Variant report

Variant	nsv960275
Chromosome Location	chr18:43795927-43796427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43793521..43796168-chr18:43800123..43802116,2	MCF-7	breast:
2	chr18:43792929..43795113-chr18:43795135..43797949,3	K562	blood:
3	chr18:43795518..43797206-chr18:43801637..43804077,2	K562	blood:
4	chr18:43793217..43797206-chr18:43801637..43804775,4	K562	blood:
5	chr18:43792629..43794429-chr18:43796211..43797949,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371163977	chr18:43795946-43795947	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185587005	chr18:43795976-43795977	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374734764	chr18:43795980-43795981	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61736697	chr18:43795986-43795987	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190299443	chr18:43795987-43795988	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373381018	chr18:43796009-43796010	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76028711	chr18:43796046-43796047	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574702877	chr18:43796064-43796065	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs201224326	chr18:43796078-43796079	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201155841	chr18:43796123-43796124	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200300496	chr18:43796134-43796135	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs199666003	chr18:43796179-43796180	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530516330	chr18:43796212-43796213	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202083909	chr18:43796214-43796215	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200250877	chr18:43796215-43796216	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377482148	chr18:43796216-43796217	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370639805	chr18:43796259-43796260	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62096535	chr18:43796277-43796278	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375420576	chr18:43796308-43796309	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377376829	chr18:43796323-43796324	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140926806	chr18:43796356-43796357	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199872298	chr18:43796367-43796368	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374499213	chr18:43796370-43796371	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201309213	chr18:43796401-43796402	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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	21297112	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
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43756800-43796000	Weak transcription	Esophagus	oesophagus
2	chr18:43761200-43796000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:43763400-43799200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr18:43763600-43796000	Weak transcription	Fetal Lung	lung
5	chr18:43769200-43802800	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:43770800-43796000	Weak transcription	Brain Substantia Nigra	brain
7	chr18:43772200-43796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr18:43776400-43802000	Weak transcription	Brain Germinal Matrix	brain
9	chr18:43777000-43812000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:43777800-43805000	Weak transcription	Fetal Intestine Small	intestine
11	chr18:43783600-43796000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr18:43784600-43802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:43784800-43796000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr18:43784800-43796000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:43784800-43796000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr18:43785200-43796000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:43785400-43796000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:43786800-43796000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:43789400-43796200	Weak transcription	A549	lung
20	chr18:43791400-43796000	Weak transcription	Left Ventricle	heart
21	chr18:43791600-43799600	Weak transcription	Psoas Muscle	Psoas
22	chr18:43791600-43804200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr18:43791800-43796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:43791800-43796000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr18:43791800-43796000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr18:43791800-43796000	Weak transcription	Pancreas	Pancrea
27	chr18:43791800-43798600	Weak transcription	K562	blood
28	chr18:43791800-43800000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:43792000-43796000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:43792200-43796000	Weak transcription	NHEK	skin
31	chr18:43792200-43814600	Weak transcription	Colon Smooth Muscle	Colon
32	chr18:43792400-43796000	Weak transcription	NH-A	brain
33	chr18:43792400-43796000	Weak transcription	Osteobl	bone
34	chr18:43792600-43796000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr18:43792600-43799800	Weak transcription	NHLF	lung
36	chr18:43792800-43799600	Weak transcription	NHDF-Ad	bronchial
37	chr18:43793400-43796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr18:43793400-43796000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:43794000-43796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:43794200-43796000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr18:43794400-43796000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr18:43794400-43796000	Weak transcription	Brain Angular Gyrus	brain
43	chr18:43794400-43800200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr18:43794400-43801600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr18:43794600-43796000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:43794600-43796200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr18:43794600-43796400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:43794600-43801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr18:43794800-43796400	Enhancers	Right Ventricle	heart
50	chr18:43794800-43797400	Weak transcription	Colonic Mucosa	Colon

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