Variant report

Variant	esv3362122
Chromosome Location	chr13:49038501-49046699
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	CEBPB	chr13:49038539-49038856	A549	lung:	n/a	chr13:49038670-49038683 chr13:49038672-49038681 chr13:49038672-49038681 chr13:49038670-49038681 chr13:49038672-49038681
2	CEBPB	chr13:49038562-49038815	Hela-S3	cervix:	n/a	chr13:49038670-49038683 chr13:49038672-49038681 chr13:49038672-49038681 chr13:49038670-49038681 chr13:49038672-49038681
3	CEBPB	chr13:49038516-49038858	IMR90	lung:	n/a	chr13:49038670-49038683 chr13:49038672-49038681 chr13:49038672-49038681 chr13:49038670-49038681 chr13:49038672-49038681
4	CEBPB	chr13:49038529-49038834	HepG2	liver:	n/a	chr13:49038670-49038683 chr13:49038672-49038681 chr13:49038672-49038681 chr13:49038670-49038681 chr13:49038672-49038681
5	CEBPB	chr13:49038500-49038716	H1-hESC	embryonic stem cell:	n/a	chr13:49038670-49038683 chr13:49038672-49038681 chr13:49038672-49038681 chr13:49038670-49038681 chr13:49038672-49038681
6	CEBPB	chr13:49038560-49038855	K562	blood:	n/a	chr13:49038670-49038683 chr13:49038672-49038681 chr13:49038672-49038681 chr13:49038670-49038681 chr13:49038672-49038681
7	E2F4	chr13:49039396-49039527	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA1	chr13:49040052-49040276	HepG2	liver:	n/a	n/a
9	FOXA2	chr13:49040010-49040266	A549	lung:	n/a	n/a
10	FOXA2	chr13:49039840-49040427	A549	lung:	n/a	n/a
11	POLR2A	chr13:49040049-49040174	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr13:49042157-49042305	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121484521..121485222-chr13:49045277..49046048,2	MCF-7	breast:

Variant related genes	Relation type
RB1	TF binding region

Extended variants
information (count: 161 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186926674	chr13:49038513-49038514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191369418	chr13:49038519-49038520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575080307	chr13:49038530-49038531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539837660	chr13:49038564-49038565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533712571	chr13:49038618-49038619	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561371785	chr13:49038667-49038668	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs198590	chr13:49038677-49038678	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs550425837	chr13:49038707-49038708	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567058208	chr13:49038711-49038712	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs149515147	chr13:49038755-49038756	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566521491	chr13:49038780-49038781	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs533101242	chr13:49038794-49038795	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551296594	chr13:49038825-49038826	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79789088	chr13:49038832-49038833	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535172660	chr13:49038849-49038850	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181217485	chr13:49038853-49038854	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185445747	chr13:49038860-49038861	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189912695	chr13:49038987-49038988	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114464494	chr13:49038989-49038990	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575853122	chr13:49039028-49039029	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540011676	chr13:49039055-49039056	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78988983	chr13:49039086-49039087	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145476414	chr13:49039093-49039094	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11330135	chr13:49039095-49039096	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553094345	chr13:49039112-49039113	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201258424	chr13:49039118-49039119	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372815788	chr13:49039119-49039120	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80122842	chr13:49039120-49039121	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529366765	chr13:49039143-49039144	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3092905	chr13:49039159-49039160	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs121913297	chr13:49039164-49039165	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373070661	chr13:49039175-49039176	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558114005	chr13:49039196-49039197	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138637932	chr13:49039212-49039213	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs267603841	chr13:49039240-49039241	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182165572	chr13:49039289-49039290	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137853293	chr13:49039374-49039375	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187912365	chr13:49039407-49039408	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374523971	chr13:49039408-49039409	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375751988	chr13:49039470-49039471	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370088029	chr13:49039478-49039479	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368413787	chr13:49039479-49039480	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569423344	chr13:49039558-49039559	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573272684	chr13:49039569-49039570	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111765507	chr13:49039589-49039590	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377756250	chr13:49039615-49039616	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192127518	chr13:49039633-49039634	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183611965	chr13:49039656-49039657	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528412825	chr13:49039690-49039691	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576719420	chr13:49039708-49039709	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung adenocarcinoma	21151896	CNVD
Breast cancer	21518781	CNVD
Mantle cell lymphoma	21518781	CNVD
Ovarian cancer	21518781	CNVD
Retinoblastoma	21518781	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Chronic myeloid leukemia	21384125	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Autism	22495309	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49017400-49062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:49018000-49062400	Weak transcription	Fetal Brain Male	brain
3	chr13:49020800-49062000	Weak transcription	Fetal Kidney	kidney
4	chr13:49021200-49058600	Weak transcription	Hela-S3	cervix
5	chr13:49023800-49061000	Weak transcription	Small Intestine	intestine
6	chr13:49023800-49073800	Weak transcription	NH-A	brain
7	chr13:49024000-49059000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:49025600-49041200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:49025600-49056800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:49025600-49066200	Weak transcription	Psoas Muscle	Psoas
11	chr13:49026600-49039400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:49026800-49039400	Strong transcription	Dnd41	blood
13	chr13:49026800-49039600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr13:49027000-49039800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr13:49027200-49039200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:49027200-49039600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:49027200-49039800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:49027400-49039800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:49027600-49039800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:49027600-49049200	Weak transcription	A549	lung
21	chr13:49027800-49039200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:49027800-49043000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:49028000-49039200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:49028600-49039800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr13:49029000-49038600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:49029000-49038600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:49029000-49046000	Weak transcription	HSMMtube	muscle
29	chr13:49029200-49038800	Weak transcription	Osteobl	bone
30	chr13:49029200-49062000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:49029400-49052400	Weak transcription	K562	blood
32	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr13:49030800-49038800	Weak transcription	HUVEC	blood vessel
34	chr13:49031000-49039600	Strong transcription	Fetal Thymus	thymus
35	chr13:49031600-49038600	Weak transcription	GM12878-XiMat	blood
36	chr13:49031600-49049600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr13:49031600-49055800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:49031600-49066200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr13:49031800-49041200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr13:49031800-49045800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr13:49031800-49052000	Weak transcription	HepG2	liver
42	chr13:49031800-49052600	Weak transcription	Placenta	Placenta
43	chr13:49031800-49059200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:49031800-49060200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:49031800-49060600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr13:49031800-49065400	Weak transcription	Brain Substantia Nigra	brain
47	chr13:49032000-49050800	Weak transcription	Brain Hippocampus Middle	brain
48	chr13:49032000-49065600	Weak transcription	Brain Anterior Caudate	brain
49	chr13:49032000-49066200	Weak transcription	Colonic Mucosa	Colon
50	chr13:49032200-49053400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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