Variant report

Variant	nsv597815
Chromosome Location	chr5:35864590-35871684
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	CTCF	chr5:35870200-35870350	GM12873	blood:	n/a	n/a
2	IKZF1	chr5:35869869-35870028	GM12878	blood:	n/a	n/a
3	MAX	chr5:35869891-35870211	GM12878	blood:	n/a	n/a
4	MYC	chr5:35868979-35869083	MCF-7	breast:	n/a	n/a
5	PAX5	chr5:35870056-35870311	GM12878	blood:	n/a	chr5:35870188-35870206
6	PAX5	chr5:35869971-35870315	GM12878	blood:	n/a	chr5:35870188-35870206
7	POLR2A	chr5:35869145-35869154	A549	lung:	n/a	n/a
8	POLR2A	chr5:35868945-35869177	ProgFib	skin:	n/a	n/a
9	POLR2A	chr5:35870919-35870987	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:35870803-35870940	A549	lung:	n/a	n/a
11	POLR2A	chr5:35868968-35869003	A549	lung:	n/a	n/a
12	POLR2A	chr5:35866320-35866652	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:35869030-35869128	A549	lung:	n/a	n/a
14	POLR2A	chr5:35869009-35869016	A549	lung:	n/a	n/a
15	POLR2A	chr5:35871516-35871658	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr5:35869993-35870156	GM12878	blood:	n/a	n/a
17	ZNF384	chr5:35869861-35870073	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
IL7R	TF binding region

Extended variants
information (count: 351 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10044838	chr5:35864590-35864591	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188503630	chr5:35864598-35864599	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193102005	chr5:35864604-35864605	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141050454	chr5:35864630-35864631	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531400181	chr5:35864640-35864641	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185575276	chr5:35864666-35864667	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577459383	chr5:35864667-35864668	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571307319	chr5:35864673-35864674	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374994335	chr5:35864686-35864687	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553680141	chr5:35864688-35864689	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11567721	chr5:35864692-35864693	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536290860	chr5:35864704-35864705	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533835010	chr5:35864710-35864711	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556090078	chr5:35864746-35864747	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552211405	chr5:35864885-35864886	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576035775	chr5:35864920-35864921	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544804111	chr5:35864931-35864932	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367958408	chr5:35864975-35864976	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150206344	chr5:35865006-35865007	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138823560	chr5:35865034-35865035	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565473788	chr5:35865081-35865082	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142961145	chr5:35865084-35865085	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573286965	chr5:35865111-35865112	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529240302	chr5:35865128-35865129	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377080318	chr5:35865142-35865143	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542659951	chr5:35865154-35865155	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369725478	chr5:35865157-35865158	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11567722	chr5:35865160-35865161	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551129122	chr5:35865161-35865162	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11567723	chr5:35865194-35865195	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537962173	chr5:35865210-35865211	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7701111	chr5:35865211-35865212	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544750545	chr5:35865212-35865213	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7720993	chr5:35865229-35865230	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549836827	chr5:35865233-35865234	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569536767	chr5:35865246-35865247	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538559221	chr5:35865265-35865266	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558284137	chr5:35865269-35865270	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578117605	chr5:35865273-35865274	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534446307	chr5:35865274-35865275	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553972369	chr5:35865276-35865277	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573824570	chr5:35865277-35865278	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533612314	chr5:35865285-35865286	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188349598	chr5:35865290-35865291	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191337712	chr5:35865307-35865308	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184335934	chr5:35865325-35865326	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143726921	chr5:35865351-35865352	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544982778	chr5:35865353-35865354	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188636267	chr5:35865399-35865400	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11567724	chr5:35865450-35865451	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35857400-35869200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr5:35857800-35866600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr5:35858200-35864800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:35858800-35864800	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:35858800-35865000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:35858800-35865400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:35858800-35866600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
8	chr5:35859000-35864800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
9	chr5:35859000-35864800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
10	chr5:35859000-35865000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
11	chr5:35860000-35869000	Weak transcription	HMEC	breast
12	chr5:35860000-35876600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:35860400-35872800	Weak transcription	Spleen	Spleen
14	chr5:35860400-35883800	Weak transcription	Small Intestine	intestine
15	chr5:35860600-35864800	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
16	chr5:35860800-35864800	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
17	chr5:35860800-35865000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
18	chr5:35861200-35870400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:35862400-35865200	Weak transcription	NH-A	brain
20	chr5:35862400-35870400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:35862600-35864600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:35862600-35868200	Strong transcription	Fetal Thymus	thymus
23	chr5:35862600-35868600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:35862600-35876200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:35863200-35864800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
26	chr5:35863600-35864800	Strong transcription	Osteobl	bone
27	chr5:35863600-35868800	Weak transcription	Lung	lung
28	chr5:35863800-35864800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:35863800-35864800	Active TSS	Thymus	Thymus
30	chr5:35863800-35868400	Weak transcription	HSMM	muscle
31	chr5:35863800-35868800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:35863800-35869000	Weak transcription	GM12878-XiMat	blood
33	chr5:35863800-35876200	Weak transcription	NHDF-Ad	bronchial
34	chr5:35864000-35864600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:35864200-35867800	Weak transcription	NHLF	lung
36	chr5:35864200-35869600	Weak transcription	Primary B cells from cord blood	blood
37	chr5:35864400-35864600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr5:35864400-35864800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:35864600-35864800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:35864600-35865000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:35864600-35876600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:35864800-35865000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr5:35864800-35865200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr5:35864800-35865600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:35864800-35865600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:35864800-35865600	Weak transcription	Thymus	Thymus
47	chr5:35864800-35865800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:35864800-35866000	Active TSS	Primary T cells from cord blood	blood
49	chr5:35864800-35866000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:35864800-35867200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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