Variant report

Variant	nsv131135
Chromosome Location	chr18:9175550-9176274
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	chr18:9175098..9178757-chr18:9180431..9183034,3	K562	blood:
2	chr18:9135268..9138206-chr18:9174153..9176625,2	K562	blood:

Variant related genes	Relation type
ENSG00000101745	chromatin interactions
ENSG00000266053	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7228910	chr18:9175566-9175567	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368292424	chr18:9175594-9175595	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552342883	chr18:9175595-9175596	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529573324	chr18:9175621-9175622	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550893605	chr18:9175661-9175662	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34568409	chr18:9175683-9175684	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534619564	chr18:9175718-9175719	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569478004	chr18:9175773-9175774	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564693794	chr18:9175779-9175780	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539657402	chr18:9175796-9175797	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552219270	chr18:9175860-9175861	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570575256	chr18:9175904-9175905	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191707671	chr18:9175937-9175938	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140464708	chr18:9175938-9175939	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201140574	chr18:9175946-9175947	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553030287	chr18:9176000-9176001	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181667580	chr18:9176013-9176014	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs528434088	chr18:9176017-9176018	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12958093	chr18:9176047-9176048	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148811603	chr18:9176071-9176072	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs80270780	chr18:9176078-9176079	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs73392354	chr18:9176116-9176117	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186663273	chr18:9176117-9176118	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567990705	chr18:9176120-9176121	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573036115	chr18:9176164-9176165	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145158195	chr18:9176211-9176212	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116984639	chr18:9176230-9176231	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529536756	chr18:9176233-9176234	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147580400	chr18:9176272-9176273	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570510387	chr18:9176274-9176275	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:9153600-9182400	Weak transcription	Liver	Liver
3	chr18:9153600-9185000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:9157400-9182400	Weak transcription	HepG2	liver
5	chr18:9162200-9187800	Weak transcription	Thymus	Thymus
6	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:9165600-9183000	Weak transcription	Primary T cells from cord blood	blood
8	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:9168400-9185600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr18:9170200-9181400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:9171400-9175600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr18:9171400-9176600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr18:9171600-9177800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr18:9171600-9180800	Weak transcription	NHDF-Ad	bronchial
15	chr18:9171800-9177200	Weak transcription	HUVEC	blood vessel
16	chr18:9172000-9182200	Weak transcription	Fetal Lung	lung
17	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
18	chr18:9172200-9185000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:9172400-9187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:9172600-9182200	Weak transcription	Dnd41	blood
21	chr18:9173000-9208400	Weak transcription	NHLF	lung
22	chr18:9173200-9182000	Weak transcription	Fetal Intestine Large	intestine
23	chr18:9173600-9176800	Enhancers	Left Ventricle	heart
24	chr18:9174000-9178400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr18:9174000-9182800	Weak transcription	Osteobl	bone
26	chr18:9174200-9191800	Weak transcription	Fetal Stomach	stomach
27	chr18:9174200-9192000	Weak transcription	HMEC	breast
28	chr18:9174400-9176200	Weak transcription	Small Intestine	intestine
29	chr18:9174400-9177000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr18:9174400-9179200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:9174400-9180000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:9174400-9180800	Weak transcription	K562	blood
33	chr18:9174400-9181000	Weak transcription	NHEK	skin
34	chr18:9174400-9182800	Weak transcription	HSMM	muscle
35	chr18:9174400-9183800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:9174400-9184000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr18:9174400-9191800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:9174600-9175800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr18:9174600-9176200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:9174600-9176200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr18:9174600-9176200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr18:9174600-9176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr18:9174600-9180800	Weak transcription	Brain Angular Gyrus	brain
44	chr18:9174600-9183000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:9174600-9183800	Weak transcription	Primary B cells from cord blood	blood
46	chr18:9174600-9184000	Weak transcription	Placenta	Placenta
47	chr18:9174600-9184400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:9174600-9184600	Weak transcription	Adipose Nuclei	Adipose
49	chr18:9174600-9185000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr18:9174600-9188000	Weak transcription	Ovary	ovary

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