Variant report

Variant	nsv909335
Chromosome Location	chr18:6661946-6680658
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:6672907..6676743-chr18:6676985..6680326,4	K562	blood:
2	chr18:6677160..6680271-chr18:6681129..6683150,5	K562	blood:
3	chr18:6676534..6678660-chr18:6681129..6684037,2	K562	blood:
4	chr18:6675021..6678656-chr18:6685638..6689363,5	K562	blood:
5	chr18:6668807..6670377-chr18:6672389..6675237,2	K562	blood:
6	chr18:6672907..6676743-chr18:6676985..6680326,4	K562	blood:
7	chr18:6667604..6670342-chr18:6728506..6731049,3	K562	blood:
8	chr18:6679662..6682250-chr18:6685421..6688105,2	K562	blood:
9	chr18:6668807..6670377-chr18:6672389..6675237,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266441	chromatin interactions
ENSG00000088756	chromatin interactions

Extended variants
information (count: 807 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:807 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1941492	chr18:6661946-6661947	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372388857	chr18:6661981-6661982	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558545311	chr18:6661982-6661983	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575624641	chr18:6661985-6661986	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191300995	chr18:6662021-6662022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376451344	chr18:6662043-6662044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560844424	chr18:6662067-6662068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529760438	chr18:6662070-6662071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145564581	chr18:6662108-6662109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138178128	chr18:6662109-6662110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7504353	chr18:6662152-6662153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142806019	chr18:6662242-6662243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78726525	chr18:6662252-6662253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571785297	chr18:6662295-6662296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75456255	chr18:6662332-6662333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550910825	chr18:6662366-6662367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546361275	chr18:6662367-6662368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575679377	chr18:6662385-6662386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536258453	chr18:6662395-6662396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546731254	chr18:6662448-6662449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182170269	chr18:6662464-6662465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144283968	chr18:6662467-6662468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376947617	chr18:6662469-6662470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558702168	chr18:6662543-6662544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575536765	chr18:6662580-6662581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75647388	chr18:6662603-6662604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186683936	chr18:6662623-6662624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4797254	chr18:6662627-6662628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192308605	chr18:6662629-6662630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9947929	chr18:6662650-6662651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs62081436	chr18:6662663-6662664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559962268	chr18:6662760-6662761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117971052	chr18:6662863-6662864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545612291	chr18:6662875-6662876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183355852	chr18:6662881-6662882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187247967	chr18:6662882-6662883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11873050	chr18:6662899-6662900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201163699	chr18:6662930-6662931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376277344	chr18:6662992-6662993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76969807	chr18:6663045-6663046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546989458	chr18:6663077-6663078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548913167	chr18:6663083-6663084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193072327	chr18:6663097-6663098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141477309	chr18:6663130-6663131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150870635	chr18:6663158-6663159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35310405	chr18:6663177-6663178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12605158	chr18:6663209-6663210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554855977	chr18:6663210-6663211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574803128	chr18:6663214-6663215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533517308	chr18:6663235-6663236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6659000-6662400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr18:6659800-6662000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:6660000-6662600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr18:6660000-6662600	Enhancers	HSMM	muscle
5	chr18:6660200-6662200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr18:6660800-6666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:6661200-6662000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:6661200-6662000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr18:6661200-6662400	Enhancers	Fetal Muscle Leg	muscle
10	chr18:6661200-6662400	Enhancers	HSMMtube	muscle
11	chr18:6661400-6662000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:6661400-6662000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:6661400-6662200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:6661400-6662400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr18:6661600-6662000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr18:6661600-6662400	Enhancers	Hela-S3	cervix
17	chr18:6661800-6662000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:6661800-6662000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:6661800-6662000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr18:6661800-6662400	Enhancers	Fetal Lung	lung
21	chr18:6661800-6662600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:6662000-6662400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr18:6662000-6663200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:6662200-6662600	Enhancers	Fetal Kidney	kidney
25	chr18:6662400-6666400	Weak transcription	Fetal Lung	lung
26	chr18:6662400-6667200	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:6663200-6663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:6665600-6667000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:6665800-6666600	Enhancers	NHDF-Ad	bronchial
30	chr18:6666000-6666800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:6666400-6666600	Enhancers	Fetal Lung	lung
32	chr18:6666400-6683800	Weak transcription	Right Atrium	heart
33	chr18:6666600-6667000	Weak transcription	Fetal Lung	lung
34	chr18:6667000-6669200	Enhancers	Fetal Lung	lung
35	chr18:6667200-6667400	Enhancers	Fetal Muscle Leg	muscle
36	chr18:6668800-6669200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr18:6669200-6673000	Weak transcription	Fetal Lung	lung
38	chr18:6672000-6674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr18:6672800-6673400	Enhancers	K562	blood
40	chr18:6673000-6673400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:6673000-6673600	Enhancers	Fetal Lung	lung
42	chr18:6673200-6673600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:6673400-6673600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:6673400-6675400	Weak transcription	K562	blood
45	chr18:6673600-6681400	Weak transcription	Fetal Lung	lung
46	chr18:6673600-6682600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:6675400-6676400	Enhancers	K562	blood
48	chr18:6675600-6675800	Enhancers	Spleen	Spleen
49	chr18:6675800-6676000	Weak transcription	Spleen	Spleen
50	chr18:6676400-6677000	Flanking Active TSS	K562	blood

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