Variant report

Variant	esv6684
Chromosome Location	chr10:43900443-43900657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43857152..43860399-chr10:43897567..43900656,3	MCF-7	breast:
2	chr10:43899308..43901344-chr10:43930601..43933221,2	MCF-7	breast:
3	chr10:43899870..43905980-chr10:43953401..43957689,7	MCF-7	breast:
4	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
5	chr10:43853717..43856256-chr10:43898342..43901234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252532	chromatin interactions
ENSG00000243660	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574537443	chr10:43900449-43900450	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs78947383	chr10:43900454-43900455	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs370629232	chr10:43900466-43900467	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527536324	chr10:43900496-43900497	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184181939	chr10:43900497-43900498	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368561284	chr10:43900513-43900514	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572269678	chr10:43900543-43900544	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11238536	chr10:43900561-43900562	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs564554752	chr10:43900585-43900586	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576859975	chr10:43900611-43900612	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531825670	chr10:43900625-43900626	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43893200-43901600	Weak transcription	HSMMtube	muscle
2	chr10:43893400-43901400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:43893600-43901200	Weak transcription	Brain Angular Gyrus	brain
4	chr10:43893600-43902200	Weak transcription	Aorta	Aorta
5	chr10:43894000-43901200	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:43894000-43901200	Genic enhancers	Fetal Intestine Small	intestine
7	chr10:43894000-43901400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:43894200-43901200	Weak transcription	Brain Anterior Caudate	brain
9	chr10:43894200-43901400	Weak transcription	Fetal Brain Male	brain
10	chr10:43894400-43901200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr10:43894400-43901200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr10:43894400-43901600	Weak transcription	Brain Germinal Matrix	brain
13	chr10:43894800-43901400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:43894800-43901600	Weak transcription	Fetal Brain Female	brain
15	chr10:43895000-43901200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:43895000-43901200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:43895200-43901200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:43895200-43901600	Weak transcription	Fetal Kidney	kidney
19	chr10:43895600-43900800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:43896600-43901200	Enhancers	Psoas Muscle	Psoas
21	chr10:43896800-43901400	Enhancers	Stomach Mucosa	stomach
22	chr10:43897000-43901400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr10:43897000-43902400	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr10:43897400-43901400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr10:43897400-43901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:43898000-43900600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr10:43898000-43900800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr10:43898000-43901400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr10:43898200-43901000	Weak transcription	Fetal Heart	heart
30	chr10:43898400-43900800	Transcr. at gene 5' and 3'	Hela-S3	cervix
31	chr10:43898400-43901200	Enhancers	Colonic Mucosa	Colon
32	chr10:43898600-43900600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr10:43898600-43900600	Genic enhancers	Fetal Intestine Large	intestine
34	chr10:43898600-43901200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:43898600-43901400	Enhancers	Placenta	Placenta
36	chr10:43898800-43900600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:43898800-43901400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:43899000-43900600	Enhancers	Left Ventricle	heart
39	chr10:43899200-43901200	Enhancers	Osteobl	bone
40	chr10:43899200-43901400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr10:43899200-43901400	Enhancers	Adipose Nuclei	Adipose
42	chr10:43899200-43902000	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr10:43899400-43900600	Genic enhancers	HSMM	muscle
44	chr10:43899400-43900800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr10:43899400-43900800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:43899400-43900800	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr10:43899400-43901000	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:43899400-43901200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:43899400-43901200	Weak transcription	Brain Substantia Nigra	brain
50	chr10:43899400-43901200	Enhancers	HUVEC	blood vessel

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