Variant report

Variant	nsv516645
Chromosome Location	chr18:9177972-9178306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr18:9177768-9178002	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr18:9177691-9178013	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr18:9178181-9178206	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9177075..9179067-chr18:9181095..9183827,3	K562	blood:
2	chr18:9175098..9178757-chr18:9180431..9183034,3	K562	blood:

Variant related genes	Relation type
ANKRD12	TF binding region
ENSG00000101745	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7506347	chr18:9177972-9177973	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138857666	chr18:9178010-9178011	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560780015	chr18:9178072-9178073	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34718247	chr18:9178075-9178076	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560422357	chr18:9178096-9178097	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532740998	chr18:9178099-9178100	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550980269	chr18:9178104-9178105	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550551554	chr18:9178154-9178155	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568452650	chr18:9178186-9178187	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527624251	chr18:9178188-9178189	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549149745	chr18:9178242-9178243	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567306854	chr18:9178284-9178285	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7238828	chr18:9178306-9178307	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:105 , 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	chr18:9171600-9180800	Weak transcription	NHDF-Ad	bronchial
12	chr18:9172000-9182200	Weak transcription	Fetal Lung	lung
13	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
14	chr18:9172200-9185000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:9172400-9187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:9172600-9182200	Weak transcription	Dnd41	blood
17	chr18:9173000-9208400	Weak transcription	NHLF	lung
18	chr18:9173200-9182000	Weak transcription	Fetal Intestine Large	intestine
19	chr18:9174000-9178400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr18:9174000-9182800	Weak transcription	Osteobl	bone
21	chr18:9174200-9191800	Weak transcription	Fetal Stomach	stomach
22	chr18:9174200-9192000	Weak transcription	HMEC	breast
23	chr18:9174400-9179200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:9174400-9180000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:9174400-9180800	Weak transcription	K562	blood
26	chr18:9174400-9181000	Weak transcription	NHEK	skin
27	chr18:9174400-9182800	Weak transcription	HSMM	muscle
28	chr18:9174400-9183800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:9174400-9184000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr18:9174400-9191800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:9174600-9180800	Weak transcription	Brain Angular Gyrus	brain
32	chr18:9174600-9183000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:9174600-9183800	Weak transcription	Primary B cells from cord blood	blood
34	chr18:9174600-9184000	Weak transcription	Placenta	Placenta
35	chr18:9174600-9184400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:9174600-9184600	Weak transcription	Adipose Nuclei	Adipose
37	chr18:9174600-9185000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr18:9174600-9188000	Weak transcription	Ovary	ovary
39	chr18:9174600-9188000	Weak transcription	HSMMtube	muscle
40	chr18:9174600-9188200	Weak transcription	Fetal Thymus	thymus
41	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
42	chr18:9174800-9180000	Weak transcription	Brain Substantia Nigra	brain
43	chr18:9174800-9180200	Weak transcription	Brain Anterior Caudate	brain
44	chr18:9174800-9183200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:9174800-9184400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr18:9174800-9184600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr18:9174800-9184600	Weak transcription	Gastric	stomach
48	chr18:9174800-9187000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr18:9174800-9187000	Weak transcription	Esophagus	oesophagus
50	chr18:9174800-9187000	Weak transcription	Fetal Muscle Trunk	muscle

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