Variant report

Variant	nsv1067550
Chromosome Location	chr18:25434275-25466837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:25428285..25431235-chr18:25432716..25435281,2	MCF-7	breast:
2	18:25465234-25466367..18:25739208-25741005	GM12878	blood:
3	chr18:25359374..25361805-chr18:25445268..25447379,2	K562	blood:

Variant related genes	Relation type
ENSG00000170558	chromatin interactions

Extended variants
information (count: 521 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180722716	chr18:25436410-25436411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185864133	chr18:25436419-25436420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539605324	chr18:25436457-25436458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557924332	chr18:25436458-25436459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191213296	chr18:25436463-25436464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182947365	chr18:25436466-25436467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111219355	chr18:25436519-25436520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186593119	chr18:25436535-25436536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190446673	chr18:25436543-25436544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183098172	chr18:25436566-25436567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187745070	chr18:25436574-25436575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192464426	chr18:25436606-25436607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184170557	chr18:25436636-25436637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187591139	chr18:25436637-25436638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192802110	chr18:25436667-25436668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184594879	chr18:25436668-25436669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28892988	chr18:25436670-25436671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571323426	chr18:25436693-25436694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555898673	chr18:25436717-25436718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574345328	chr18:25436718-25436719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28761024	chr18:25436748-25436749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541760751	chr18:25436749-25436750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560354895	chr18:25436776-25436777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28798138	chr18:25436779-25436780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546066262	chr18:25436780-25436781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564251974	chr18:25436797-25436798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147047355	chr18:25436801-25436802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12955722	chr18:25436810-25436811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546649829	chr18:25436815-25436816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372395323	chr18:25436822-25436823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529243203	chr18:25436844-25436845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570970732	chr18:25436859-25436860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191972549	chr18:25436887-25436888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11874907	chr18:25436897-25436898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184395011	chr18:25436916-25436917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138295857	chr18:25436918-25436919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551590945	chr18:25436929-25436930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569879372	chr18:25436965-25436966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114590326	chr18:25436972-25436973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189074874	chr18:25436974-25436975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567972021	chr18:25436981-25436982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535474192	chr18:25436991-25436992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115994868	chr18:25436997-25436998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572396680	chr18:25437006-25437007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546105231	chr18:25437039-25437040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367955668	chr18:25437065-25437066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181860616	chr18:25437070-25437071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576276296	chr18:25437075-25437076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143804249	chr18:25437105-25437106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112645596	chr18:25437112-25437113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	19651600	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25436400-25440000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:25437600-25438800	Enhancers	Fetal Heart	heart
3	chr18:25438000-25438200	Enhancers	Left Ventricle	heart
4	chr18:25438800-25439000	Flanking Active TSS	Fetal Heart	heart
5	chr18:25439000-25439200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:25439000-25439200	Enhancers	Fetal Heart	heart
7	chr18:25439200-25439400	Flanking Active TSS	Fetal Heart	heart
8	chr18:25439200-25440000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:25439200-25440600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:25439200-25441400	Enhancers	HMEC	breast
11	chr18:25439400-25440800	Enhancers	Dnd41	blood
12	chr18:25439400-25441200	Enhancers	NHEK	skin
13	chr18:25439400-25442200	Enhancers	Fetal Heart	heart
14	chr18:25439600-25440200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:25439800-25440200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr18:25439800-25441200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:25440000-25440200	Enhancers	Gastric	stomach
20	chr18:25440000-25440200	Enhancers	HSMM	muscle
21	chr18:25440000-25441000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:25440000-25441000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:25440000-25441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr18:25440000-25441200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr18:25440000-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:25440000-25441200	Enhancers	Left Ventricle	heart
27	chr18:25440000-25441600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:25440000-25441800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:25440000-25441800	Enhancers	Fetal Muscle Leg	muscle
30	chr18:25440000-25441800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr18:25440200-25440400	Flanking Active TSS	HSMM	muscle
32	chr18:25440200-25440600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr18:25440200-25440600	Enhancers	HepG2	liver
34	chr18:25440200-25440600	Enhancers	HSMMtube	muscle
35	chr18:25440200-25444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:25440400-25440800	Active TSS	HSMM	muscle
37	chr18:25440600-25441000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:25440600-25441000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:25440600-25441000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr18:25440600-25441000	Active TSS	HSMMtube	muscle
41	chr18:25440600-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr18:25440600-25441600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr18:25440600-25441800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr18:25440600-25442400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr18:25440800-25441000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr18:25440800-25441000	Enhancers	Gastric	stomach
47	chr18:25440800-25441200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:25440800-25441200	Enhancers	Fetal Muscle Trunk	muscle
49	chr18:25440800-25441200	Flanking Active TSS	Dnd41	blood
50	chr18:25440800-25441200	Active TSS	HepG2	liver

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