Variant report

Variant	nsv510641
Chromosome Location	chr14:67214977-67226602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67224984-67225061	HepG2	liver:	n/a	n/a
2	ATF2	chr14:67218758-67219207	GM12878	blood:	n/a	n/a
3	ATF2	chr14:67218740-67219290	GM12878	blood:	n/a	n/a
4	BATF	chr14:67218719-67219305	GM12878	blood:	n/a	n/a
5	BATF	chr14:67218778-67219263	GM12878	blood:	n/a	n/a
6	BCL11A	chr14:67219021-67219287	GM12878	blood:	n/a	n/a
7	BCL11A	chr14:67218813-67219271	GM12878	blood:	n/a	n/a
8	BHLHE40	chr14:67218905-67219220	GM12878	blood:	n/a	n/a
9	CTCF	chr14:67225000-67225150	HCT-116	colon:	n/a	n/a
10	CTCF	chr14:67225075-67225182	Gliobla	brain:	n/a	n/a
11	CTCF	chr14:67225105-67225217	ProgFib	skin:	n/a	n/a
12	CTCF	chr14:67224992-67225265	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:67225020-67225170	HMF	breast:	n/a	n/a
14	CTCF	chr14:67225040-67225190	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr14:67225075-67225187	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr14:67225040-67225190	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr14:67225080-67225230	HepG2	liver:	n/a	n/a
18	CTCF	chr14:67225040-67225190	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr14:67225040-67225190	HMEC	breast:	n/a	n/a
20	CTCF	chr14:67225000-67225150	HCFaa	heart:	n/a	n/a
21	CTCF	chr14:67225220-67225370	GM12872	blood:	n/a	n/a
22	CTCF	chr14:67225095-67225193	HepG2	liver:	n/a	n/a
23	CTCF	chr14:67225120-67225270	GM12873	blood:	n/a	n/a
24	CTCF	chr14:67225056-67225226	K562	blood:	n/a	n/a
25	CTCF	chr14:67225080-67225230	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr14:67225084-67225134	Medullo	brain:	n/a	n/a
27	CTCF	chr14:67225060-67225210	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr14:67225040-67225190	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:67225080-67225230	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chr14:67225140-67225290	HVMF	connective:	n/a	n/a
31	CTCF	chr14:67225078-67225079	Medullo	brain:	n/a	n/a
32	CTCF	chr14:67225040-67225190	A549	lung:	n/a	n/a
33	CTCF	chr14:67225010-67225181	HepG2	liver:	n/a	n/a
34	CTCF	chr14:67225000-67225150	SAEC	small airway:	n/a	n/a
35	CTCF	chr14:67225060-67225210	HEK293	kidney:	n/a	n/a
36	CTCF	chr14:67225020-67225170	Caco-2	colon:	n/a	n/a
37	CTCF	chr14:67225060-67225210	NB4	blood:	n/a	n/a
38	CTCF	chr14:67224866-67225391	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:67225000-67225150	RPTEC	kidney:	n/a	n/a
40	CTCF	chr14:67224980-67225130	RPTEC	kidney:	n/a	n/a
41	CTCF	chr14:67225080-67225230	NHEK	skin:	n/a	n/a
42	CTCF	chr14:67224894-67225240	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr14:67225000-67225150	Caco-2	colon:	n/a	n/a
44	CTCF	chr14:67225080-67225230	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr14:67225040-67225190	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr14:67225100-67225250	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr14:67225080-67225230	HCM	heart:	n/a	n/a
48	CTCF	chr14:67225020-67225170	MCF-7	breast:	n/a	n/a
49	CTCF	chr14:67225046-67225114	GM20000	blood:	n/a	n/a
50	CTCF	chr14:67225040-67225190	HMF	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67221145..67223857-chr14:67240535..67242119,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258796	TF binding region

Extended variants
information (count: 389 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148979495	chr14:67214979-67214980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35036515	chr14:67214983-67214984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111958614	chr14:67215130-67215131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570274805	chr14:67215146-67215147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186292386	chr14:67215156-67215157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115542390	chr14:67215161-67215162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116355552	chr14:67215174-67215175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8008369	chr14:67215196-67215197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs545858374	chr14:67215222-67215223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554978411	chr14:67215226-67215227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541632939	chr14:67215230-67215231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574726483	chr14:67215238-67215239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189107802	chr14:67215239-67215240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574788417	chr14:67215269-67215270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556972297	chr14:67215270-67215271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151058419	chr14:67215305-67215306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111264784	chr14:67215313-67215314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552801249	chr14:67215342-67215343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559090509	chr14:67215361-67215362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528195787	chr14:67215402-67215403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542205799	chr14:67215407-67215408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541506785	chr14:67215429-67215430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561761391	chr14:67215437-67215438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530418597	chr14:67215544-67215545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550501142	chr14:67215631-67215632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570262996	chr14:67215660-67215661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532819326	chr14:67215663-67215664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552825681	chr14:67215677-67215678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181792467	chr14:67215699-67215700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566254321	chr14:67215762-67215763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113326088	chr14:67215776-67215777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560301491	chr14:67215796-67215797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141451869	chr14:67215810-67215811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568488670	chr14:67215838-67215839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537054200	chr14:67215883-67215884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540937971	chr14:67215958-67215959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557284996	chr14:67215972-67215973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576745300	chr14:67215978-67215979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191332379	chr14:67215998-67215999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552779185	chr14:67216058-67216059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572689108	chr14:67216068-67216069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541951972	chr14:67216070-67216071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146998548	chr14:67216076-67216077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6573721	chr14:67216110-67216111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs543880520	chr14:67216134-67216135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182698928	chr14:67216135-67216136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185132739	chr14:67216313-67216314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552889364	chr14:67216336-67216337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189593331	chr14:67216358-67216359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138058988	chr14:67216433-67216434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67208200-67219400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67212200-67218600	Weak transcription	GM12878-XiMat	blood
3	chr14:67213800-67215400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:67214000-67224600	Weak transcription	Liver	Liver
5	chr14:67214800-67216200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:67215400-67217200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:67216200-67216400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr14:67216400-67223200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:67217000-67217600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:67217200-67218800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:67217800-67224600	Weak transcription	Pancreas	Pancrea
12	chr14:67218600-67218800	Flanking Active TSS	GM12878-XiMat	blood
13	chr14:67218800-67219000	Enhancers	GM12878-XiMat	blood
14	chr14:67218800-67219400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:67219000-67219200	Flanking Active TSS	GM12878-XiMat	blood
16	chr14:67219200-67219600	Enhancers	GM12878-XiMat	blood
17	chr14:67223200-67223400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr14:67224400-67225600	Enhancers	HepG2	liver
19	chr14:67224600-67225400	Enhancers	Liver	Liver
20	chr14:67224600-67225400	Enhancers	Duodenum Mucosa	Duodenum
21	chr14:67224600-67225400	Enhancers	Pancreas	Pancrea
22	chr14:67225200-67226400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr14:67225200-67226600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:67225400-67256400	Weak transcription	Pancreas	Pancrea

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