Variant report

Variant	esv2753078
Chromosome Location	chr13:76114699-76117699
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	ATF1	chr13:76115164-76115846	K562	blood:	n/a	n/a
2	CEBPB	chr13:76117488-76117562	A549	lung:	n/a	n/a
3	CTCF	chr13:76116200-76116350	AG04449	skin:	n/a	n/a
4	CTCF	chr13:76115320-76115470	AG04449	skin:	n/a	n/a
5	CTCF	chr13:76115400-76115550	HEEpiC	esophagus:	n/a	n/a
6	EP300	chr13:76114701-76114707	K562	blood:	n/a	n/a
7	JUN	chr13:76115603-76115609	HepG2	liver:	n/a	n/a
8	JUN	chr13:76115481-76115749	K562	blood:	n/a	chr13:76115613-76115621 chr13:76115612-76115621 chr13:76115613-76115620
9	JUN	chr13:76115328-76115922	K562	blood:	n/a	chr13:76115613-76115621 chr13:76115612-76115621 chr13:76115613-76115620
10	JUND	chr13:76115408-76115791	K562	blood:	n/a	chr13:76115613-76115621 chr13:76115611-76115622 chr13:76115612-76115621 chr13:76115613-76115620
11	JUND	chr13:76115549-76115695	HepG2	liver:	n/a	chr13:76115613-76115621 chr13:76115611-76115622 chr13:76115612-76115621 chr13:76115613-76115620
12	MAFK	chr13:76115589-76115771	K562	blood:	n/a	n/a
13	MAFK	chr13:76115194-76115392	HepG2	liver:	n/a	n/a
14	MAZ	chr13:76117516-76117519	HepG2	liver:	n/a	n/a
15	MEF2A	chr13:76115383-76115882	K562	blood:	n/a	chr13:76115716-76115737 chr13:76115718-76115732 chr13:76115564-76115580
16	RCOR1	chr13:76115472-76115776	K562	blood:	n/a	n/a
17	SPI1	chr13:76115326-76115895	HL-60	blood:	n/a	chr13:76115635-76115642 chr13:76115634-76115643 chr13:76115631-76115644
18	SPI1	chr13:76115415-76115829	GM12891	blood:	n/a	chr13:76115635-76115642 chr13:76115634-76115643 chr13:76115631-76115644
19	SPI1	chr13:76115438-76115803	GM12891	blood:	n/a	chr13:76115635-76115642 chr13:76115634-76115643 chr13:76115631-76115644
20	SPI1	chr13:76115546-76115728	K562	blood:	n/a	chr13:76115635-76115642 chr13:76115634-76115643 chr13:76115631-76115644
21	ZNF143	chr13:76115738-76115864	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:76115526-76115576	A549	lung:	n/a
2	chr13:76115526-76115576	LNCaP	prostate:	n/a
3	chr13:76115526-76115576	HAEpiC	amniotic membrane:	n/a
4	chr13:76115526-76115576	HPAEpiC	pulmonary alveolar:	n/a
5	chr13:76115526-76115576	NH-A	brain:	n/a
6	chr13:76115526-76115576	Jurkat	blood:	n/a
7	chr13:76115526-76115576	NB4	blood:	n/a
8	chr13:76115526-76115576	HEEpiC	esophagus:	n/a
9	chr13:76115526-76115576	GM19239	blood:	n/a
10	chr13:76115526-76115576	MCF10A-Er-Src	breast:	n/a
11	chr13:76115526-76115576	BE2_C	brain:	n/a
12	chr13:76115526-76115576	ProgFib	skin:	n/a
13	chr13:76115526-76115576	AG04449	skin:	fetal
14	chr13:76115526-76115576	HRPEpiC	eye:	n/a
15	chr13:76115526-76115576	SK-N-SH_RA	brain:	n/a
16	chr13:76115526-76115576	SAEC	small airway:	n/a
17	chr13:76115526-76115576	HepG2	liver:	n/a
18	chr13:76115526-76115576	Hepatocyte	liver:	n/a
19	chr13:76115526-76115576	NHDF-neo	bronchial:	n/a
20	chr13:76115526-76115576	HCPEpiC	choroid plexus:	n/a
21	chr13:76115526-76115576	NHBE	bronchial:	n/a
22	chr13:76115526-76115576	HCM	heart:	n/a
23	chr13:76115526-76115576	HUVEC	blood vessel:	n/a
24	chr13:76115526-76115576	HRCEpiC	kidney:	n/a
25	chr13:76115526-76115576	AG09319	gingival:	n/a
26	chr13:76115526-76115576	NT2-D1	testis:	n/a
27	chr13:76115526-76115576	SK-N-SH	brain:	n/a
28	chr13:76115526-76115576	HCF	heart:	n/a
29	chr13:76115526-76115576	SKMC	muscle:	n/a
30	chr13:76115526-76115576	GM06990	blood:	n/a
31	chr13:76115526-76115576	Hela-S3	cervix:	n/a
32	chr13:76115526-76115576	PANC-1	pancreas:	n/a
33	chr13:76115526-76115576	MCF-7	breast:	n/a
34	chr13:76115526-76115576	BJ	skin:	n/a
35	chr13:76115526-76115576	HL-60	blood:	n/a
36	chr13:76115526-76115576	CMK	blood:	n/a
37	chr13:76115526-76115576	AG04450	lung:	fetal
38	chr13:76115526-76115576	HEK293	kidney:	embryo
39	chr13:76115526-76115576	GM12892	blood:	n/a
40	chr13:76115526-76115576	IMR90	lung:	fetal
41	chr13:76115526-76115576	H1-hESC	embryonic stem cell:	embryo
42	chr13:76115526-76115576	PrEC	prostate:	n/a
43	chr13:76115526-76115576	GM12878	blood:	n/a
44	chr13:76115526-76115576	SK-N-MC	brain:	n/a
45	chr13:76115526-76115576	HCT-116	colon:	n/a
46	chr13:76115526-76115576	AG10803	skin:	n/a
47	chr13:76115526-76115576	HNPCEpiC	eye:	n/a
48	chr13:76115526-76115576	HRE	kidney:	n/a
49	chr13:76115526-76115576	U87	brain:	n/a
50	chr13:76115526-76115576	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76115839..76118347-chr13:76129572..76131579,2	K562	blood:

Variant related genes	Relation type
COMMD6	TF binding region
COMMD6	CpG island

Extended variants
information (count: 119 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75889706	chr13:76114699-76114700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373441688	chr13:76114710-76114711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7995040	chr13:76114738-76114739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs543393595	chr13:76114796-76114797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9543969	chr13:76114801-76114802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577032858	chr13:76114825-76114826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190808012	chr13:76114938-76114939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144424042	chr13:76114953-76114954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555415430	chr13:76114975-76114976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555571593	chr13:76114991-76114992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574539080	chr13:76115028-76115029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183001495	chr13:76115029-76115030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531714198	chr13:76115041-76115042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545938620	chr13:76115061-76115062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549732877	chr13:76115103-76115104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574552207	chr13:76115160-76115161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138225732	chr13:76115251-76115252	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547773484	chr13:76115297-76115298	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs138001995	chr13:76115322-76115323	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs143707583	chr13:76115346-76115347	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs536403659	chr13:76115383-76115384	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs187875132	chr13:76115393-76115394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs192598563	chr13:76115428-76115429	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537158899	chr13:76115436-76115437	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs182920520	chr13:76115505-76115506	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs187597156	chr13:76115527-76115528	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs576740994	chr13:76115571-76115572	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs534843612	chr13:76115573-76115574	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs534656116	chr13:76115574-76115575	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs192826733	chr13:76115620-76115621	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs147204684	chr13:76115636-76115637	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541596722	chr13:76115643-76115644	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs563160499	chr13:76115646-76115647	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs540837875	chr13:76115648-76115649	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs184822424	chr13:76115701-76115702	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs543491373	chr13:76115756-76115757	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565427417	chr13:76115757-76115758	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs532390490	chr13:76115758-76115759	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs17350771	chr13:76115766-76115767	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs140493704	chr13:76115768-76115769	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs190008341	chr13:76115808-76115809	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs12865529	chr13:76115989-76115990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs570247780	chr13:76115992-76115993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192303352	chr13:76116018-76116019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552297036	chr13:76116037-76116038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570537670	chr13:76116064-76116065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534276709	chr13:76116065-76116066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551405442	chr13:76116077-76116078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568230497	chr13:76116106-76116107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183728393	chr13:76116122-76116123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76112200-76123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:76112600-76115000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr13:76112600-76115000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:76112600-76119200	Weak transcription	NHLF	lung
5	chr13:76112600-76122800	Weak transcription	Fetal Brain Male	brain
6	chr13:76112600-76123000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:76112600-76123000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:76112600-76123600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:76112800-76115000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr13:76112800-76115200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:76112800-76115200	Weak transcription	GM12878-XiMat	blood
12	chr13:76112800-76115200	Weak transcription	K562	blood
13	chr13:76112800-76116000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:76112800-76118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:76112800-76119200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:76112800-76122800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:76112800-76122800	Weak transcription	Brain Anterior Caudate	brain
18	chr13:76112800-76123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:76112800-76123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:76112800-76123000	Weak transcription	Adipose Nuclei	Adipose
21	chr13:76114200-76118600	Weak transcription	Osteobl	bone
22	chr13:76114400-76118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:76114600-76114800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:76114600-76115600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr13:76114600-76116200	Enhancers	HepG2	liver
26	chr13:76114800-76117800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:76115000-76116000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr13:76115000-76116400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr13:76115000-76117400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr13:76115200-76115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:76115200-76115800	Enhancers	K562	blood
32	chr13:76115200-76116000	Enhancers	GM12878-XiMat	blood
33	chr13:76115600-76120200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:76115800-76119200	Weak transcription	K562	blood
35	chr13:76115800-76120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:76116000-76117000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:76116000-76123000	Weak transcription	GM12878-XiMat	blood
38	chr13:76116200-76116600	Weak transcription	HepG2	liver
39	chr13:76116400-76123200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr13:76116600-76119600	Enhancers	HepG2	liver
41	chr13:76117400-76118800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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