Variant report

Variant	esv5327
Chromosome Location	chr13:111126825-111127237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr13:111126909-111127591	GM12878	blood:	n/a	n/a
2	BCL3	chr13:111126786-111127625	GM12878	blood:	n/a	n/a
3	BHLHE40	chr13:111126884-111127576	K562	blood:	n/a	n/a
4	BRCA1	chr13:111127223-111127240	GM12878	blood:	n/a	n/a
5	CTCF	chr13:111127146-111127206	MCF-7	breast:	n/a	n/a
6	CTCF	chr13:111127207-111127220	MCF-7	breast:	n/a	n/a
7	CTCF	chr13:111127126-111127129	GM12891	blood:	n/a	n/a
8	CTCF	chr13:111126942-111126954	GM12891	blood:	n/a	n/a
9	CTCF	chr13:111126920-111126935	GM12891	blood:	n/a	n/a
10	CTCF	chr13:111126858-111127460	GM19239	blood:	n/a	n/a
11	CTCF	chr13:111127056-111127177	MCF-7	breast:	n/a	n/a
12	CTCF	chr13:111127104-111127150	MCF-7	breast:	n/a	n/a
13	CTCF	chr13:111127096-111127162	NHEK	skin:	n/a	n/a
14	CTCF	chr13:111127131-111127136	GM12891	blood:	n/a	n/a
15	CTCF	chr13:111126955-111127123	GM12891	blood:	n/a	n/a
16	CTCF	chr13:111127117-111127238	GM12892	blood:	n/a	n/a
17	MAX	chr13:111126878-111127334	NB4	blood:	n/a	chr13:111126934-111126944 chr13:111126984-111126994
18	MAX	chr13:111127070-111127640	K562	blood:	n/a	n/a
19	MTA3	chr13:111126894-111127446	GM12878	blood:	n/a	n/a
20	MYC	chr13:111126989-111127376	MCF-7	breast:	n/a	n/a
21	MYC	chr13:111127124-111127147	MCF-7	breast:	n/a	n/a
22	MYC	chr13:111126957-111127325	MCF-7	breast:	n/a	chr13:111126984-111126994
23	MYC	chr13:111127003-111127272	MCF-7	breast:	n/a	n/a
24	NFATC1	chr13:111126738-111127606	GM12878	blood:	n/a	n/a
25	NFATC1	chr13:111126736-111127761	GM12878	blood:	n/a	n/a
26	NR2C2	chr13:111126894-111127543	GM12878	blood:	n/a	n/a
27	PBX3	chr13:111126925-111127534	GM12878	blood:	n/a	n/a
28	POLR2A	chr13:111126905-111127170	Gliobla	brain:	n/a	n/a
29	POLR2A	chr13:111127180-111127192	Gliobla	brain:	n/a	n/a
30	POLR2A	chr13:111126876-111127400	MCF-7	breast:	n/a	n/a
31	POLR2A	chr13:111127010-111127357	A549	lung:	n/a	n/a
32	POLR2A	chr13:111126968-111127368	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr13:111126922-111127416	MCF-7	breast:	n/a	n/a
34	POLR2A	chr13:111126897-111126898	Gliobla	brain:	n/a	n/a
35	POLR2A	chr13:111127207-111127279	Gliobla	brain:	n/a	n/a
36	POLR2A	chr13:111127198-111127199	Gliobla	brain:	n/a	n/a
37	POLR2A	chr13:111126864-111127287	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr13:111126787-111127032	H1-hESC	embryonic stem cell:	n/a	n/a
39	STAT5A	chr13:111126887-111127497	GM12878	blood:	n/a	n/a
40	STAT5A	chr13:111127020-111127498	GM12878	blood:	n/a	n/a
41	SUZ12	chr13:111126820-111127445	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF3	chr13:111126867-111127601	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111125375..111127376-chr13:111131017..111133682,2	K562	blood:

No data

Variant related genes	Relation type
COL4A2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561035418	chr13:111126842-111126843	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539427615	chr13:111126846-111126847	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs186167738	chr13:111126886-111126887	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191483436	chr13:111126897-111126898	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs60673441	chr13:111126919-111126920	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs67360469	chr13:111126920-111126921	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12864869	chr13:111126947-111126948	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12865684	chr13:111126964-111126965	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573912897	chr13:111126973-111126974	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541684222	chr13:111126988-111126989	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs12864505	chr13:111126995-111126996	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs12864889	chr13:111127001-111127002	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs202163642	chr13:111127004-111127005	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs113248165	chr13:111127023-111127024	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs67366869	chr13:111127024-111127025	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200493896	chr13:111127030-111127031	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566636773	chr13:111127035-111127036	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs147507007	chr13:111127042-111127043	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs74622805	chr13:111127051-111127052	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs146041328	chr13:111127056-111127057	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs66476117	chr13:111127057-111127058	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs60882258	chr13:111127058-111127059	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531386088	chr13:111127071-111127072	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549910383	chr13:111127075-111127076	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs118141393	chr13:111127077-111127078	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561829253	chr13:111127087-111127088	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs144123756	chr13:111127092-111127093	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529121654	chr13:111127093-111127094	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs201673818	chr13:111127096-111127097	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375499965	chr13:111127106-111127107	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377272278	chr13:111127109-111127110	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369121814	chr13:111127110-111127111	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547596728	chr13:111127117-111127118	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs9555708	chr13:111127141-111127142	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11616552	chr13:111127163-111127164	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs533298526	chr13:111127179-111127180	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11616554	chr13:111127191-111127192	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11617583	chr13:111127197-111127198	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113837659	chr13:111127199-111127200	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143235738	chr13:111127205-111127206	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112467204	chr13:111127215-111127216	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs551439651	chr13:111127217-111127218	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs569724319	chr13:111127229-111127230	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	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
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
6	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
7	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:111108600-111127000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
11	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
12	chr13:111108800-111127000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:111108800-111130200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
15	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
16	chr13:111109000-111129200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:111109600-111131000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
20	chr13:111109600-111158800	Strong transcription	Ovary	ovary
21	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:111112000-111127000	Weak transcription	Esophagus	oesophagus
24	chr13:111114000-111131600	Strong transcription	Colon Smooth Muscle	Colon
25	chr13:111114200-111138800	Strong transcription	Aorta	Aorta
26	chr13:111116200-111130400	Weak transcription	Psoas Muscle	Psoas
27	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:111117400-111127000	Strong transcription	Fetal Lung	lung
29	chr13:111117800-111130200	Strong transcription	Left Ventricle	heart
30	chr13:111118000-111127800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr13:111118200-111129200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:111118800-111127000	Weak transcription	Fetal Brain Male	brain
33	chr13:111119000-111127200	Weak transcription	Brain Substantia Nigra	brain
34	chr13:111119000-111142600	Weak transcription	Stomach Mucosa	stomach
35	chr13:111119000-111143600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:111119200-111138200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
38	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:111119600-111129000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:111119600-111139800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
42	chr13:111119800-111129400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:111120800-111127000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr13:111122000-111127200	Strong transcription	Gastric	stomach
45	chr13:111122400-111129200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr13:111123000-111127000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:111123200-111127200	Strong transcription	Placenta	Placenta
48	chr13:111123200-111128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr13:111123200-111129200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:111123800-111127800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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