Variant report

Variant	nsv964843
Chromosome Location	chr5:36885131-36887084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:36887049-36887187	K562	blood:	n/a	n/a
2	CCNT2	chr5:36885423-36885532	K562	blood:	n/a	n/a
3	CTCF	chr5:36886382-36886489	NHEK	skin:	n/a	n/a
4	CTCF	chr5:36886280-36886430	GM12871	blood:	n/a	n/a
5	CTCF	chr5:36886391-36886477	GM19240	blood:	n/a	n/a
6	CTCF	chr5:36886358-36886455	GM13976	blood:	n/a	n/a
7	CTCF	chr5:36886260-36886410	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr5:36886324-36886466	GM19239	blood:	n/a	n/a
9	CTCF	chr5:36886342-36886451	Fibrobl	skin:	n/a	n/a
10	CTCF	chr5:36886326-36886512	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:36886334-36886500	GM12891	blood:	n/a	n/a
12	CTCF	chr5:36886331-36886511	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:36886373-36886506	Gliobla	brain:	n/a	n/a
14	CTCF	chr5:36886310-36886538	MCF-7	breast:	n/a	n/a
15	CTCF	chr5:36886358-36886502	MCF-7	breast:	n/a	n/a
16	CTCF	chr5:36886260-36886410	HEK293	kidney:	n/a	n/a
17	CTCF	chr5:36886379-36886489	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr5:36886320-36886470	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr5:36886376-36886529	GM19238	blood:	n/a	n/a
20	CTCF	chr5:36886364-36886487	K562	blood:	n/a	n/a
21	CTCF	chr5:36886352-36886519	A549	lung:	n/a	n/a
22	CTCF	chr5:36886356-36886530	MCF-7	breast:	n/a	n/a
23	CTCF	chr5:36886364-36886482	GM12892	blood:	n/a	n/a
24	CTCF	chr5:36886414-36886463	Hela-S3	cervix:	n/a	n/a
25	FAM48A	chr5:36886942-36887105	GM12878	blood:	n/a	n/a
26	MYC	chr5:36886338-36886434	MCF-7	breast:	n/a	n/a
27	MYC	chr5:36886271-36886454	MCF-7	breast:	n/a	n/a
28	MYC	chr5:36885318-36885377	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:36885337-36885537	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:36886066-36886380	K562	blood:	n/a	n/a
31	POLR2A	chr5:36886182-36886481	MCF-7	breast:	n/a	n/a
32	POLR2A	chr5:36886340-36886482	MCF-7	breast:	n/a	n/a
33	POLR2A	chr5:36885306-36885583	MCF-7	breast:	n/a	n/a
34	POLR2A	chr5:36886155-36886218	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:36885713-36885839	ProgFib	skin:	n/a	n/a
36	POLR2A	chr5:36886297-36886306	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:36886230-36886411	ProgFib	skin:	n/a	n/a
38	POLR2A	chr5:36885755-36885914	Gliobla	brain:	n/a	n/a
39	POLR2A	chr5:36885966-36886049	Gliobla	brain:	n/a	n/a
40	POLR2A	chr5:36885300-36885343	Gliobla	brain:	n/a	n/a
41	POLR2A	chr5:36885232-36885301	MCF-7	breast:	n/a	n/a
42	POLR2A	chr5:36886129-36886176	MCF-7	breast:	n/a	n/a
43	POLR2A	chr5:36885148-36885324	ProgFib	skin:	n/a	n/a
44	POLR2A	chr5:36886197-36886211	MCF-7	breast:	n/a	n/a
45	POLR2A	chr5:36886093-36886117	MCF-7	breast:	n/a	n/a
46	POLR2A	chr5:36886036-36886335	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr5:36885334-36885421	MCF-7	breast:	n/a	n/a
48	STAT3	chr5:36886788-36886992	MCF10A-Er-Src	breast:	n/a	n/a
49	WRNIP1	chr5:36885262-36885303	GM12878	blood:	n/a	n/a
50	WRNIP1	chr5:36885894-36886178	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36876398..36879013-chr5:36886021..36888865,3	MCF-7	breast:
2	chr5:36728405..36730840-chr5:36886021..36888598,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRT18P31	TF binding region
ENSG00000164190	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181943127	chr5:36885154-36885155	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370811457	chr5:36885172-36885173	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs58959442	chr5:36885181-36885182	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561202950	chr5:36885202-36885203	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186556599	chr5:36885252-36885253	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528385347	chr5:36885288-36885289	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs546970627	chr5:36885311-36885312	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565326568	chr5:36885319-36885320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572540322	chr5:36885345-36885346	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532644801	chr5:36885382-36885383	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551131838	chr5:36885410-36885411	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569332760	chr5:36885422-36885423	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56289850	chr5:36885438-36885439	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536829683	chr5:36885440-36885441	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548504635	chr5:36885448-36885449	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567104629	chr5:36885470-36885471	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534265006	chr5:36885472-36885473	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142373287	chr5:36885473-36885474	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577251999	chr5:36885569-36885570	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538324491	chr5:36885584-36885585	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556989955	chr5:36885586-36885587	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs291113	chr5:36885607-36885608	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190622491	chr5:36885662-36885663	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535272794	chr5:36885668-36885669	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573173229	chr5:36885682-36885683	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540574808	chr5:36885701-36885702	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181688769	chr5:36885760-36885761	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532580751	chr5:36885761-36885762	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550723931	chr5:36885771-36885772	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562956967	chr5:36885777-36885778	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530137833	chr5:36885805-36885806	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548758209	chr5:36885844-36885845	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116420801	chr5:36885845-36885846	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376946271	chr5:36885869-36885870	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146153773	chr5:36885882-36885883	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570825891	chr5:36885908-36885909	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185638299	chr5:36885913-36885914	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148280985	chr5:36885920-36885921	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551754576	chr5:36885923-36885924	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111683662	chr5:36885942-36885943	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575258554	chr5:36885952-36885953	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536002372	chr5:36885955-36885956	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368165787	chr5:36885956-36885957	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573100747	chr5:36885979-36885980	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540515432	chr5:36886016-36886017	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565140742	chr5:36886062-36886063	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543723866	chr5:36886150-36886151	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577228299	chr5:36886151-36886152	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544556528	chr5:36886153-36886154	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562785637	chr5:36886154-36886155	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36877800-36885400	Weak transcription	Spleen	Spleen
2	chr5:36878800-36885400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:36879000-36885600	Weak transcription	Placenta	Placenta
4	chr5:36879200-36885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:36879200-36885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:36879200-36885200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:36879200-36885200	Weak transcription	Gastric	stomach
8	chr5:36879200-36885200	Weak transcription	Pancreas	Pancrea
9	chr5:36879200-36885400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:36879200-36885400	Weak transcription	Esophagus	oesophagus
11	chr5:36879200-36885400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:36879200-36885400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:36879200-36885600	Weak transcription	Colonic Mucosa	Colon
14	chr5:36879200-36885800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:36879200-36885800	Weak transcription	Small Intestine	intestine
16	chr5:36879200-36889400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:36879400-36885200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:36879400-36885200	Weak transcription	Fetal Thymus	thymus
19	chr5:36879400-36885400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:36879400-36885400	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:36879400-36885400	Weak transcription	Fetal Stomach	stomach
22	chr5:36879400-36885400	Weak transcription	Right Ventricle	heart
23	chr5:36879400-36885600	Weak transcription	HSMM	muscle
24	chr5:36879400-36885800	Weak transcription	Psoas Muscle	Psoas
25	chr5:36879400-36887400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:36879600-36889400	Weak transcription	HSMMtube	muscle
27	chr5:36879800-36885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:36879800-36885400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:36879800-36885400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:36879800-36885400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:36879800-36885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:36879800-36885400	Weak transcription	Thymus	Thymus
33	chr5:36879800-36891400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:36880000-36885200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:36880000-36889000	Weak transcription	Brain Anterior Caudate	brain
36	chr5:36880000-36891200	Weak transcription	Fetal Brain Female	brain
37	chr5:36880000-36897400	Weak transcription	NHLF	lung
38	chr5:36880200-36885600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:36880400-36897800	Weak transcription	HUVEC	blood vessel
40	chr5:36881000-36899800	Weak transcription	Brain Substantia Nigra	brain
41	chr5:36881000-36900600	Weak transcription	Osteobl	bone
42	chr5:36881200-36885200	Weak transcription	Ovary	ovary
43	chr5:36881200-36885400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:36881200-36885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:36881200-36885400	Weak transcription	Brain Angular Gyrus	brain
46	chr5:36881200-36885600	Weak transcription	Fetal Lung	lung
47	chr5:36881200-36885600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:36881200-36887400	Weak transcription	HMEC	breast
49	chr5:36881200-36890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:36881200-36892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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