Variant report

Variant	nsv527761
Chromosome Location	chr5:106725691-106728586
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	BACH1	chr5:106727512-106727901	H1-hESC	embryonic stem cell:	n/a	chr5:106727678-106727692
2	BHLHE40	chr5:106727587-106727760	GM12878	blood:	n/a	n/a
3	CHD2	chr5:106725679-106725719	GM12878	blood:	n/a	n/a
4	CTCF	chr5:106728220-106728370	GM12867	blood:	n/a	n/a
5	GATA2	chr5:106724822-106725874	HUVEC	blood vessel:	n/a	chr5:106724840-106724848
6	GATA3	chr5:106726014-106726054	SH-SY5Y	brain:	n/a	n/a
7	JUND	chr5:106727529-106727729	H1-hESC	embryonic stem cell:	n/a	chr5:106727679-106727691 chr5:106727681-106727688 chr5:106727681-106727689 chr5:106727681-106727689 chr5:106727680-106727690
8	MAFK	chr5:106727512-106727865	H1-hESC	embryonic stem cell:	n/a	chr5:106727684-106727695 chr5:106727682-106727691 chr5:106727681-106727691 chr5:106727680-106727695
9	MAFK	chr5:106727551-106727829	HepG2	liver:	n/a	chr5:106727684-106727695 chr5:106727682-106727691 chr5:106727681-106727691 chr5:106727680-106727695
10	MAFK	chr5:106727568-106727822	HepG2	liver:	n/a	chr5:106727684-106727695 chr5:106727682-106727691 chr5:106727681-106727691 chr5:106727680-106727695
11	MAX	chr5:106727157-106727192	A549	lung:	n/a	n/a
12	MAX	chr5:106723783-106725857	A549	lung:	n/a	chr5:106725389-106725398
13	NFIC	chr5:106723208-106725753	GM12878	blood:	n/a	n/a
14	NR3C1	chr5:106725525-106725797	A549	lung:	n/a	n/a
15	NR3C1	chr5:106725561-106725814	A549	lung:	n/a	n/a
16	POLR2A	chr5:106728569-106728618	ProgFib	skin:	n/a	n/a
17	RCOR1	chr5:106725896-106725964	GM12878	blood:	n/a	n/a
18	RELA	chr5:106724728-106725748	GM12878	blood:	n/a	n/a
19	RUNX3	chr5:106727475-106727922	GM12878	blood:	n/a	n/a
20	SPI1	chr5:106725448-106725706	GM12878	blood:	n/a	chr5:106725588-106725597 chr5:106725587-106725600 chr5:106725586-106725599
21	SPI1	chr5:106725397-106725756	HL-60	blood:	n/a	chr5:106725588-106725597 chr5:106725587-106725600 chr5:106725586-106725599
22	TCF12	chr5:106723701-106725983	A549	lung:	n/a	chr5:106724885-106724892
23	WRNIP1	chr5:106728244-106728560	GM12878	blood:	n/a	n/a
24	WRNIP1	chr5:106725662-106725844	GM12878	blood:	n/a	n/a
25	WRNIP1	chr5:106727840-106727889	GM12878	blood:	n/a	n/a
26	ZKSCAN1	chr5:106726714-106726726	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
EFNA5	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs252818	chr5:106725691-106725692	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554718737	chr5:106725706-106725707	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372044355	chr5:106725722-106725723	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376682515	chr5:106725761-106725762	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374622222	chr5:106725802-106725803	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs142482168	chr5:106725859-106725860	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554185095	chr5:106725876-106725877	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs77469970	chr5:106725905-106725906	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs546144287	chr5:106725938-106725939	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs185795978	chr5:106726030-106726031	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs574831409	chr5:106726068-106726069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542074100	chr5:106726082-106726083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151320414	chr5:106726102-106726103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115587319	chr5:106726107-106726108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141786722	chr5:106726165-106726166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527383241	chr5:106726228-106726229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370864847	chr5:106726235-106726236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540655854	chr5:106726237-106726238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575206977	chr5:106726250-106726251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10072838	chr5:106726278-106726279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533273679	chr5:106726316-106726317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191247830	chr5:106726423-106726424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563502019	chr5:106726425-106726426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564455903	chr5:106726446-106726447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72785812	chr5:106726448-106726449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35593484	chr5:106726489-106726490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114457728	chr5:106726498-106726499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145516293	chr5:106726506-106726507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372872340	chr5:106726525-106726526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116492619	chr5:106726558-106726559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558344421	chr5:106726611-106726612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181761211	chr5:106726630-106726631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187153750	chr5:106726657-106726658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147694691	chr5:106726662-106726663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556537073	chr5:106726694-106726695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369822997	chr5:106726696-106726697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535724292	chr5:106726753-106726754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191485676	chr5:106726765-106726766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183396367	chr5:106726787-106726788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142390841	chr5:106726795-106726796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563762638	chr5:106726806-106726807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577519957	chr5:106726820-106726821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200672955	chr5:106726854-106726855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187584611	chr5:106726866-106726867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563480790	chr5:106726872-106726873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529164578	chr5:106726884-106726885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549231993	chr5:106726909-106726910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559554093	chr5:106726914-106726915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527807142	chr5:106726915-106726916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189798680	chr5:106726924-106726925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106720400-106740800	Weak transcription	Aorta	Aorta
2	chr5:106722600-106725800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:106723000-106725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:106723000-106725800	Enhancers	Primary T cells from cord blood	blood
5	chr5:106723200-106725800	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:106723200-106725800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:106723200-106725800	Enhancers	Fetal Thymus	thymus
8	chr5:106723200-106725800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:106723200-106725800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:106723200-106725800	Enhancers	Thymus	Thymus
11	chr5:106723200-106725800	Flanking Active TSS	GM12878-XiMat	blood
12	chr5:106723200-106726000	Enhancers	Dnd41	blood
13	chr5:106723400-106725800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:106723400-106725800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:106723400-106725800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:106723400-106725800	Enhancers	Small Intestine	intestine
17	chr5:106723400-106726000	Enhancers	Stomach Mucosa	stomach
18	chr5:106723600-106725800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:106723600-106725800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:106723600-106726000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:106723600-106726000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:106723600-106726000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:106723600-106726200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:106723600-106728200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:106723600-106732000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:106723800-106725800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr5:106723800-106725800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:106723800-106725800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:106723800-106725800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:106724000-106725800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:106724000-106725800	Enhancers	NHEK	skin
32	chr5:106724000-106725800	Enhancers	NHLF	lung
33	chr5:106724000-106726000	Enhancers	HMEC	breast
34	chr5:106724000-106728200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:106724200-106725800	Enhancers	Fetal Heart	heart
36	chr5:106724200-106725800	Enhancers	HSMM	muscle
37	chr5:106724200-106730200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:106724400-106725800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:106724400-106725800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr5:106724600-106725800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:106724600-106726000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:106724800-106725800	Enhancers	Fetal Muscle Leg	muscle
43	chr5:106724800-106725800	Flanking Active TSS	A549	lung
44	chr5:106724800-106726000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:106724800-106729000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:106725000-106726000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr5:106725000-106726000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:106725000-106726000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr5:106725000-106729800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:106725200-106725800	Enhancers	HSMMtube	muscle

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