Variant report

Variant	nsv512512
Chromosome Location	chr18:206610-209267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:204809..206708-chr18:226314..228086,2	K562	blood:
2	chr18:199995..202051-chr18:204177..206910,3	MCF-7	breast:
3	chr18:204844..208179-chr18:208509..211348,3	K562	blood:
4	chr18:208647..210877-chr18:212851..214807,2	MCF-7	breast:
5	chr18:191278..194179-chr18:207630..209643,2	K562	blood:
6	chr18:204844..208179-chr18:208509..211348,3	K562	blood:
7	chr18:204844..208399-chr18:208509..211522,4	K562	blood:
8	chr18:204844..208399-chr18:208509..211522,4	K562	blood:

Variant related genes	Relation type
ENSG00000079134	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75525833	chr18:206700-206701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565464164	chr18:206734-206735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529083775	chr18:206771-206772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547544159	chr18:206782-206783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566870518	chr18:206815-206816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536260304	chr18:206816-206817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184993102	chr18:206828-206829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534287138	chr18:206859-206860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572981	chr18:206874-206875	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs573560991	chr18:206905-206906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141056357	chr18:206915-206916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188286014	chr18:207015-207016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556440075	chr18:207040-207041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575047903	chr18:207099-207100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548063351	chr18:207147-207148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193001656	chr18:207190-207191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183946089	chr18:207198-207199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374205732	chr18:207218-207219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200851217	chr18:207245-207246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374497001	chr18:207248-207249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188377009	chr18:207334-207335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140711496	chr18:207361-207362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9965109	chr18:207370-207371	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540832158	chr18:207515-207516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115627554	chr18:207573-207574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529670614	chr18:207703-207704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561858432	chr18:207837-207838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529154231	chr18:207883-207884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374401278	chr18:207916-207917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180839084	chr18:207939-207940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577049852	chr18:207998-207999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559493888	chr18:208050-208051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34124868	chr18:208073-208074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183533142	chr18:208077-208078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200942846	chr18:208087-208088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202224437	chr18:208110-208111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190710567	chr18:208208-208209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545447	chr18:208222-208223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs182041948	chr18:208286-208287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374361299	chr18:208303-208304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550115220	chr18:208310-208311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138148987	chr18:208314-208315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536124217	chr18:208343-208344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375312486	chr18:208380-208381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149551254	chr18:208392-208393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572591929	chr18:208432-208433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144293279	chr18:208445-208446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375219486	chr18:208480-208481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367938622	chr18:208485-208486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576180979	chr18:208486-208487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	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
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:160200-210800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:160200-218000	Weak transcription	Stomach Mucosa	stomach
3	chr18:160200-218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:178200-210800	Weak transcription	Pancreas	Pancrea
5	chr18:181000-210800	Weak transcription	Small Intestine	intestine
6	chr18:193200-218800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:193400-227000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr18:193800-219200	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr18:194800-207400	Strong transcription	Placenta	Placenta
10	chr18:194800-207600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr18:194800-207800	Strong transcription	Fetal Thymus	thymus
12	chr18:195000-207200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:195000-213400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr18:195200-207600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:195200-209400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:195200-231200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr18:195400-207200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr18:195400-207600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:195400-207600	Strong transcription	Fetal Muscle Leg	muscle
20	chr18:195400-207800	Strong transcription	GM12878-XiMat	blood
21	chr18:195400-208000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:195400-219000	Strong transcription	Primary T cells from cord blood	blood
23	chr18:195400-219000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:195400-219800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr18:195400-220600	Strong transcription	Dnd41	blood
26	chr18:195400-228000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr18:195400-233000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr18:195600-207800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:195600-207800	Strong transcription	Fetal Intestine Large	intestine
30	chr18:196400-207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:196400-208400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr18:196600-207000	Strong transcription	Adipose Nuclei	Adipose
33	chr18:196600-207000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:196600-207200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr18:196600-207600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr18:196600-207600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr18:196600-208200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr18:196600-208400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr18:196800-207000	Strong transcription	Liver	Liver
40	chr18:196800-207400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:197000-207600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:197000-212000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr18:197400-207000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr18:197400-210800	Weak transcription	Esophagus	oesophagus
45	chr18:198000-207400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:198200-207800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr18:199000-206800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr18:199400-207000	Strong transcription	A549	lung
49	chr18:199600-207800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr18:199600-207800	Strong transcription	Muscle Satellite Cultured Cells	--

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