Variant report

Variant	esv1918094
Chromosome Location	chr2:133036892-133036893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133034522..133037379-chr6:119557092..119560188,5	MCF-7	breast:
2	chr2:133036040..133038933-chr8:70602384..70604113,2	K562	blood:
3	chr2:133034621..133037562-chrX:108296217..108297769,2	MCF-7	breast:
4	chr1:91852393..91852995-chr2:133036535..133037053,3	MCF-7	breast:
5	chr2:133036654..133038926-chr2:230045488..230047023,2	K562	blood:
6	chr1:91851583..91854616-chr2:133036036..133038051,4	MCF-7	breast:
7	chr19:24183267..24184972-chr2:133036687..133040151,3	K562	blood:
8	chr2:133036040..133038933-chr8:70602384..70604113,3	K562	blood:
9	chr1:108113122..108115024-chr2:133036001..133038158,2	K562	blood:
10	chr18:13749839..13751339-chr2:133036649..133038165,2	MCF-7	breast:
11	chr1:91852368..91853074-chr2:133036534..133037037,3	MCF-7	breast:
12	chr2:133036012..133038474-chr20:26188735..26191734,4	K562	blood:
13	chr17:31149835..31151349-chr2:133035877..133037511,2	MCF-7	breast:
14	chr2:133023726..133025567-chr2:133036787..133038950,2	K562	blood:
15	chr16:33961306..33965571-chr2:133034531..133038474,4	K562	blood:
16	chr2:133034643..133038120-chr20:26188506..26190514,4	MCF-7	breast:
17	chr17:31149756..31151304-chr2:133036010..133037634,2	MCF-7	breast:
18	chr1:91852396..91852987-chr2:133036550..133037057,2	MCF-7	breast:
19	chr2:133036060..133038050-chrX:108295932..108297713,2	K562	blood:
20	chr1:91851302..91853083-chr2:133035035..133039055,6	K562	blood:
21	chr2:133034652..133037532-chr8:82753267..82756202,5	MCF-7	breast:
22	chr2:133034513..133038165-chr21:9824366..9827688,5	K562	blood:
23	chr2:133011942..133013448-chr2:133036648..133038896,2	K562	blood:
24	chr17:31149448..31151294-chr2:133036023..133039051,5	K562	blood:
25	chr2:133035583..133038926-chr2:230044088..230047023,3	K562	blood:
26	chr1:156186275..156187889-chr2:133036670..133039645,2	K562	blood:
27	chr2:133036134..133038165-chr21:9825266..9827266,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256642	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000104497	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150434242	chr2:133036892-133036893	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133018600-133039200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:133018600-133039200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr2:133018600-133039400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr2:133022200-133039200	ZNF genes & repeats	Colonic Mucosa	Colon
5	chr2:133022400-133039200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr2:133022800-133039400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
7	chr2:133022800-133039400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr2:133023000-133037200	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr2:133025000-133039200	ZNF genes & repeats	Dnd41	blood
10	chr2:133025000-133039400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:133025800-133039400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr2:133027200-133040600	ZNF genes & repeats	Fetal Stomach	stomach
13	chr2:133028200-133037000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:133030800-133039400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr2:133031400-133039200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr2:133033600-133039200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr2:133033600-133039400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:133033600-133039400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:133035000-133038200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:133035000-133038200	Weak transcription	Fetal Lung	lung
21	chr2:133035200-133039200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:133035400-133037200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr2:133035800-133037200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr2:133035800-133037200	ZNF genes & repeats	NHLF	lung
25	chr2:133035800-133039200	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr2:133035800-133039200	ZNF genes & repeats	Esophagus	oesophagus
27	chr2:133036200-133039000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:133036400-133039200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr2:133036600-133038000	Weak transcription	Right Atrium	heart
30	chr2:133036800-133038000	Weak transcription	Primary T cells from cord blood	blood
31	chr2:133036800-133038000	Weak transcription	Left Ventricle	heart
32	chr2:133036800-133038200	Weak transcription	Fetal Kidney	kidney

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