Variant report

Variant	esv3316750
Chromosome Location	chr18:39585549-39586411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:39559615..39562212-chr18:39583833..39587722,4	K562	blood:
2	chr18:39577574..39581097-chr18:39583166..39586037,3	K562	blood:
3	chr18:39581260..39583124-chr18:39585047..39587391,2	MCF-7	breast:
4	chr17:1673774..1676553-chr18:39584239..39587083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132386	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16975527	chr18:39585602-39585603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542473901	chr18:39585622-39585623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557390541	chr18:39585623-39585624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575546185	chr18:39585661-39585662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188180318	chr18:39585675-39585676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564559873	chr18:39585704-39585705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141968957	chr18:39585713-39585714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150817160	chr18:39585759-39585760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139307946	chr18:39585778-39585779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555062411	chr18:39585813-39585814	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149577747	chr18:39585834-39585835	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548420444	chr18:39585874-39585875	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569862082	chr18:39585895-39585896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566824994	chr18:39585952-39585953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144280922	chr18:39586005-39586006	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570190171	chr18:39586026-39586027	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534445330	chr18:39586058-39586059	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140537718	chr18:39586085-39586086	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568610554	chr18:39586192-39586193	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535672909	chr18:39586253-39586254	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7230883	chr18:39586259-39586260	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111854331	chr18:39586372-39586373	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs674380	chr18:39586375-39586376	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201957981	chr18:39586390-39586391	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113747403	chr18:39586392-39586393	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144393994	chr18:39586409-39586410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:39558200-39594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:39558200-39603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr18:39562800-39585600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:39564200-39586400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:39564600-39586600	Strong transcription	Primary B cells from cord blood	blood
9	chr18:39564600-39606400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:39565000-39597200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:39567000-39587200	Strong transcription	Liver	Liver
12	chr18:39568000-39588400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr18:39568000-39588600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr18:39568000-39588800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:39569200-39586400	Strong transcription	Dnd41	blood
16	chr18:39570800-39587200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
18	chr18:39573200-39585800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr18:39573200-39588000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:39573200-39588200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:39573200-39592000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr18:39573400-39586400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:39573400-39586600	Strong transcription	Adipose Nuclei	Adipose
24	chr18:39573400-39587200	Strong transcription	Fetal Intestine Large	intestine
25	chr18:39573400-39592200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:39573600-39587400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr18:39573800-39588600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr18:39574800-39589600	Strong transcription	GM12878-XiMat	blood
29	chr18:39574800-39603600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr18:39575200-39586400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr18:39575400-39586600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr18:39575600-39586800	Strong transcription	Primary T cells from cord blood	blood
33	chr18:39577200-39603400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr18:39577400-39588400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr18:39577400-39610000	Weak transcription	Fetal Brain Male	brain
36	chr18:39578000-39587000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:39578000-39595400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr18:39578400-39586400	Strong transcription	HSMM	muscle
39	chr18:39578400-39588000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:39578400-39591800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
42	chr18:39578600-39601800	Weak transcription	A549	lung
43	chr18:39579400-39586600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr18:39579400-39587000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:39580200-39587200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:39580400-39586000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr18:39580400-39586000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr18:39580400-39586800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr18:39580800-39587200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:39580800-39589000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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