Variant report

Variant	esv3361416
Chromosome Location	chr13:79967950-79968155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:79967928-79968357	HepG2	liver:	n/a	n/a
2	BHLHE40	chr13:79967878-79968249	HepG2	liver:	n/a	n/a
3	BHLHE40	chr13:79967628-79968425	HepG2	liver:	n/a	n/a
4	BHLHE40	chr13:79967780-79968441	K562	blood:	n/a	n/a
5	BHLHE40	chr13:79966993-79968510	GM12878	blood:	n/a	n/a
6	CBX3	chr13:79967947-79968285	K562	blood:	n/a	n/a
7	CHD2	chr13:79968089-79968198	K562	blood:	n/a	n/a
8	CHD2	chr13:79967823-79968363	GM12878	blood:	n/a	n/a
9	CTCF	chr13:79968087-79968136	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr13:79968140-79968455	GM12878	blood:	n/a	n/a
11	CUX1	chr13:79968108-79968168	K562	blood:	n/a	n/a
12	EBF1	chr13:79967916-79968622	GM12878	blood:	n/a	chr13:79968222-79968233
13	EBF1	chr13:79967968-79968404	GM12878	blood:	n/a	chr13:79968222-79968233
14	EBF1	chr13:79968021-79968468	GM12878	blood:	n/a	chr13:79968222-79968233
15	ELF1	chr13:79967940-79968481	MCF-7	breast:	n/a	n/a
16	ELF1	chr13:79967929-79968340	HepG2	liver:	n/a	n/a
17	ELF1	chr13:79967935-79968392	HepG2	liver:	n/a	n/a
18	ELK1	chr13:79968043-79968277	GM12878	blood:	n/a	n/a
19	EP300	chr13:79967954-79968292	GM12878	blood:	n/a	n/a
20	EP300	chr13:79967859-79968341	HepG2	liver:	n/a	n/a
21	EP300	chr13:79968068-79968424	K562	blood:	n/a	n/a
22	EP300	chr13:79967968-79968213	HepG2	liver:	n/a	n/a
23	FOXA1	chr13:79967898-79968483	HepG2	liver:	n/a	n/a
24	FOXA1	chr13:79967843-79968381	HepG2	liver:	n/a	n/a
25	FOXA1	chr13:79967890-79968438	HepG2	liver:	n/a	n/a
26	FOXA1	chr13:79967960-79968453	T-47D	breast:	n/a	n/a
27	FOXA1	chr13:79967850-79968449	HepG2	liver:	n/a	n/a
28	FOXA1	chr13:79967928-79968423	T-47D	breast:	n/a	n/a
29	FOXA2	chr13:79967730-79968631	HepG2	liver:	n/a	n/a
30	FOXA2	chr13:79967931-79968378	HepG2	liver:	n/a	n/a
31	FOXA2	chr13:79967952-79968473	A549	lung:	n/a	n/a
32	GATA3	chr13:79967977-79968376	T-47D	breast:	n/a	n/a
33	GATA3	chr13:79967855-79968513	MCF-7	breast:	n/a	n/a
34	GATA3	chr13:79967958-79968403	T-47D	breast:	n/a	n/a
35	GATA3	chr13:79967897-79968555	MCF-7	breast:	n/a	n/a
36	GATA3	chr13:79967795-79968393	MCF-7	breast:	n/a	n/a
37	HA-E2F1	chr13:79967623-79968613	MCF-7	breast:	n/a	n/a
38	HDAC2	chr13:79967931-79968361	MCF-7	breast:	n/a	n/a
39	HDAC2	chr13:79967821-79968297	HepG2	liver:	n/a	n/a
40	HDAC2	chr13:79967861-79968381	HepG2	liver:	n/a	n/a
41	HEY1	chr13:79967873-79968100	HepG2	liver:	n/a	n/a
42	HEY1	chr13:79967791-79968244	HepG2	liver:	n/a	n/a
43	HNF4A	chr13:79967862-79968283	HepG2	liver:	n/a	n/a
44	HNF4A	chr13:79967962-79968261	HepG2	liver:	n/a	n/a
45	IRF1	chr13:79968112-79968322	K562	blood:	n/a	n/a
46	JUND	chr13:79967980-79968302	HepG2	liver:	n/a	n/a
47	JUND	chr13:79967971-79968376	K562	blood:	n/a	n/a
48	KAP1	chr13:79966945-79968673	HEK293	kidney:	n/a	n/a
49	KAP1	chr13:79966948-79968694	U2OS	brain:	n/a	n/a
50	MAX	chr13:79967714-79968550	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9574418	chr13:79968009-79968010	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554496597	chr13:79968040-79968041	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs145389188	chr13:79968041-79968042	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs376576894	chr13:79968069-79968070	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574839616	chr13:79968074-79968075	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs537338015	chr13:79968075-79968076	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs557164749	chr13:79968085-79968086	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs577343527	chr13:79968093-79968094	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575111769	chr13:79968096-79968097	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs73234640	chr13:79968127-79968128	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1590465	chr13:79968133-79968134	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79946400-79969200	Weak transcription	Fetal Kidney	kidney
2	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
3	chr13:79951600-79969000	Weak transcription	Fetal Brain Male	brain
4	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
5	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:79954400-79969000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:79958600-79971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:79958800-79969600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:79958800-79969800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:79958800-79969800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr13:79958800-79971000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:79958800-79977800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:79960600-79969800	Weak transcription	HSMMtube	muscle
14	chr13:79960600-79975600	Weak transcription	Ovary	ovary
15	chr13:79960800-79971400	Weak transcription	NHLF	lung
16	chr13:79961000-79969800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:79961600-79970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:79962200-79969000	Weak transcription	Brain Germinal Matrix	brain
19	chr13:79962800-79973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:79962800-79974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:79964600-79969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr13:79965600-79969200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:79966000-79969800	Weak transcription	Hela-S3	cervix
24	chr13:79966800-79968000	Enhancers	Fetal Intestine Small	intestine
25	chr13:79966800-79968000	Enhancers	HMEC	breast
26	chr13:79966800-79968000	Enhancers	HUVEC	blood vessel
27	chr13:79966800-79968200	Enhancers	Osteobl	bone
28	chr13:79966800-79968400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr13:79966800-79968400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:79966800-79968400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr13:79966800-79968400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:79966800-79968600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:79966800-79968600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:79966800-79968600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr13:79966800-79968800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr13:79966800-79968800	Enhancers	Thymus	Thymus
37	chr13:79966800-79969200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:79967000-79968000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr13:79967000-79968200	Enhancers	Brain Angular Gyrus	brain
40	chr13:79967000-79968200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr13:79967000-79968400	Enhancers	Brain Anterior Caudate	brain
42	chr13:79967000-79968400	Enhancers	Fetal Intestine Large	intestine
43	chr13:79967000-79968400	Enhancers	Stomach Mucosa	stomach
44	chr13:79967000-79968400	Enhancers	NH-A	brain
45	chr13:79967000-79968600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr13:79967000-79968600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr13:79967000-79968600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr13:79967000-79968600	Enhancers	Colon Smooth Muscle	Colon
49	chr13:79967000-79968600	Enhancers	Psoas Muscle	Psoas
50	chr13:79967000-79968800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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