Variant report

Variant	esv3420739
Chromosome Location	chr13:79965851-79967449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr13:79966931-79967440	GM12878	blood:	n/a	n/a
2	BATF	chr13:79967051-79967347	GM12878	blood:	n/a	n/a
3	BATF	chr13:79966955-79967389	GM12878	blood:	n/a	n/a
4	BCLAF1	chr13:79966935-79967406	GM12878	blood:	n/a	n/a
5	BCLAF1	chr13:79966886-79967452	GM12878	blood:	n/a	n/a
6	BHLHE40	chr13:79966993-79968510	GM12878	blood:	n/a	n/a
7	CTCF	chr13:79965780-79965930	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr13:79965780-79965930	GM12865	blood:	n/a	n/a
9	CTCF	chr13:79965780-79965930	Caco-2	colon:	n/a	n/a
10	CTCF	chr13:79965196-79965947	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr13:79965271-79965938	A549	lung:	n/a	n/a
12	E2F4	chr13:79967146-79967413	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr13:79966963-79967368	GM12878	blood:	n/a	n/a
14	FOS	chr13:79966979-79967358	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr13:79966964-79967335	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr13:79966985-79967351	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr13:79966956-79967372	HUVEC	blood vessel:	n/a	n/a
18	FOXA1	chr13:79966870-79967080	T-47D	breast:	n/a	n/a
19	FOXA2	chr13:79966910-79967089	HepG2	liver:	n/a	n/a
20	FOXM1	chr13:79966921-79967403	GM12878	blood:	n/a	n/a
21	GATA2	chr13:79966886-79967429	HUVEC	blood vessel:	n/a	chr13:79967123-79967137
22	GATA3	chr13:79966771-79967540	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr13:79966857-79967404	SK-N-SH	brain:	n/a	n/a
24	JUN	chr13:79967019-79967281	K562	blood:	n/a	n/a
25	JUND	chr13:79966925-79967361	K562	blood:	n/a	n/a
26	KAP1	chr13:79966948-79968694	U2OS	brain:	n/a	n/a
27	KAP1	chr13:79966945-79968673	HEK293	kidney:	n/a	n/a
28	MAX	chr13:79967011-79967273	K562	blood:	n/a	n/a
29	MAX	chr13:79966981-79968561	NB4	blood:	n/a	n/a
30	MTA3	chr13:79966908-79967444	GM12878	blood:	n/a	n/a
31	MYC	chr13:79967004-79967321	NB4	blood:	n/a	n/a
32	MYC	chr13:79967043-79967289	MCF10A-Er-Src	breast:	n/a	n/a
33	NFATC1	chr13:79966889-79967541	GM12878	blood:	n/a	n/a
34	NFATC1	chr13:79967025-79967422	GM12878	blood:	n/a	n/a
35	NFIC	chr13:79966948-79967466	GM12878	blood:	n/a	n/a
36	PML	chr13:79966880-79968057	GM12878	blood:	n/a	n/a
37	POLR2A	chr13:79967292-79968664	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr13:79967012-79968774	GM12892	blood:	n/a	n/a
39	POLR2A	chr13:79967038-79968512	GM12891	blood:	n/a	n/a
40	POLR2A	chr13:79966991-79968533	K562	blood:	n/a	n/a
41	POLR2A	chr13:79966954-79968575	GM12878	blood:	n/a	n/a
42	POLR2A	chr13:79966945-79967332	U87	brain:	n/a	n/a
43	POLR2A	chr13:79967190-79969200	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr13:79967068-79968704	GM12892	blood:	n/a	n/a
45	POLR2A	chr13:79967143-79968364	GM12891	blood:	n/a	n/a
46	POLR2A	chr13:79966860-79966896	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr13:79966996-79969402	HepG2	liver:	n/a	n/a
48	POLR2A	chr13:79967010-79968827	GM12878	blood:	n/a	n/a
49	POLR2A	chr13:79966999-79968545	GM12891	blood:	n/a	n/a
50	POLR2A	chr13:79967005-79968577	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:79958743..79963128-chr13:79965623..79969929,4	K562	blood:
2	chr13:79966275..79969690-chr13:79971723..79976630,6	K562	blood:
3	chr13:79959228..79961177-chr13:79966634..79969292,3	MCF-7	breast:
4	chr13:79964555..79966375-chr13:79975893..79978787,3	MCF-7	breast:
5	chr13:79967156..79970145-chr13:79977393..79982048,5	MCF-7	breast:
6	chr13:79965413..79968619-chr13:79980082..79982197,3	K562	blood:

No data

Variant related genes	Relation type
RNA5SP33	TF binding region
ENSG00000227354	chromatin interactions
ENSG00000139746	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561870540	chr13:79965894-79965895	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs551047269	chr13:79965915-79965916	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201367143	chr13:79965926-79965927	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs571521111	chr13:79966009-79966010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533840533	chr13:79966031-79966032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184543867	chr13:79966040-79966041	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111381174	chr13:79966098-79966099	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564418914	chr13:79966128-79966129	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371349844	chr13:79966147-79966148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs77084012	chr13:79966148-79966149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs33920706	chr13:79966149-79966150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs398070361	chr13:79966153-79966154	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs57348806	chr13:79966154-79966155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200793685	chr13:79966155-79966156	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs36099968	chr13:79966156-79966157	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs71436686	chr13:79966169-79966170	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs13378998	chr13:79966176-79966177	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs10539555	chr13:79966183-79966184	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs80252290	chr13:79966188-79966189	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs112212112	chr13:79966193-79966194	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs71436687	chr13:79966196-79966197	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs576169314	chr13:79966198-79966199	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs13378513	chr13:79966199-79966200	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs9574417	chr13:79966207-79966208	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs35514325	chr13:79966212-79966213	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs10569561	chr13:79966224-79966225	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs536769142	chr13:79966241-79966242	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs61032879	chr13:79966248-79966249	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs199821895	chr13:79966259-79966260	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs13379002	chr13:79966262-79966263	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs6563105	chr13:79966264-79966265	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs13378779	chr13:79966295-79966296	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs13379003	chr13:79966298-79966299	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs545390584	chr13:79966300-79966301	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs542544595	chr13:79966305-79966306	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs578160124	chr13:79966307-79966308	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs184122066	chr13:79966334-79966335	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs189918159	chr13:79966336-79966337	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs113343884	chr13:79966372-79966373	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs12874756	chr13:79966386-79966387	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs201945176	chr13:79966399-79966400	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs12874752	chr13:79966412-79966413	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs558679017	chr13:79966444-79966445	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs572739676	chr13:79966445-79966446	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs36129367	chr13:79966457-79966458	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs541347263	chr13:79966601-79966602	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs7986306	chr13:79966665-79966666	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs546433026	chr13:79966696-79966697	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543575113	chr13:79966739-79966740	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34770266	chr13:79966741-79966742	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Prostate cancer	22341455	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79942000-79967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:79946400-79969200	Weak transcription	Fetal Kidney	kidney
3	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
4	chr13:79951600-79969000	Weak transcription	Fetal Brain Male	brain
5	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
6	chr13:79952000-79967200	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:79952000-79967600	Weak transcription	Gastric	stomach
8	chr13:79952200-79967600	Weak transcription	Pancreas	Pancrea
9	chr13:79952200-79967600	Weak transcription	Spleen	Spleen
10	chr13:79952400-79966800	Weak transcription	Thymus	Thymus
11	chr13:79952400-79967000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:79952400-79967200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:79952400-79967200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr13:79952400-79967200	Weak transcription	Fetal Lung	lung
15	chr13:79952400-79967400	Weak transcription	Fetal Brain Female	brain
16	chr13:79952400-79967600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:79952400-79967600	Weak transcription	Left Ventricle	heart
18	chr13:79952400-79967600	Weak transcription	Right Ventricle	heart
19	chr13:79952400-79967800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:79952600-79966800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr13:79952800-79966800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr13:79952800-79966800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:79952800-79967200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:79952800-79967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:79952800-79967800	Weak transcription	Fetal Stomach	stomach
27	chr13:79953000-79967200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr13:79953000-79967200	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:79953000-79967400	Weak transcription	Placenta	Placenta
30	chr13:79953200-79967400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:79953400-79966800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:79954200-79966200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr13:79954400-79969000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:79955000-79966200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr13:79955600-79966200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:79956800-79966200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr13:79957000-79967200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr13:79957000-79967200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr13:79957200-79967000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr13:79957200-79967000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr13:79957200-79967200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr13:79958600-79966800	Enhancers	Primary T cells from cord blood	blood
43	chr13:79958600-79971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:79958800-79966800	Weak transcription	Fetal Thymus	thymus
45	chr13:79958800-79967200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:79958800-79967600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:79958800-79969600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr13:79958800-79969800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr13:79958800-79969800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:79958800-79971000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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