Variant report

Variant	nsv960254
Chromosome Location	chr18:12448017-12448517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12431522..12433489-chr18:12448330..12450426,2	MCF-7	breast:
2	chr18:12448427..12450836-chr18:12453121..12454748,2	K562	blood:
3	chr18:12442306..12444131-chr18:12446769..12448348,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLMO1-1	chr18:12443295-12448204	ENSG00000267199.1

Variant related genes	Relation type
ENSG00000134278	chromatin interactions
ENSG00000267199	chromatin interactions
ENSG00000256786	chromatin interactions
ENSG00000267108	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555468323	chr18:12448022-12448023	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs371553125	chr18:12448081-12448082	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs138911825	chr18:12448144-12448145	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs556790931	chr18:12448199-12448200	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs189773334	chr18:12448226-12448227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371526355	chr18:12448234-12448235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545160656	chr18:12448255-12448256	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553452085	chr18:12448278-12448279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3935	chr18:12448430-12448431	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs73403708	chr18:12448443-12448444	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560705224	chr18:12448494-12448495	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs542471480	chr18:12448503-12448504	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	20435627	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
3	chr18:12431000-12449200	Weak transcription	Pancreas	Pancrea
4	chr18:12433000-12448800	Weak transcription	HUVEC	blood vessel
5	chr18:12433200-12449200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:12433200-12449200	Weak transcription	Gastric	stomach
7	chr18:12433200-12449200	Weak transcription	Spleen	Spleen
8	chr18:12433200-12450200	Weak transcription	Thymus	Thymus
9	chr18:12433200-12464600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:12433400-12458600	Weak transcription	HepG2	liver
11	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
12	chr18:12435200-12449000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:12438200-12449200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:12439200-12448800	Weak transcription	NHLF	lung
15	chr18:12439400-12468200	Weak transcription	K562	blood
16	chr18:12441600-12452200	Weak transcription	Hela-S3	cervix
17	chr18:12442000-12459200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:12443200-12457400	Strong transcription	HSMM	muscle
19	chr18:12443600-12454600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:12444000-12449000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr18:12444000-12460200	Weak transcription	Fetal Intestine Large	intestine
22	chr18:12444000-12467400	Weak transcription	A549	lung
23	chr18:12444200-12463200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:12444400-12448200	Weak transcription	NHDF-Ad	bronchial
25	chr18:12444400-12453400	Weak transcription	Small Intestine	intestine
26	chr18:12444400-12458600	Weak transcription	Fetal Heart	heart
27	chr18:12444400-12465800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:12444600-12448400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:12444600-12449000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:12444600-12449000	Weak transcription	Brain Anterior Caudate	brain
31	chr18:12444600-12449200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr18:12444600-12450200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:12444600-12455800	Weak transcription	Fetal Kidney	kidney
34	chr18:12444600-12457600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:12444600-12459400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr18:12444600-12477600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:12444800-12448200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:12444800-12449000	Weak transcription	Right Ventricle	heart
39	chr18:12444800-12450400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr18:12444800-12450800	Strong transcription	Fetal Brain Female	brain
41	chr18:12445000-12448200	Weak transcription	Adipose Nuclei	Adipose
42	chr18:12445000-12450000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:12445000-12454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr18:12445200-12448400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:12445600-12448800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr18:12445600-12448800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr18:12445600-12448800	Weak transcription	Brain Angular Gyrus	brain
48	chr18:12445600-12449000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:12445600-12459200	Weak transcription	Fetal Intestine Small	intestine
50	chr18:12445600-12460800	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links