Variant report

Variant	esv3411757
Chromosome Location	chr10:27460240-27460401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27441763..27444260-chr10:27460197..27462623,2	MCF-7	breast:
2	chr10:27459265..27462197-chr10:27529566..27532512,2	K562	blood:
3	chr10:27443053..27445266-chr10:27460077..27462775,2	K562	blood:

Variant related genes	Relation type
ENSG00000120539	chromatin interactions
ENSG00000107897	chromatin interactions
ENSG00000262412	chromatin interactions
ENSG00000136758	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7897241	chr10:27460302-27460303	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547520011	chr10:27460333-27460334	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs377060464	chr10:27460340-27460341	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs71386919	chr10:27460370-27460371	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs201609793	chr10:27460380-27460381	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs570579731	chr10:27460392-27460393	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27445000-27486200	Weak transcription	Fetal Heart	heart
2	chr10:27445400-27490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:27445600-27470800	Weak transcription	Psoas Muscle	Psoas
4	chr10:27446400-27476200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:27446400-27476400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:27446400-27490800	Weak transcription	Fetal Brain Male	brain
7	chr10:27446400-27499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:27446400-27508400	Weak transcription	Small Intestine	intestine
9	chr10:27446600-27476000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:27446600-27477200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:27447000-27460400	Strong transcription	Placenta	Placenta
12	chr10:27447000-27476600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:27447000-27477000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:27447000-27477800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:27447200-27461000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr10:27447200-27461000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:27447200-27476200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:27447200-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:27447200-27478000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr10:27447200-27478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:27447400-27460600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:27447400-27460800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:27447400-27464000	Weak transcription	Stomach Mucosa	stomach
24	chr10:27447400-27464200	Strong transcription	Fetal Thymus	thymus
25	chr10:27447400-27476600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:27447400-27477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:27447400-27478200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr10:27447600-27460800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:27448200-27476000	Strong transcription	Dnd41	blood
30	chr10:27449400-27472800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:27449600-27487200	Weak transcription	Colon Smooth Muscle	Colon
32	chr10:27450200-27470600	Strong transcription	A549	lung
33	chr10:27452400-27467200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr10:27453000-27487000	Weak transcription	Spleen	Spleen
35	chr10:27453200-27460800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:27454600-27462000	Weak transcription	NHEK	skin
37	chr10:27454600-27463400	Weak transcription	HSMMtube	muscle
38	chr10:27454800-27469000	Weak transcription	Gastric	stomach
39	chr10:27454800-27473000	Weak transcription	Brain Anterior Caudate	brain
40	chr10:27454800-27473800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr10:27454800-27481200	Weak transcription	Brain Substantia Nigra	brain
42	chr10:27454800-27487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr10:27455000-27478400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:27455000-27494600	Weak transcription	Aorta	Aorta
45	chr10:27455000-27495200	Weak transcription	Right Ventricle	heart
46	chr10:27455200-27466000	Weak transcription	Fetal Kidney	kidney
47	chr10:27455200-27472600	Weak transcription	Brain Hippocampus Middle	brain
48	chr10:27455200-27473600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:27455200-27475000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr10:27455400-27492200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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