Variant report

Variant	esv14464
Chromosome Location	chr13:98086068-98086863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:98085366-98086241	HepG2	liver:	n/a	n/a
2	ATF2	chr13:98085038-98086272	GM12878	blood:	n/a	chr13:98085691-98085705 chr13:98085693-98085704
3	ATF2	chr13:98085304-98086176	GM12878	blood:	n/a	chr13:98085691-98085705 chr13:98085693-98085704
4	ATF3	chr13:98086060-98086274	K562	blood:	n/a	n/a
5	BHLHE40	chr13:98085153-98086201	HepG2	liver:	n/a	chr13:98085193-98085209
6	BHLHE40	chr13:98086852-98087065	K562	blood:	n/a	n/a
7	BHLHE40	chr13:98085211-98086183	K562	blood:	n/a	n/a
8	BHLHE40	chr13:98084588-98086514	GM12878	blood:	n/a	chr13:98085193-98085209
9	BRCA1	chr13:98085144-98086211	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr13:98085978-98086076	GM12878	blood:	n/a	n/a
11	CCNT2	chr13:98085530-98087217	K562	blood:	n/a	n/a
12	CEBPB	chr13:98085277-98086202	GM12878	blood:	n/a	n/a
13	CEBPD	chr13:98086329-98086647	HepG2	liver:	n/a	n/a
14	CHD1	chr13:98084569-98086399	IMR90	lung:	n/a	n/a
15	CHD1	chr13:98086757-98087423	GM12878	blood:	n/a	n/a
16	CHD1	chr13:98085472-98086164	GM12878	blood:	n/a	n/a
17	CHD2	chr13:98084963-98086180	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr13:98085986-98086237	K562	blood:	n/a	n/a
19	CHD2	chr13:98084646-98086472	GM12878	blood:	n/a	n/a
20	CHD2	chr13:98085046-98086569	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr13:98086724-98086950	GM12878	blood:	n/a	n/a
22	CHD2	chr13:98085047-98086204	HepG2	liver:	n/a	n/a
23	CREB1	chr13:98084846-98086885	HepG2	liver:	n/a	n/a
24	CREB1	chr13:98085953-98086408	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr13:98086027-98086404	A549	lung:	n/a	n/a
26	CREB1	chr13:98084933-98086350	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr13:98084926-98086607	HepG2	liver:	n/a	n/a
28	CREB1	chr13:98084625-98086337	GM12878	blood:	n/a	n/a
29	CREB1	chr13:98084883-98086360	GM12878	blood:	n/a	n/a
30	CTCF	chr13:98086127-98086280	GM12891	blood:	n/a	n/a
31	CTCF	chr13:98086098-98086290	GM12892	blood:	n/a	n/a
32	CTCF	chr13:98086140-98086278	GM10248	blood:	n/a	n/a
33	CTCF	chr13:98085493-98086286	K562	blood:	n/a	n/a
34	CTCF	chr13:98086060-98086210	AG04449	skin:	n/a	n/a
35	CTCF	chr13:98086163-98086268	GM13976	blood:	n/a	n/a
36	CTCF	chr13:98086149-98086223	ProgFib	skin:	n/a	n/a
37	CTCF	chr13:98086158-98086271	LNCaP	prostate:	n/a	n/a
38	CTCF	chr13:98086212-98086215	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr13:98086140-98086290	GM12871	blood:	n/a	n/a
40	CTCF	chr13:98086760-98086910	AG04449	skin:	n/a	n/a
41	CTCF	chr13:98085209-98086430	GM12878	blood:	n/a	n/a
42	CTCF	chr13:98086136-98086269	LNCaP	prostate:	n/a	n/a
43	CTCF	chr13:98086100-98086250	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr13:98086162-98086239	Fibrobl	skin:	n/a	n/a
45	CTCF	chr13:98086120-98086270	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr13:98086140-98086290	GM12875	blood:	n/a	n/a
47	CTCF	chr13:98086138-98086276	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr13:98086080-98086230	AG09319	gingival:	n/a	n/a
49	CTCF	chr13:98086120-98086270	GM12869	blood:	n/a	n/a
50	CTCF	chr13:98086053-98086324	IMR90	lung:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:98086635-98086685	PANC-1	pancreas:	n/a
2	chr13:98086433-98086483	GM12891	blood:	n/a
3	chr13:98086433-98086483	MCF10A-Er-Src	breast:	n/a
4	chr13:98086635-98086685	Caco-2	colon:	n/a
5	chr13:98086635-98086685	CMK	blood:	n/a
6	chr13:98086784-98086834	HCM	heart:	n/a
7	chr13:98086784-98086834	HIPEpiC	eye:	n/a
8	chr13:98086427-98086477	GM19239	blood:	n/a
9	chr13:98086784-98086834	GM12892	blood:	n/a
10	chr13:98086433-98086483	AG04450	lung:	fetal
11	chr13:98086427-98086477	HAEpiC	amniotic membrane:	n/a
12	chr13:98086433-98086483	NHDF-neo	bronchial:	n/a
13	chr13:98086635-98086685	AG04449	skin:	fetal
14	chr13:98086427-98086477	GM12878	blood:	n/a
15	chr13:98086784-98086834	PFSK-1	brain:	n/a
16	chr13:98086635-98086685	HNPCEpiC	eye:	n/a
17	chr13:98086784-98086834	SK-N-SH	brain:	n/a
18	chr13:98086784-98086834	HCPEpiC	choroid plexus:	n/a
19	chr13:98086784-98086834	GM12878	blood:	n/a
20	chr13:98086427-98086477	SK-N-MC	brain:	n/a
21	chr13:98086427-98086477	AG10803	skin:	n/a
22	chr13:98086427-98086477	MCF10A-Er-Src	breast:	n/a
23	chr13:98086433-98086483	AG04449	skin:	fetal
24	chr13:98086433-98086483	LNCaP	prostate:	n/a
25	chr13:98086433-98086483	MCF-7	breast:	n/a
26	chr13:98086427-98086477	PANC-1	pancreas:	n/a
27	chr13:98086433-98086483	HCT-116	colon:	n/a
28	chr13:98086427-98086477	HEEpiC	esophagus:	n/a
29	chr13:98086635-98086685	GM12891	blood:	n/a
30	chr13:98086427-98086477	PrEC	prostate:	n/a
31	chr13:98086635-98086685	Jurkat	blood:	n/a
32	chr13:98086635-98086685	SK-N-MC	brain:	n/a
33	chr13:98086433-98086483	HCM	heart:	n/a
34	chr13:98086635-98086685	NHBE	bronchial:	n/a
35	chr13:98086635-98086685	BE2_C	brain:	n/a
36	chr13:98086784-98086834	IMR90	lung:	fetal
37	chr13:98086427-98086477	Jurkat	blood:	n/a
38	chr13:98086635-98086685	HEK293	kidney:	embryo
39	chr13:98086635-98086685	SKMC	muscle:	n/a
40	chr13:98086427-98086477	Caco-2	colon:	n/a
41	chr13:98086635-98086685	HRCEpiC	kidney:	n/a
42	chr13:98086427-98086477	H1-hESC	embryonic stem cell:	embryo
43	chr13:98086635-98086685	AG09309	skin:	n/a
44	chr13:98086784-98086834	CMK	blood:	n/a
45	chr13:98086635-98086685	MCF10A-Er-Src	breast:	n/a
46	chr13:98086784-98086834	HL-60	blood:	n/a
47	chr13:98086427-98086477	SAEC	small airway:	n/a
48	chr13:98086433-98086483	BJ	skin:	n/a
49	chr13:98086635-98086685	PrEC	prostate:	n/a
50	chr13:98086433-98086483	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:98078675..98081221-chr13:98083499..98086151,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OXGR1-6	chr13:98081597-98086236	NONHSAT034832

No data

Variant related genes	Relation type
RAP2A	TF binding region
RAP2A	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562524528	chr13:98086070-98086071	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs112421671	chr13:98086071-98086072	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs541938100	chr13:98086087-98086088	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs536076837	chr13:98086118-98086119	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs191383978	chr13:98086127-98086128	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs541863362	chr13:98086128-98086129	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs527382848	chr13:98086131-98086132	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs540984018	chr13:98086166-98086167	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs117108322	chr13:98086172-98086173	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs532666758	chr13:98086174-98086175	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs555668663	chr13:98086206-98086207	Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs142668107	chr13:98086208-98086209	Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs569334901	chr13:98086209-98086210	Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs183625001	chr13:98086276-98086277	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs548378571	chr13:98086289-98086290	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568176615	chr13:98086325-98086326	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531644837	chr13:98086354-98086355	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534044793	chr13:98086660-98086661	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs142680454	chr13:98086723-98086724	Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541325134	chr13:98086726-98086727	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200704138	chr13:98086747-98086748	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376462354	chr13:98086749-98086750	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188378809	chr13:98086786-98086787	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98083200-98088000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr13:98083400-98088800	Active TSS	GM12878-XiMat	blood
3	chr13:98083600-98088200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr13:98083800-98088600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:98083800-98089200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr13:98084000-98088000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:98084000-98088600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr13:98084000-98088800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr13:98084000-98088800	Active TSS	Fetal Kidney	kidney
10	chr13:98084000-98089200	Active TSS	NHLF	lung
11	chr13:98084200-98088000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:98084200-98088000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:98084200-98088000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:98084200-98088200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:98084200-98089000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:98084200-98089000	Active TSS	NHDF-Ad	bronchial
17	chr13:98084400-98087200	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr13:98084400-98087600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr13:98084400-98087600	Active TSS	A549	lung
20	chr13:98084400-98088000	Active TSS	Duodenum Mucosa	Duodenum
21	chr13:98084400-98088000	Active TSS	Rectal Smooth Muscle	rectum
22	chr13:98084400-98088200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:98084400-98088200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:98084400-98088400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:98084400-98088400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:98084400-98088400	Active TSS	Fetal Thymus	thymus
27	chr13:98084400-98088400	Active TSS	HSMM	muscle
28	chr13:98084400-98088600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr13:98084400-98088600	Active TSS	Fetal Muscle Leg	muscle
30	chr13:98084400-98088600	Active TSS	Fetal Stomach	stomach
31	chr13:98084400-98088800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr13:98084400-98088800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:98084400-98088800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:98084400-98088800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:98084400-98089000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:98084400-98089200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:98084400-98089200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr13:98084400-98089600	Active TSS	Right Atrium	heart
39	chr13:98084600-98087000	Active TSS	Brain Germinal Matrix	brain
40	chr13:98084600-98087400	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr13:98084600-98087400	Active TSS	Gastric	stomach
42	chr13:98084600-98087400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr13:98084600-98087600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr13:98084600-98087600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr13:98084600-98087600	Active TSS	Colon Smooth Muscle	Colon
46	chr13:98084600-98087600	ZNF genes & repeats	Fetal Brain Male	brain
47	chr13:98084600-98087600	Active TSS	Lung	lung
48	chr13:98084600-98087600	Active TSS	Psoas Muscle	Psoas
49	chr13:98084600-98087800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:98084600-98087800	Active TSS	Colonic Mucosa	Colon

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