Variant report

Variant	nsv66951
Chromosome Location	chr14:38063536-38063538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
2	BHLHE40	chr14:38063300-38063721	HepG2	liver:	n/a	n/a
3	BHLHE40	chr14:38063317-38063788	K562	blood:	n/a	n/a
4	BRCA1	chr14:38063097-38063799	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr14:38063406-38063894	Hela-S3	cervix:	n/a	chr14:38063618-38063629
6	CHD1	chr14:38063425-38063845	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr14:38063370-38063743	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr14:38063491-38065864	HepG2	liver:	n/a	chr14:38065391-38065401
9	CREB1	chr14:38063234-38065884	HepG2	liver:	n/a	n/a
10	CTCF	chr14:38063376-38063715	HUVEC	blood vessel:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
11	CTCF	chr14:38063282-38063861	HCT-116	colon:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
12	CTCF	chr14:38063500-38063650	BJ	skin:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
13	CTCF	chr14:38063521-38063622	GM10248	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
14	CTCF	chr14:38063480-38063630	HRPEpiC	eye:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
15	CTCF	chr14:38063436-38063688	ProgFib	skin:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
16	CTCF	chr14:38063500-38063650	SK-N-SH_RA	brain:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
17	CTCF	chr14:38063467-38063643	H1-hESC	embryonic stem cell:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
18	CTCF	chr14:38063500-38063650	BE2_C	brain:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
19	CTCF	chr14:38063500-38063650	HEK293	kidney:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
20	CTCF	chr14:38063500-38063650	HEEpiC	esophagus:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
21	CTCF	chr14:38063448-38063650	Kidney_OC	kidney:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
22	CTCF	chr14:38063480-38063630	HMF	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
23	CTCF	chr14:38063420-38063570	A549	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
24	CTCF	chr14:38063276-38063746	A549	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
25	CTCF	chr14:38063500-38063650	MCF-7	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
26	CTCF	chr14:38063474-38063601	GM12891	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
27	CTCF	chr14:38063416-38063710	MCF-7	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
28	CTCF	chr14:38063428-38063692	A549	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
29	CTCF	chr14:38063421-38063679	Hela-S3	cervix:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
30	CTCF	chr14:38063520-38063670	GM12874	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
31	CTCF	chr14:38063500-38063650	AG04450	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
32	CTCF	chr14:38063437-38063673	Fibrobl	skin:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
33	CTCF	chr14:38063520-38063670	HCFaa	heart:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
34	CTCF	chr14:38063500-38063650	HFF-Myc	foreskin:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
35	CTCF	chr14:38063439-38063652	MCF-7	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
36	CTCF	chr14:38063376-38063654	T-47D	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
37	CTCF	chr14:38063379-38063715	A549	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
38	CTCF	chr14:38063431-38063659	SK-N-SH_RA	brain:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
39	CTCF	chr14:38063500-38063650	HepG2	liver:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
40	CTCF	chr14:38063400-38063550	HCM	heart:	n/a	n/a
41	CTCF	chr14:38063480-38063630	HUVEC	blood vessel:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
42	CTCF	chr14:38063460-38063610	GM12865	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
43	CTCF	chr14:38063440-38063590	GM12871	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
44	CTCF	chr14:38063440-38063590	GM12864	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
45	CTCF	chr14:38063500-38063650	GM12871	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
46	CTCF	chr14:38063480-38063630	HMEC	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
47	CTCF	chr14:38063520-38063670	AG04450	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
48	CTCF	chr14:38063439-38063714	Pancreas_OC	pancreas:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
49	CTCF	chr14:38063487-38063688	Spleen_OC	spleen:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
50	CTCF	chr14:38063500-38063650	RPTEC	kidney:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568

No.	Distal block	Cell Line	Cell type
1	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
2	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
3	chr14:38062598..38064269-chr16:87798800..87800930,2	MCF-7	breast:
4	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
5	chr14:38035549..38036658-chr14:38063068..38063787,3	MCF-7	breast:
6	chr14:38061626..38064274-chr8:144362134..144365132,2	MCF-7	breast:
7	chr12:52638172..52640523-chr14:38063240..38065213,2	MCF-7	breast:
8	chr14:38063458..38065003-chr17:45607681..45609442,2	MCF-7	breast:
9	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:
10	chr12:133136306..133139084-chr14:38062974..38065575,2	MCF-7	breast:
11	chr14:37641087..37642667-chr14:38063502..38066629,3	MCF-7	breast:
12	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
13	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:
14	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
15	chr14:38061973..38064113-chr8:48650908..48653008,2	MCF-7	breast:
16	chr12:7053819..7056575-chr14:38063408..38066179,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A21-3	chr14:38063080-38063818	NONHSAT036465

Variant related genes	Relation type
TTC6	TF binding region
FOXA1	TF binding region
ENSG00000221869	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000183032	chromatin interactions
ENSG00000259087	chromatin interactions
ENSG00000253716	chromatin interactions
ENSG00000111679	chromatin interactions
ENSG00000112787	chromatin interactions
ENSG00000141279	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000135480	chromatin interactions
ENSG00000104731	chromatin interactions
ENSG00000207046	chromatin interactions
ENSG00000151338	chromatin interactions
ENSG00000258708	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5807961	chr14:38063536-38063537	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16774939	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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38056200-38065600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
2	chr14:38056400-38066000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
3	chr14:38057000-38065400	Active TSS	Liver	Liver
4	chr14:38059800-38065600	Active TSS	A549	lung
5	chr14:38060400-38064000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr14:38060600-38064000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
7	chr14:38061800-38064600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:38062200-38063600	Weak transcription	Pancreas	Pancrea
9	chr14:38062400-38063600	Weak transcription	Lung	lung
10	chr14:38062400-38064000	Active TSS	Colonic Mucosa	Colon
11	chr14:38062400-38064400	Active TSS	Small Intestine	intestine
12	chr14:38062400-38065200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr14:38062800-38063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:38062800-38063600	Bivalent/Poised TSS	Esophagus	oesophagus
15	chr14:38062800-38065600	Bivalent/Poised TSS	HepG2	liver
16	chr14:38062800-38065600	Active TSS	K562	blood
17	chr14:38063000-38065600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr14:38063200-38063600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:38063200-38063600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
20	chr14:38063200-38063800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr14:38063200-38063800	Active TSS	Stomach Mucosa	stomach
22	chr14:38063200-38065200	Active TSS	Duodenum Mucosa	Duodenum
23	chr14:38063200-38065400	Active TSS	Hela-S3	cervix
24	chr14:38063200-38065600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
26	chr14:38063400-38063600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr14:38063400-38063600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:38063400-38063600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr14:38063400-38063600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
31	chr14:38063400-38063600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:38063400-38063600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr14:38063400-38063600	Bivalent/Poised TSS	Aorta	Aorta
36	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
37	chr14:38063400-38063600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:38063400-38063600	Bivalent Enhancer	Brain Substantia Nigra	brain
39	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
40	chr14:38063400-38063600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr14:38063400-38063600	Bivalent Enhancer	Fetal Brain Female	brain
42	chr14:38063400-38063600	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr14:38063400-38063600	Bivalent Enhancer	Placenta	Placenta
44	chr14:38063400-38063600	Bivalent Enhancer	Psoas Muscle	Psoas
45	chr14:38063400-38063600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr14:38063400-38063600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
47	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr14:38063400-38063600	Flanking Active TSS	HMEC	breast
49	chr14:38063400-38063600	Bivalent/Poised TSS	HSMM	muscle
50	chr14:38063400-38063600	Bivalent/Poised TSS	NH-A	brain

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