Variant report

Variant	esv1479078
Chromosome Location	chr10:6258842-6258843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:6258783-6258965	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr10:6258673-6259703	A549	lung:	n/a	n/a
3	POLR2A	chr10:6258741-6259049	A549	lung:	n/a	n/a
4	POLR2A	chr10:6258706-6259574	A549	lung:	n/a	n/a
5	POLR2A	chr10:6258321-6260341	U87	brain:	n/a	n/a
6	POLR2A	chr10:6258742-6260277	U87	brain:	n/a	n/a
7	POLR2A	chr10:6254707-6260249	A549	lung:	n/a	n/a
8	POLR2A	chr10:6254765-6260349	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:6258761-6259067	A549	lung:	n/a	n/a
10	POLR2A	chr10:6258204-6259176	GM12891	blood:	n/a	n/a
11	TCF12	chr10:6258160-6258860	A549	lung:	n/a	chr10:6258834-6258844

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:6168287..6170696-chr10:6258777..6261462,2	MCF-7	breast:
2	chr10:6256631..6260538-chr10:6441320..6445135,3	MCF-7	breast:
3	chr10:6242739..6248482-chr10:6257769..6263853,7	MCF-7	breast:
4	chr10:6252635..6254396-chr10:6258797..6261104,2	MCF-7	breast:
5	chr10:6256425..6258946-chr10:6338199..6341080,3	MCF-7	breast:
6	chr10:6256967..6259883-chr10:6260923..6262810,2	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB3	TF binding region
ENSG00000170525	chromatin interactions
ENSG00000213994	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 57 )

No data

Variant related diseases (count:57)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6246000-6272200	Weak transcription	K562	blood
2	chr10:6247000-6280600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:6247200-6281000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:6253200-6278800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:6253400-6276600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:6253400-6276800	Strong transcription	Fetal Intestine Small	intestine
7	chr10:6253400-6278400	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:6253800-6269200	Weak transcription	Fetal Kidney	kidney
9	chr10:6253800-6281000	Weak transcription	Stomach Mucosa	stomach
10	chr10:6254000-6259600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:6254000-6273400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:6254200-6273800	Strong transcription	Spleen	Spleen
13	chr10:6254400-6279200	Strong transcription	Dnd41	blood
14	chr10:6254600-6260800	Weak transcription	NHDF-Ad	bronchial
15	chr10:6254600-6270000	Weak transcription	Right Atrium	heart
16	chr10:6254600-6270400	Weak transcription	Fetal Brain Male	brain
17	chr10:6254600-6275600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:6254600-6279200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:6254600-6280000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:6254800-6270400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:6254800-6277800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:6255000-6259000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:6255000-6261800	Strong transcription	Primary B cells from cord blood	blood
24	chr10:6255000-6279200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:6255000-6279200	Strong transcription	Fetal Stomach	stomach
26	chr10:6255200-6263800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr10:6255200-6270400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr10:6255200-6277000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:6255200-6277800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:6255200-6279200	Strong transcription	Primary T cells from cord blood	blood
31	chr10:6255200-6279200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:6255200-6279400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr10:6255400-6259200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr10:6255400-6259800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:6255400-6260800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:6255400-6260800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr10:6255400-6261400	Strong transcription	Colonic Mucosa	Colon
38	chr10:6255400-6266000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:6255400-6270200	Strong transcription	Fetal Lung	lung
40	chr10:6255400-6272200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr10:6255400-6272600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr10:6255400-6276600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:6255400-6276600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:6255400-6276600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr10:6255400-6276800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:6255400-6276800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:6255400-6276800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr10:6255400-6277400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:6255400-6278400	Strong transcription	Liver	Liver
50	chr10:6255400-6278600	Strong transcription	Primary monocytes fromperipheralblood	blood

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