Variant report

Variant	esv3429977
Chromosome Location	chr14:31435166-31441360
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	chr14:31439439-31439448	K562	blood:	n/a	n/a
2	ARID3A	chr14:31436570-31436799	HepG2	liver:	n/a	n/a
3	ATF1	chr14:31435799-31435996	K562	blood:	n/a	n/a
4	BHLHE40	chr14:31435723-31435999	K562	blood:	n/a	n/a
5	CHD2	chr14:31439032-31439341	GM12878	blood:	n/a	n/a
6	CTCF	chr14:31435653-31435752	Gliobla	brain:	n/a	n/a
7	CTCF	chr14:31435960-31436110	HepG2	liver:	n/a	n/a
8	CUX1	chr14:31437167-31437176	K562	blood:	n/a	n/a
9	E2F4	chr14:31435142-31435348	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr14:31439010-31439487	GM12878	blood:	n/a	chr14:31439220-31439231
11	EBF1	chr14:31439000-31439438	GM12878	blood:	n/a	chr14:31439220-31439231
12	EBF1	chr14:31438999-31439594	GM12878	blood:	n/a	chr14:31439220-31439231
13	FOS	chr14:31435663-31435984	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:31435022-31435388	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr14:31435022-31436004	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr14:31435634-31436002	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr14:31435662-31435996	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr14:31435025-31435355	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr14:31435047-31435358	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr14:31436458-31436858	HepG2	liver:	n/a	n/a
21	FOXA1	chr14:31436452-31436893	HepG2	liver:	n/a	n/a
22	FOXA1	chr14:31436456-31436936	HepG2	liver:	n/a	n/a
23	FOXA1	chr14:31436410-31436965	HepG2	liver:	n/a	n/a
24	FOXA2	chr14:31436344-31436925	A549	lung:	n/a	n/a
25	FOXA2	chr14:31435533-31437063	HepG2	liver:	n/a	n/a
26	FOXA2	chr14:31436333-31436908	A549	lung:	n/a	n/a
27	FOXA2	chr14:31436499-31436914	HepG2	liver:	n/a	n/a
28	GATA3	chr14:31441272-31441673	MCF-7	breast:	n/a	n/a
29	JUND	chr14:31435725-31435928	K562	blood:	n/a	n/a
30	KAP1	chr14:31435415-31435848	HEK293	kidney:	n/a	n/a
31	MYC	chr14:31435737-31435982	MCF10A-Er-Src	breast:	n/a	n/a
32	NFYB	chr14:31435244-31435444	K562	blood:	n/a	n/a
33	POLR2A	chr14:31435506-31436256	HCT-116	colon:	n/a	n/a
34	POLR2A	chr14:31435014-31435495	HCT-116	colon:	n/a	n/a
35	POLR2A	chr14:31435329-31435438	ProgFib	skin:	n/a	n/a
36	POLR2A	chr14:31435124-31435417	HCT-116	colon:	n/a	n/a
37	POLR2A	chr14:31438967-31439129	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:31435830-31435977	ProgFib	skin:	n/a	n/a
39	POLR2A	chr14:31435551-31436164	HCT-116	colon:	n/a	n/a
40	RCOR1	chr14:31435716-31435902	K562	blood:	n/a	n/a
41	RUNX3	chr14:31439003-31439360	GM12878	blood:	n/a	n/a
42	RUNX3	chr14:31438962-31439456	GM12878	blood:	n/a	n/a
43	RXRA	chr14:31436520-31436902	HepG2	liver:	n/a	n/a
44	SETDB1	chr14:31435248-31436013	U2OS	brain:	n/a	n/a
45	SPI1	chr14:31436985-31437172	K562	blood:	n/a	n/a
46	STAT3	chr14:31435143-31435344	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr14:31435135-31435342	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr14:31435791-31435981	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr14:31435682-31435882	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr14:31435142-31435344	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31428811..31431049-chr14:31434848..31436931,2	MCF-7	breast:

Variant related genes	Relation type
STRN3	TF binding region

Extended variants
information (count: 251 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145769505	chr14:31435167-31435168	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs116851813	chr14:31435214-31435215	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566376282	chr14:31435241-31435242	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs533881334	chr14:31435310-31435311	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572640665	chr14:31435325-31435326	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs555080006	chr14:31435329-31435330	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs567030464	chr14:31435345-31435346	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537600526	chr14:31435353-31435354	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555960904	chr14:31435360-31435361	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537347018	chr14:31435406-31435407	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs112818651	chr14:31435409-31435410	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs117240744	chr14:31435416-31435417	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558110525	chr14:31435426-31435427	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs138706733	chr14:31435461-31435462	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs34095488	chr14:31435463-31435464	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs186297066	chr14:31435487-31435488	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs562119631	chr14:31435497-31435498	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs142760040	chr14:31435499-31435500	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544784605	chr14:31435547-31435548	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138306359	chr14:31435568-31435569	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs376188909	chr14:31435570-31435571	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147400853	chr14:31435582-31435583	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs139693753	chr14:31435598-31435599	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149536093	chr14:31435610-31435611	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200823399	chr14:31435665-31435666	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs144187573	chr14:31435736-31435737	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs527249172	chr14:31435737-31435738	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548570253	chr14:31435745-31435746	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577622247	chr14:31435751-31435752	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190401900	chr14:31435814-31435815	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549548652	chr14:31435839-31435840	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571381505	chr14:31435851-31435852	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs538915737	chr14:31435895-31435896	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs553744378	chr14:31435909-31435910	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs545523695	chr14:31435953-31435954	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs572310035	chr14:31435978-31435979	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs4981811	chr14:31436007-31436008	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553873655	chr14:31436008-31436009	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs370074661	chr14:31436046-31436047	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs555816078	chr14:31436047-31436048	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181713532	chr14:31436114-31436115	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116955260	chr14:31436123-31436124	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs113734472	chr14:31436129-31436130	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs142249228	chr14:31436143-31436144	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs111455023	chr14:31436146-31436147	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs578137493	chr14:31436160-31436161	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs186778186	chr14:31436180-31436181	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560575679	chr14:31436190-31436191	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112187569	chr14:31436218-31436219	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs191992839	chr14:31436219-31436220	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
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
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
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31360200-31435600	Weak transcription	Gastric	stomach
3	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
4	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
5	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
6	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
8	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
9	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31416000-31435200	Weak transcription	Spleen	Spleen
17	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:31416000-31435600	Weak transcription	NHLF	lung
20	chr14:31416200-31435600	Weak transcription	Thymus	Thymus
21	chr14:31416600-31435600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:31416600-31435800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:31417000-31435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:31417000-31435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:31420000-31435400	Weak transcription	Fetal Thymus	thymus
26	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:31420800-31435400	Weak transcription	NHDF-Ad	bronchial
28	chr14:31423200-31435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:31423200-31435200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:31423400-31435400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:31423400-31435400	Weak transcription	NHEK	skin
32	chr14:31423400-31435600	Weak transcription	Hela-S3	cervix
33	chr14:31424000-31435200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:31424200-31435200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:31424400-31435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:31424400-31435200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:31424400-31435200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:31424400-31435600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:31424400-31435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:31424800-31435200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr14:31425200-31435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:31425400-31435200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:31425400-31435600	Weak transcription	Osteobl	bone
44	chr14:31425600-31435200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:31425600-31435200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:31425600-31435200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:31425600-31435400	Weak transcription	HSMM	muscle
48	chr14:31425600-31435400	Weak transcription	NH-A	brain
49	chr14:31425600-31435600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:31425600-31437000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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