Variant report

Variant	nsv974322
Chromosome Location	chr14:32560175-32563287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:32562120-32562270	HepG2	liver:	n/a	n/a
2	CTCF	chr14:32562304-32562332	GM10248	blood:	n/a	n/a
3	MAFF	chr14:32560098-32560380	HepG2	liver:	n/a	n/a
4	MAFK	chr14:32563030-32563131	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr14:32560139-32560392	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:32562817-32563702	A549	lung:	n/a	n/a
7	POLR2A	chr14:32562551-32562565	K562	blood:	n/a	n/a
8	POLR2A	chr14:32563241-32563788	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:32562334-32562581	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:32562434-32562543	K562	blood:	n/a	n/a
11	POLR2A	chr14:32562086-32562116	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr14:32561111-32562579	A549	lung:	n/a	n/a
13	POLR2A	chr14:32561579-32563821	K562	blood:	n/a	n/a
14	POLR2A	chr14:32561115-32561311	K562	blood:	n/a	n/a
15	POLR2A	chr14:32561595-32563670	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:32560002-32560866	K562	blood:	n/a	n/a
17	POLR2A	chr14:32562080-32562245	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:32559825-32560466	A549	lung:	n/a	n/a
19	POLR2A	chr14:32561092-32561329	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:32561535-32561621	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr14:32560513-32560718	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:32554925..32557855-chr14:32558604..32561592,5	K562	blood:
2	chr14:32555927..32560391-chr14:32562569..32565184,4	K562	blood:
3	chr14:32555927..32560391-chr14:32562569..32566454,5	K562	blood:

No data

Variant related genes	Relation type
ARHGAP5	TF binding region
ENSG00000100852	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377565912	chr14:32560217-32560218	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370391316	chr14:32560229-32560230	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200755411	chr14:32560245-32560246	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367805928	chr14:32560263-32560264	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371747331	chr14:32560279-32560280	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374638293	chr14:32560334-32560335	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs190485053	chr14:32560355-32560356	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145904404	chr14:32560356-32560357	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370059505	chr14:32560358-32560359	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200498117	chr14:32560369-32560370	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375076650	chr14:32560384-32560385	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577489184	chr14:32560394-32560395	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541711088	chr14:32560419-32560420	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs369503160	chr14:32560429-32560430	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs144274970	chr14:32560487-32560488	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs369093762	chr14:32560516-32560517	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs530270120	chr14:32560680-32560681	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs367996747	chr14:32560715-32560716	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548346567	chr14:32560759-32560760	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs144586464	chr14:32560760-32560761	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs371461440	chr14:32560774-32560775	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563222261	chr14:32560839-32560840	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs148782993	chr14:32560901-32560902	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551907704	chr14:32560947-32560948	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570395739	chr14:32560955-32560956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142697641	chr14:32560979-32560980	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534615431	chr14:32561014-32561015	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372981423	chr14:32561049-32561050	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571379794	chr14:32561053-32561054	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548631148	chr14:32561109-32561110	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs145993763	chr14:32561126-32561127	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs61747596	chr14:32561129-32561130	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567962322	chr14:32561134-32561135	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs56259828	chr14:32561185-32561186	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs535259985	chr14:32561191-32561192	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs555078601	chr14:32561201-32561202	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs143684972	chr14:32561237-32561238	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs151276606	chr14:32561240-32561241	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200111638	chr14:32561296-32561297	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs537520996	chr14:32561302-32561303	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs201986816	chr14:32561313-32561314	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200628183	chr14:32561316-32561317	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs78337553	chr14:32561340-32561341	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201351112	chr14:32561437-32561438	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs139228559	chr14:32561520-32561521	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs149988341	chr14:32561551-32561552	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs145387405	chr14:32561572-32561573	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532354884	chr14:32561574-32561575	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142620412	chr14:32561595-32561596	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199609559	chr14:32561618-32561619	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Esophageal cancer	20955586	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
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32547600-32571400	Weak transcription	Spleen	Spleen
2	chr14:32548000-32586200	Weak transcription	Lung	lung
3	chr14:32548000-32597400	Weak transcription	Esophagus	oesophagus
4	chr14:32548400-32560800	Weak transcription	Fetal Thymus	thymus
5	chr14:32548400-32569600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:32548400-32571200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:32548600-32562000	Weak transcription	HUVEC	blood vessel
8	chr14:32548600-32564600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:32548600-32584000	Weak transcription	Fetal Stomach	stomach
10	chr14:32548800-32562000	Weak transcription	Fetal Brain Female	brain
11	chr14:32548800-32570600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:32548800-32571600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:32548800-32572800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:32549000-32574000	Weak transcription	Aorta	Aorta
15	chr14:32549200-32560600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:32549200-32570800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:32549200-32571600	Weak transcription	K562	blood
18	chr14:32550200-32560200	Weak transcription	NHDF-Ad	bronchial
19	chr14:32550200-32563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:32551000-32574000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:32552000-32573600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:32552000-32596800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:32552200-32560800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:32552200-32561400	Weak transcription	Brain Germinal Matrix	brain
25	chr14:32552200-32562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:32553200-32567600	Weak transcription	Right Ventricle	heart
27	chr14:32554000-32560200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:32554200-32562000	Weak transcription	Left Ventricle	heart
29	chr14:32554600-32597200	Weak transcription	Gastric	stomach
30	chr14:32555000-32579600	Weak transcription	NHLF	lung
31	chr14:32555600-32560400	Weak transcription	Fetal Brain Male	brain
32	chr14:32555600-32564600	Weak transcription	Fetal Intestine Small	intestine
33	chr14:32555600-32570800	Weak transcription	GM12878-XiMat	blood
34	chr14:32555600-32571400	Weak transcription	Small Intestine	intestine
35	chr14:32555600-32573600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:32555800-32570400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:32556400-32561200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:32557200-32561600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:32557200-32564600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:32557200-32570200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:32557400-32561000	Weak transcription	Brain Anterior Caudate	brain
42	chr14:32557400-32561400	Weak transcription	Hela-S3	cervix
43	chr14:32557400-32562400	Weak transcription	Fetal Heart	heart
44	chr14:32557400-32573400	Weak transcription	Stomach Mucosa	stomach
45	chr14:32557600-32561400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:32557600-32563400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr14:32557800-32571400	Weak transcription	Thymus	Thymus
48	chr14:32557800-32571600	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:32558600-32560600	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:32558800-32561200	Enhancers	Brain Hippocampus Middle	brain

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