Variant report

Variant	esv2578354
Chromosome Location	chrX:56759406-56759407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:56754417..56757216-chrX:56757629..56759617,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204272	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 41 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201981508	chrX:56759406-56759407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs66887234	chrX:56759407-56759408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56756000-56780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chrX:56757000-56764600	Weak transcription	Pancreas	Pancrea
3	chrX:56757000-56764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chrX:56757000-56765000	Weak transcription	Placenta	Placenta
5	chrX:56757000-56766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chrX:56757200-56759800	Weak transcription	Osteobl	bone
7	chrX:56757200-56761000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chrX:56757200-56764800	Weak transcription	Liver	Liver
9	chrX:56757200-56764800	Weak transcription	Fetal Intestine Small	intestine
10	chrX:56757200-56764800	Weak transcription	Left Ventricle	heart
11	chrX:56757200-56765000	Weak transcription	Brain Angular Gyrus	brain
12	chrX:56757200-56765000	Weak transcription	HSMMtube	muscle
13	chrX:56757200-56766600	Weak transcription	Thymus	Thymus
14	chrX:56757200-56769200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chrX:56757200-56773800	Weak transcription	HSMM	muscle
16	chrX:56757200-56775600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chrX:56757200-56777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chrX:56757400-56761200	Weak transcription	Duodenum Mucosa	Duodenum
19	chrX:56757400-56764800	Weak transcription	Brain Substantia Nigra	brain
20	chrX:56757400-56768000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chrX:56757400-56771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chrX:56757400-56779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chrX:56757400-56788000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chrX:56757400-56791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chrX:56757400-56793200	Weak transcription	NH-A	brain
26	chrX:56757400-56793400	Weak transcription	Fetal Intestine Large	intestine
27	chrX:56757600-56759800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chrX:56757600-56760200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chrX:56757600-56760200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chrX:56757600-56762400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chrX:56757600-56762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chrX:56757600-56763400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chrX:56757600-56764200	Weak transcription	Primary hematopoietic stem cells	blood
34	chrX:56757600-56764600	Weak transcription	HMEC	breast
35	chrX:56757600-56765000	Weak transcription	Brain Cingulate Gyrus	brain
36	chrX:56757600-56766600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chrX:56757600-56767600	Weak transcription	A549	lung
38	chrX:56757600-56767800	Weak transcription	Primary B cells from cord blood	blood
39	chrX:56757600-56779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chrX:56757600-56800000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chrX:56757800-56759800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chrX:56757800-56759800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chrX:56757800-56760200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chrX:56757800-56760400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chrX:56757800-56760600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chrX:56757800-56760600	Weak transcription	Hela-S3	cervix
47	chrX:56757800-56760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chrX:56757800-56761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chrX:56757800-56761800	Weak transcription	Primary B cells from peripheral blood	blood
50	chrX:56757800-56764600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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