Variant report

Variant	esv3410412
Chromosome Location	chr18:12641443-12641900
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	chr18:12639720..12643637-chr18:12655833..12659154,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134278	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000215527	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139497579	chr18:12641482-12641483	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs62095968	chr18:12641487-12641488	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs568448854	chr18:12641518-12641519	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535820885	chr18:12641526-12641527	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs28666956	chr18:12641565-12641566	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575658762	chr18:12641592-12641593	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs367871387	chr18:12641609-12641610	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs545988848	chr18:12641615-12641616	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs188308517	chr18:12641670-12641671	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs181123149	chr18:12641706-12641707	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs540470574	chr18:12641734-12641735	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs561944270	chr18:12641751-12641752	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs529231283	chr18:12641787-12641788	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184944446	chr18:12641804-12641805	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576748359	chr18:12641832-12641833	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs145475969	chr18:12641859-12641860	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs190232905	chr18:12641866-12641867	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs551187928	chr18:12641867-12641868	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs566274144	chr18:12641871-12641872	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
2	chr18:12616400-12644800	Weak transcription	Brain Hippocampus Middle	brain
3	chr18:12616600-12645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:12621200-12645200	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:12622800-12645000	Weak transcription	Brain Angular Gyrus	brain
6	chr18:12630400-12645400	Weak transcription	Ovary	ovary
7	chr18:12631000-12645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr18:12631000-12645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:12631200-12647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:12631400-12645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:12633600-12655800	Weak transcription	Fetal Stomach	stomach
12	chr18:12635000-12645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:12635200-12645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:12637800-12643400	Weak transcription	Psoas Muscle	Psoas
15	chr18:12637800-12645400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:12637800-12652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:12638400-12642200	Weak transcription	Left Ventricle	heart
18	chr18:12638600-12643200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:12638800-12645000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:12638800-12645200	Weak transcription	Brain Anterior Caudate	brain
21	chr18:12639000-12644800	Weak transcription	Fetal Brain Female	brain
22	chr18:12639000-12645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr18:12639600-12645800	Weak transcription	Esophagus	oesophagus
24	chr18:12640400-12641600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:12640400-12652000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr18:12640800-12642200	Weak transcription	Liver	Liver
27	chr18:12640800-12642600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:12640800-12643200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:12640800-12645000	Weak transcription	Brain Substantia Nigra	brain
30	chr18:12641000-12641800	Enhancers	HUVEC	blood vessel
31	chr18:12641000-12642000	Enhancers	Osteobl	bone
32	chr18:12641000-12642400	Weak transcription	Fetal Heart	heart
33	chr18:12641000-12642600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:12641000-12642600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:12641000-12644000	Weak transcription	Fetal Brain Male	brain
36	chr18:12641000-12644800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:12641000-12645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:12641000-12645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr18:12641000-12645200	Weak transcription	Pancreas	Pancrea
40	chr18:12641000-12645400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr18:12641000-12645400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:12641000-12645800	Weak transcription	K562	blood
43	chr18:12641000-12646000	Weak transcription	Right Ventricle	heart
44	chr18:12641000-12648200	Weak transcription	Hela-S3	cervix
45	chr18:12641200-12641600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr18:12641200-12641800	Enhancers	HMEC	breast
47	chr18:12641200-12642200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:12641200-12642200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr18:12641200-12642400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:12641200-12642600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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