440-70690590	BE2_C	brain:	n/a	n/a
41	CTCF	chr14:70690476-70690754	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr14:70690498-70690737	K562	blood:	n/a	n/a
43	CTCF	chr14:70690546-70690652	GM12891	blood:	n/a	n/a
44	CTCF	chr14:70690600-70690750	HCM	heart:	n/a	n/a
45	CTCF	chr14:70690560-70690710	GM12874	blood:	n/a	n/a
46	CUX1	chr14:70690389-70690827	K562	blood:	n/a	n/a
47	E2F6	chr14:70690547-70690694	K562	blood:	n/a	n/a
48	ELF1	chr14:70690229-70690741	K562	blood:	n/a	n/a
49	ELF1	chr14:70690364-70690694	GM12878	blood:	n/a	n/a
50	EP300	chr14:70690232-70690860	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70690454-70690504	HNPCEpiC	eye:	n/a
2	chr14:70690538-70690588	NT2-D1	testis:	n/a
3	chr14:70690525-70690575	IMR90	lung:	fetal
4	chr14:70690538-70690588	GM12878	blood:	n/a
5	chr14:70690538-70690588	SK-N-SH_RA	brain:	n/a
6	chr14:70690538-70690588	SKMC	muscle:	n/a
7	chr14:70690525-70690575	HPAEpiC	pulmonary alveolar:	n/a
8	chr14:70690525-70690575	HepG2	liver:	n/a
9	chr14:70690454-70690504	HEEpiC	esophagus:	n/a
10	chr14:70690538-70690588	SAEC	small airway:	n/a
11	chr14:70690525-70690575	PrEC	prostate:	n/a
12	chr14:70690454-70690504	SK-N-SH	brain:	n/a
13	chr14:70690538-70690588	AG04450	lung:	fetal
14	chr14:70690538-70690588	A549	lung:	n/a
15	chr14:70690454-70690504	ECC-1	luminal epithelium:	n/a
16	chr14:70690454-70690504	HL-60	blood:	n/a
17	chr14:70690538-70690588	HRE	kidney:	n/a
18	chr14:70690525-70690575	ovcar-3	ovarian:	n/a
19	chr14:70690538-70690588	HMEC	breast:	n/a
20	chr14:70690525-70690575	NH-A	brain:	n/a
21	chr14:70690454-70690504	ovcar-3	ovarian:	n/a
22	chr14:70690538-70690588	NHDF-neo	bronchial:	n/a
23	chr14:70690538-70690588	HepG2	liver:	n/a
24	chr14:70690525-70690575	SKMC	muscle:	n/a
25	chr14:70690525-70690575	HRCEpiC	kidney:	n/a
26	chr14:70690454-70690504	Caco-2	colon:	n/a
27	chr14:70690525-70690575	Caco-2	colon:	n/a
28	chr14:70690538-70690588	HCPEpiC	choroid plexus:	n/a
29	chr14:70690454-70690504	HCF	heart:	n/a
30	chr14:70690538-70690588	PFSK-1	brain:	n/a
31	chr14:70690454-70690504	LNCaP	prostate:	n/a
32	chr14:70690538-70690588	T-47D	breast:	n/a
33	chr14:70690454-70690504	NT2-D1	testis:	n/a
34	chr14:70690454-70690504	PANC-1	pancreas:	n/a
35	chr14:70690525-70690575	ECC-1	luminal epithelium:	n/a
36	chr14:70690525-70690575	GM12891	blood:	n/a
37	chr14:70690454-70690504	RPTEC	kidney:	n/a
38	chr14:70690538-70690588	H1-hESC	embryonic stem cell:	embryo
39	chr14:70690538-70690588	IMR90	lung:	fetal
40	chr14:70690538-70690588	HCM	heart:	n/a
41	chr14:70690454-70690504	MCF10A-Er-Src	breast:	n/a
42	chr14:70690525-70690575	PFSK-1	brain:	n/a
43	chr14:70690538-70690588	AG09309	skin:	n/a
44	chr14:70690538-70690588	HL-60	blood:	n/a
45	chr14:70690525-70690575	HIPEpiC	eye:	n/a
46	chr14:70690538-70690588	AG10803	skin:	n/a
47	chr14:70690525-70690575	MCF-7	breast:	n/a
48	chr14:70690454-70690504	SKMC	muscle:	n/a
49	chr14:70690538-70690588	ProgFib	skin:	n/a
50	chr14:70690525-70690575	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70668752..70670788-chr14:70688180..70689726,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMOC1-2	chr14:70690493-70690565	ENSG00000258422
2	lnc-SMOC1-2	chr14:70690482-70690565	ENSG00000258422
3	lnc-SMOC1-2	chr14:70690724-70690914	ENSG00000258422

No data

Variant related genes	Relation type
ENSG00000258422	TF binding region
ENSG00000258422	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539119608	chr14:70688357-70688358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542901423	chr14:70688371-70688372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532749336	chr14:70688396-70688397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201095540	chr14:70688410-70688411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398077849	chr14:70688420-70688421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398099444	chr14:70688421-70688422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200624413	chr14:70688422-70688423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186079909	chr14:70688469-70688470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147570078	chr14:70688470-70688471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1364965	chr14:70688489-70688490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112094862	chr14:70688507-70688508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569430616	chr14:70688519-70688520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373868539	chr14:70688547-70688548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72731894	chr14:70688567-70688568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55802436	chr14:70688570-70688571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191324329	chr14:70688601-70688602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142048451	chr14:70688606-70688607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75609498	chr14:70688617-70688618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541650941	chr14:70688642-70688643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559950654	chr14:70688652-70688653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533484762	chr14:70688661-70688662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142135564	chr14:70688666-70688667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574261540	chr14:70688667-70688668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563715379	chr14:70688701-70688702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74062853	chr14:70688702-70688703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549313366	chr14:70688713-70688714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61979480	chr14:70688718-70688719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529154105	chr14:70688816-70688817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547212591	chr14:70688826-70688827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28592658	chr14:70688914-70688915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539181853	chr14:70688971-70688972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151195567	chr14:70689012-70689013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569680194	chr14:70689027-70689028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534290110	chr14:70689035-70689036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140252260	chr14:70689048-70689049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555301727	chr14:70689049-70689050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183227406	chr14:70689063-70689064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4902793	chr14:70689099-70689100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200718133	chr14:70689125-70689126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150353003	chr14:70689136-70689137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578204000	chr14:70689155-70689156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545568547	chr14:70689161-70689162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563637420	chr14:70689193-70689194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138093282	chr14:70689208-70689209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35028318	chr14:70689286-70689287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116177946	chr14:70689295-70689296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188633071	chr14:70689302-70689303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373352571	chr14:70689304-70689305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547274801	chr14:70689345-70689346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141134638	chr14:70689399-70689400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas
2	chr14:70687800-70689600	Weak transcription	K562	blood
3	chr14:70689600-70690800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:70689600-70690800	Active TSS	K562	blood
5	chr14:70689600-70691000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:70689800-70690200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:70689800-70690600	Active TSS	Primary hematopoietic stem cells	blood
8	chr14:70689800-70690800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:70689800-70690800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:70690000-70690200	Active TSS	Fetal Muscle Leg	muscle
11	chr14:70690000-70690600	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr14:70690000-70690600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:70690000-70690600	Active TSS	HSMM	muscle
14	chr14:70690000-70690600	Active TSS	NH-A	brain
15	chr14:70690000-70690800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:70690000-70691000	Active TSS	HSMMtube	muscle
17	chr14:70690200-70690400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr14:70690200-70690400	Active TSS	Placenta	Placenta
19	chr14:70690200-70690400	Bivalent/Poised TSS	Left Ventricle	heart
20	chr14:70690200-70690400	Active TSS	GM12878-XiMat	blood
21	chr14:70690200-70690600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:70690200-70690600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:70690200-70690600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:70690200-70690600	Active TSS	Brain Cingulate Gyrus	brain
25	chr14:70690200-70690600	Active TSS	Duodenum Mucosa	Duodenum
26	chr14:70690200-70690600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr14:70690200-70690600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
28	chr14:70690200-70690600	Active TSS	Fetal Thymus	thymus
29	chr14:70690200-70690600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
30	chr14:70690200-70690600	Bivalent/Poised TSS	NHEK	skin
31	chr14:70690200-70690800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:70690200-70690800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:70690200-70690800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:70690200-70690800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:70690200-70690800	Active TSS	Adipose Nuclei	Adipose
36	chr14:70690200-70690800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr14:70690200-70690800	Active TSS	Fetal Stomach	stomach
38	chr14:70690200-70690800	Active TSS	Psoas Muscle	Psoas
39	chr14:70690200-70690800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
40	chr14:70690400-70690600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr14:70690400-70690600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr14:70690400-70690600	Flanking Bivalent TSS/Enh	Placenta	Placenta
43	chr14:70690400-70690600	Enhancers	Gastric	stomach
44	chr14:70690400-70690600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
45	chr14:70690400-70690600	Active TSS	Pancreas	Pancrea
46	chr14:70690400-70690600	Flanking Active TSS	GM12878-XiMat	blood
47	chr14:70690600-70690800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:70690600-70690800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr14:70690600-70690800	Flanking Active TSS	Pancreas	Pancrea
50	chr14:70690600-70690800	Flanking Active TSS	HSMM	muscle

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