Variant report

Variant	esv3364661
Chromosome Location	chr14:71003492-71010843
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	BATF	chr14:71006186-71006343	GM12878	blood:	n/a	n/a
2	BATF	chr14:71006169-71006342	GM12878	blood:	n/a	n/a
3	CEBPB	chr14:71006561-71006857	HepG2	liver:	n/a	chr14:71006671-71006682
4	CTCF	chr14:71005748-71005843	ProgFib	skin:	n/a	n/a
5	CTCF	chr14:71004120-71004270	GM12866	blood:	n/a	n/a
6	CTCF	chr14:71003437-71003550	LNCaP	prostate:	n/a	n/a
7	CUX1	chr14:71007971-71007988	K562	blood:	n/a	n/a
8	E2F4	chr14:71010532-71010617	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA2	chr14:71003336-71003632	K562	blood:	n/a	n/a
10	GATA3	chr14:71006094-71006341	T-47D	breast:	n/a	n/a
11	MAZ	chr14:71008577-71008695	HepG2	liver:	n/a	n/a
12	NFIC	chr14:71006139-71006511	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:71008939-71008982	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr14:71006726-71006739	MCF-7	breast:	n/a	n/a
15	POLR2A	chr14:71003821-71003859	MCF-7	breast:	n/a	n/a
16	RUNX3	chr14:71006085-71006344	GM12878	blood:	n/a	n/a
17	SETDB1	chr14:71003598-71004059	U2OS	brain:	n/a	n/a
18	SPI1	chr14:71006112-71006336	GM12878	blood:	n/a	n/a
19	SPI1	chr14:71006148-71006357	GM12891	blood:	n/a	n/a
20	SPI1	chr14:71005958-71006716	GM12878	blood:	n/a	n/a
21	SPI1	chr14:71006215-71006319	GM12878	blood:	n/a	n/a
22	SPI1	chr14:71006155-71006340	GM12891	blood:	n/a	n/a
23	ZNF143	chr14:71003749-71003980	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF384	chr14:71003619-71003774	K562	blood:	n/a	n/a

Variant related genes	Relation type
ADAM20	TF binding region

Extended variants
information (count: 293 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:293 , 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	rs60848570	chr14:71003501-71003502	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565578964	chr14:71003575-71003576	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532126114	chr14:71003576-71003577	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs142746815	chr14:71003610-71003611	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562582422	chr14:71003614-71003615	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529785492	chr14:71003650-71003651	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577264085	chr14:71003662-71003663	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201978784	chr14:71003678-71003679	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372360087	chr14:71003704-71003705	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs192076932	chr14:71003804-71003805	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs117165365	chr14:71003861-71003862	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374002386	chr14:71003877-71003878	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs573455751	chr14:71003931-71003932	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs527488499	chr14:71003933-71003934	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs61979146	chr14:71003936-71003937	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs552014743	chr14:71003946-71003947	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs35007914	chr14:71003952-71003953	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs61008071	chr14:71004027-71004028	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539018143	chr14:71004076-71004077	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541150984	chr14:71004082-71004083	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117493834	chr14:71004115-71004116	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147413873	chr14:71004117-71004118	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117437188	chr14:71004135-71004136	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs184177734	chr14:71004136-71004137	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs59125209	chr14:71004220-71004221	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540838531	chr14:71004230-71004231	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188975137	chr14:71004239-71004240	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs577495464	chr14:71004258-71004259	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544181129	chr14:71004271-71004272	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72719734	chr14:71004288-71004289	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192386425	chr14:71004302-71004303	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139635401	chr14:71004303-71004304	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75933923	chr14:71004342-71004343	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72719735	chr14:71004364-71004365	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12587714	chr14:71004376-71004377	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551998479	chr14:71004377-71004378	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143746057	chr14:71004390-71004391	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531539982	chr14:71004401-71004402	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147208481	chr14:71004461-71004462	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373822348	chr14:71004512-71004513	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561485715	chr14:71004623-71004624	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569128489	chr14:71004632-71004633	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528660620	chr14:71004643-71004644	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554777506	chr14:71004675-71004676	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536649554	chr14:71004719-71004720	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376021660	chr14:71004753-71004754	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78159152	chr14:71004775-71004776	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565794642	chr14:71004827-71004828	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567018038	chr14:71004854-71004855	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184803256	chr14:71004871-71004872	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Epilepsy	20502679	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70982000-71003600	Weak transcription	HSMM	muscle
2	chr14:70985800-71003800	Weak transcription	HSMMtube	muscle
3	chr14:70987800-71005800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:70988000-71028200	Weak transcription	Esophagus	oesophagus
5	chr14:70988000-71029800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:70988400-71003800	Weak transcription	Primary B cells from cord blood	blood
7	chr14:70988800-71028800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:70990400-71029600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:70991200-71006400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:70991400-71003800	Weak transcription	Brain Substantia Nigra	brain
11	chr14:70991400-71028200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:70991600-71003800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70991600-71003800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:70991600-71003800	Weak transcription	Aorta	Aorta
15	chr14:70991600-71003800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:70991600-71003800	Weak transcription	Ovary	ovary
17	chr14:70991600-71003800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:70991600-71003800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:70991600-71003800	Weak transcription	Spleen	Spleen
20	chr14:70991600-71004000	Weak transcription	Right Ventricle	heart
21	chr14:70991600-71004000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:70991600-71004200	Weak transcription	Pancreas	Pancrea
23	chr14:70991600-71014600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:70991600-71022400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:70991600-71028200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:70991600-71028800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:70991800-71003800	Weak transcription	Left Ventricle	heart
28	chr14:70991800-71011800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:70992200-71022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:70999800-71003800	Weak transcription	Adipose Nuclei	Adipose
31	chr14:70999800-71022400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:70999800-71024600	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:70999800-71029200	Weak transcription	Brain Anterior Caudate	brain
34	chr14:70999800-71030200	Weak transcription	Brain Angular Gyrus	brain
35	chr14:71000000-71028800	Weak transcription	Primary T cells from cord blood	blood
36	chr14:71000400-71003600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:71000400-71003800	Weak transcription	Liver	Liver
38	chr14:71002000-71003800	Weak transcription	Lung	lung
39	chr14:71003000-71003800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:71003200-71005000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
41	chr14:71003600-71004600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr14:71003800-71004000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
43	chr14:71003800-71004000	ZNF genes & repeats	HSMMtube	muscle
44	chr14:71003800-71004200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:71003800-71004200	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr14:71003800-71004200	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr14:71003800-71004200	ZNF genes & repeats	Spleen	Spleen
48	chr14:71003800-71004400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:71003800-71004400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr14:71003800-71004400	ZNF genes & repeats	Aorta	Aorta

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