Variant report

Variant	nsv960255
Chromosome Location	chr18:13062011-13066206
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	FOXA2	chr18:13063661-13063849	HepG2	liver:	n/a	n/a
2	POLR2A	chr18:13062875-13063115	K562	blood:	n/a	n/a
3	POLR2A	chr18:13065759-13066201	K562	blood:	n/a	n/a
4	POLR2A	chr18:13062000-13062191	K562	blood:	n/a	n/a
5	POLR2A	chr18:13064467-13064617	K562	blood:	n/a	n/a

Variant related genes	Relation type
CEP192	TF binding region

Extended variants
information (count: 149 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564581247	chr18:13062035-13062036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376925696	chr18:13062073-13062074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139305056	chr18:13062086-13062087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73419515	chr18:13062101-13062102	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534141856	chr18:13062105-13062106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79944409	chr18:13062134-13062135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567868818	chr18:13062171-13062172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538574704	chr18:13062182-13062183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556567924	chr18:13062196-13062197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556876733	chr18:13062211-13062212	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578093994	chr18:13062214-13062215	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79663535	chr18:13062228-13062229	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74767028	chr18:13062250-13062251	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554329979	chr18:13062267-13062268	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530593492	chr18:13062285-13062286	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186469750	chr18:13062380-13062381	Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16940084	chr18:13062413-13062414	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554570627	chr18:13062436-13062437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78914679	chr18:13062462-13062463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576148981	chr18:13062464-13062465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114433453	chr18:13062485-13062486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147242099	chr18:13062490-13062491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35231926	chr18:13062525-13062526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199886745	chr18:13062526-13062527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397698848	chr18:13062539-13062540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532002837	chr18:13062571-13062572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141051808	chr18:13062573-13062574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559034032	chr18:13062598-13062599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529750407	chr18:13062612-13062613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547978135	chr18:13062719-13062720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113952569	chr18:13062833-13062834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567887593	chr18:13062856-13062857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528495475	chr18:13062879-13062880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538036677	chr18:13062884-13062885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117556010	chr18:13062919-13062920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571938838	chr18:13062929-13062930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189796805	chr18:13062945-13062946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144949077	chr18:13062951-13062952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566181076	chr18:13062972-13062973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536798009	chr18:13062976-13062977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554751359	chr18:13063035-13063036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145843900	chr18:13063055-13063056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572179658	chr18:13063066-13063067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183129522	chr18:13063080-13063081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116164712	chr18:13063084-13063085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188110536	chr18:13063087-13063088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201633789	chr18:13063095-13063096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571808349	chr18:13063104-13063105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376524492	chr18:13063105-13063106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112307326	chr18:13063126-13063127	Weak transcription Strong transcription	n/a	n/a	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	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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13041600-13063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr18:13041800-13064400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr18:13043200-13077800	Strong transcription	Dnd41	blood
5	chr18:13045400-13063800	Strong transcription	Fetal Thymus	thymus
6	chr18:13045600-13062400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:13045600-13063200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:13045800-13062400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:13045800-13063800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr18:13046000-13062200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:13046000-13062200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:13046000-13062200	Strong transcription	Thymus	Thymus
13	chr18:13046000-13062400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:13046000-13062400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:13046000-13062400	Strong transcription	Fetal Intestine Large	intestine
16	chr18:13046000-13062400	Strong transcription	Fetal Muscle Leg	muscle
17	chr18:13046000-13062400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr18:13046000-13063400	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr18:13046000-13063800	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr18:13046000-13078600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:13046800-13062400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:13047200-13062200	Strong transcription	Liver	Liver
24	chr18:13048200-13095600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr18:13048600-13062200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:13049000-13070400	Weak transcription	Psoas Muscle	Psoas
27	chr18:13049800-13062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:13049800-13068000	Weak transcription	Small Intestine	intestine
29	chr18:13050600-13062600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:13050800-13062400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:13050800-13064800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:13050800-13070800	Weak transcription	Right Atrium	heart
33	chr18:13051200-13062400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr18:13051600-13063200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr18:13051800-13062600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr18:13051800-13063200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:13052000-13064200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr18:13052200-13062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr18:13052200-13062200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr18:13052200-13062400	Strong transcription	Primary T cells from cord blood	blood
41	chr18:13052200-13062400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr18:13052200-13062400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr18:13052200-13062400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:13052200-13078200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:13052400-13062200	Strong transcription	GM12878-XiMat	blood
46	chr18:13052600-13062400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr18:13052600-13064000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr18:13052600-13064200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr18:13052800-13062200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:13052800-13063800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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