Variant report

Variant	nsv121200
Chromosome Location	chr18:220444-220445
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	POLR2A	chr18:219897-220734	K562	blood:	n/a	n/a
2	POLR2A	chr18:220229-220554	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:219579..224693-chr18:231367..234811,5	K562	blood:

Variant related genes	Relation type
THOC1	TF binding region

Extended variants
information (count: 0)
Associated
traits (count: 61 )

No data

Variant related diseases (count:61)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:193400-227000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr18:195200-231200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr18:195400-220600	Strong transcription	Dnd41	blood
4	chr18:195400-228000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:195400-233000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:199800-251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr18:206000-220800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:206400-222200	Weak transcription	Fetal Brain Male	brain
9	chr18:208800-227200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:209000-220800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:209200-220600	Strong transcription	Adipose Nuclei	Adipose
12	chr18:209200-228200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr18:209400-230000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:209400-230000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:210200-228000	Strong transcription	Osteobl	bone
16	chr18:210400-224000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:210800-225400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr18:212000-256400	Weak transcription	Gastric	stomach
19	chr18:214400-251600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:214400-252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr18:215800-244000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr18:217000-223800	Weak transcription	Brain Substantia Nigra	brain
23	chr18:217200-247000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr18:217800-221000	ZNF genes & repeats	GM12878-XiMat	blood
25	chr18:217800-221200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr18:218000-222600	Weak transcription	Right Ventricle	heart
27	chr18:218000-229400	Weak transcription	Fetal Intestine Small	intestine
28	chr18:218000-267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:218200-221200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr18:218200-222400	Weak transcription	Hela-S3	cervix
31	chr18:218200-245400	Weak transcription	Aorta	Aorta
32	chr18:218400-223000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:218400-245600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr18:218600-222200	Weak transcription	NHDF-Ad	bronchial
35	chr18:218600-222400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:218600-222400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr18:218600-222400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:218600-222400	Weak transcription	HSMMtube	muscle
39	chr18:218600-222600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:218600-222600	Weak transcription	Left Ventricle	heart
41	chr18:218600-222800	Weak transcription	NHLF	lung
42	chr18:218600-223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr18:218600-223800	Weak transcription	Ovary	ovary
44	chr18:218600-226000	Weak transcription	Thymus	Thymus
45	chr18:218600-226200	Weak transcription	Brain Germinal Matrix	brain
46	chr18:218600-226200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr18:218600-227600	Weak transcription	Fetal Stomach	stomach
48	chr18:218600-227600	Weak transcription	Lung	lung
49	chr18:218600-240800	Weak transcription	Spleen	Spleen
50	chr18:218600-244800	Weak transcription	Psoas Muscle	Psoas

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