Variant report

Variant	nsv909290
Chromosome Location	chr18:377746-407958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:366740..368283-chr18:380460..382795,2	MCF-7	breast:
2	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
3	chr18:393515..395021-chr18:401275..403491,2	K562	blood:
4	chr18:387314..389519-chr18:391582..393434,2	K562	blood:
5	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
6	chr18:362806..364833-chr18:392678..394320,2	K562	blood:
7	chr18:398278..401003-chr18:448544..450699,2	MCF-7	breast:
8	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
9	chr18:387414..389683-chr18:397605..399676,2	MCF-7	breast:
10	chr18:385070..387851-chr18:389835..392598,2	MCF-7	breast:
11	chr18:393515..395021-chr18:401275..403491,2	K562	blood:
12	chr18:373442..375390-chr18:380419..383065,2	K562	blood:
13	chr18:401348..404320-chr18:415825..418270,2	K562	blood:

No data

Extended variants
information (count: 1241 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4798111	chr18:377746-377747	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191629928	chr18:377785-377786	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs558888819	chr18:377800-377801	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs560000104	chr18:377801-377802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111373494	chr18:377808-377809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544727007	chr18:377811-377812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11663235	chr18:377818-377819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112775069	chr18:377904-377905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76372263	chr18:377930-377931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537904937	chr18:377950-377951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36036931	chr18:377969-377970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367983891	chr18:378033-378034	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183038789	chr18:378070-378071	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569402286	chr18:378134-378135	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536458551	chr18:378141-378142	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140504273	chr18:378151-378152	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573554709	chr18:378157-378158	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs78414801	chr18:378163-378164	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112893067	chr18:378164-378165	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371762678	chr18:378181-378182	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547593060	chr18:378195-378196	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558980552	chr18:378197-378198	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529623205	chr18:378291-378292	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs188115440	chr18:378320-378321	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs543050415	chr18:378330-378331	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs574911652	chr18:378335-378336	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs59461532	chr18:378338-378339	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368350200	chr18:378351-378352	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150421193	chr18:378390-378391	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs56786672	chr18:378401-378402	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567493409	chr18:378456-378457	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115442970	chr18:378469-378470	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531228249	chr18:378499-378500	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs530235739	chr18:378557-378558	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552299593	chr18:378615-378616	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191357423	chr18:378616-378617	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73356536	chr18:378621-378622	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548524182	chr18:378668-378669	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548797095	chr18:378674-378675	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs183583275	chr18:378675-378676	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534451996	chr18:378771-378772	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116723484	chr18:378782-378783	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs147622024	chr18:378826-378827	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537836636	chr18:378861-378862	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs28418891	chr18:378904-378905	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142151480	chr18:378949-378950	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574837075	chr18:378974-378975	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs201740036	chr18:378984-378985	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376382080	chr18:378991-378992	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541963237	chr18:378993-378994	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:367000-380800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:369600-382600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr18:370800-383600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:372000-379000	Enhancers	NHDF-Ad	bronchial
5	chr18:373000-379000	Enhancers	Rectal Smooth Muscle	rectum
6	chr18:373200-380800	Enhancers	Fetal Muscle Leg	muscle
7	chr18:373600-378800	Enhancers	Fetal Stomach	stomach
8	chr18:373800-379200	Enhancers	Pancreas	Pancrea
9	chr18:373800-380800	Enhancers	Adipose Nuclei	Adipose
10	chr18:374000-378200	Enhancers	Colon Smooth Muscle	Colon
11	chr18:374000-378800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr18:374400-378400	Enhancers	Stomach Smooth Muscle	stomach
13	chr18:375000-379600	Weak transcription	Fetal Kidney	kidney
14	chr18:375200-379800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr18:375400-378000	Weak transcription	Brain Germinal Matrix	brain
16	chr18:375800-378000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:375800-380800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr18:376000-378200	Enhancers	Brain Hippocampus Middle	brain
19	chr18:376000-378800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr18:376200-378000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr18:376200-378800	Enhancers	Brain Anterior Caudate	brain
22	chr18:376200-379000	Enhancers	Brain Substantia Nigra	brain
23	chr18:376600-377800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr18:376600-377800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr18:376600-377800	Enhancers	Aorta	Aorta
26	chr18:376600-379000	Enhancers	Brain Cingulate Gyrus	brain
27	chr18:376800-377800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:376800-377800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr18:376800-378000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr18:376800-378000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr18:376800-378400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr18:376800-378600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr18:376800-378800	Enhancers	Brain Angular Gyrus	brain
34	chr18:376800-381000	Enhancers	Placenta	Placenta
35	chr18:377000-377800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:377000-377800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:377000-379200	Enhancers	Fetal Muscle Trunk	muscle
38	chr18:377000-379600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:377200-378000	Weak transcription	Osteobl	bone
40	chr18:377200-378200	Enhancers	Lung	lung
41	chr18:377200-378400	Enhancers	Gastric	stomach
42	chr18:377200-378600	Enhancers	Esophagus	oesophagus
43	chr18:377400-378400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:377400-378600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:377400-380200	Weak transcription	Spleen	Spleen
46	chr18:377400-381800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:377600-378400	Weak transcription	Fetal Lung	lung
48	chr18:377600-378800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr18:377600-380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr18:377800-378600	Enhancers	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links