Variant report

Variant	nsv9606
Chromosome Location	chr18:9743017-9755287
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9754934..9759602-chr18:9760680..9767118,9	K562	blood:
2	chr18:9744137..9746832-chr18:9760873..9762598,2	K562	blood:
3	chr18:9743400..9743997-chr22:39916154..39916657,2	Hela-S3	cervix:
4	chr18:9718684..9720358-chr18:9741067..9743489,2	MCF-7	breast:
5	chr18:9742831..9745591-chr18:9750609..9753499,2	K562	blood:
6	chr18:9742561..9744290-chr18:9751696..9753226,2	MCF-7	breast:
7	chr18:9745938..9748130-chr18:9753763..9755422,2	K562	blood:
8	chr18:9751432..9753305-chr18:9757309..9758944,2	MCF-7	breast:
9	chr18:9720136..9722151-chr18:9751810..9753463,2	K562	blood:
10	chr18:9742128..9744122-chr18:9913987..9916976,3	MCF-7	breast:
11	chr18:9747038..9748943-chr18:9749027..9751835,2	K562	blood:
12	chr18:9742614..9745446-chr18:9869217..9871460,2	K562	blood:
13	chr18:9743133..9745591-chr18:9751999..9754524,3	K562	blood:
14	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
15	chr18:9742662..9744377-chr18:9770072..9773067,3	K562	blood:
16	chr18:9752235..9755136-chr18:9913982..9916846,2	K562	blood:
17	chr18:9741767..9745758-chr18:9756519..9760010,5	MCF-7	breast:
18	chr18:9709717..9711665-chr18:9750469..9752685,2	K562	blood:
19	chr18:9743211..9744889-chr18:9877031..9879316,2	K562	blood:
20	chr18:9743133..9745591-chr18:9751999..9754524,3	K562	blood:
21	chr18:9658659..9661626-chr18:9743254..9745822,2	K562	blood:
22	chr18:9754564..9758028-chr18:9758607..9762547,4	K562	blood:
23	chr18:9743764..9745565-chr18:9913039..9915568,2	MCF-7	breast:
24	chr18:9707138..9711181-chr18:9753549..9757373,4	MCF-7	breast:
25	chr18:9740906..9743732-chr18:9749016..9751277,2	K562	blood:
26	chr18:9742631..9745284-chr18:9756089..9758179,2	MCF-7	breast:
27	chr18:9740906..9743732-chr18:9749016..9751277,2	K562	blood:
28	chr18:9747038..9748943-chr18:9749027..9751835,2	K562	blood:
29	chr18:9713404..9715931-chr18:9740263..9743075,2	K562	blood:
30	chr18:9741964..9743633-chr18:9769521..9772284,2	MCF-7	breast:
31	chr18:9740906..9742512-chr18:9748438..9750516,2	K562	blood:
32	chr18:9742831..9745591-chr18:9750609..9753499,2	K562	blood:
33	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
34	chr18:9578277..9581617-chr18:9743011..9745983,3	K562	blood:
35	chr18:9731963..9738554-chr18:9740350..9745076,12	MCF-7	breast:
36	chr18:9707781..9712452-chr18:9739628..9745256,6	K562	blood:
37	chr18:9743740..9745947-chr18:9746216..9749165,3	K562	blood:
38	chr18:9743405..9745081-chr18:9803596..9805288,2	K562	blood:
39	chr18:9726328..9728477-chr18:9753850..9756440,2	K562	blood:
40	chr18:9741875..9744095-chr18:9783769..9785460,2	K562	blood:
41	chr18:9706059..9708947-chr18:9745597..9749109,3	MCF-7	breast:
42	chr18:9742066..9744058-chr18:9912319..9915888,3	K562	blood:
43	chr18:9705846..9708246-chr18:9741339..9743052,2	MCF-7	breast:
44	chr18:3449187..3449926-chr18:9742741..9743319,2	Hela-S3	cervix:
45	chr18:9709717..9711927-chr18:9749957..9752685,2	K562	blood:
46	chr18:9745938..9748130-chr18:9753763..9755422,2	K562	blood:
47	chr18:9742561..9744290-chr18:9751696..9753226,2	MCF-7	breast:
48	chr18:9743740..9745947-chr18:9746216..9749165,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266127	chromatin interactions
ENSG00000266891	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000128272	chromatin interactions
ENSG00000168461	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000272799	chromatin interactions

Extended variants
information (count: 493 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545334829	chr18:9743035-9743036	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs6506689	chr18:9743050-9743051	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs191540160	chr18:9743063-9743064	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs564105500	chr18:9743066-9743067	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs182610375	chr18:9743072-9743073	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs533370864	chr18:9743098-9743099	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs141800977	chr18:9743120-9743121	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs141142207	chr18:9743127-9743128	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs150304265	chr18:9743128-9743129	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs527830953	chr18:9743150-9743151	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs138071335	chr18:9743200-9743201	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs568174686	chr18:9743212-9743213	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs35079939	chr18:9743220-9743221	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs76105379	chr18:9743250-9743251	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs550462855	chr18:9743269-9743270	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs568473080	chr18:9743286-9743287	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs539036109	chr18:9743296-9743297	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs149539335	chr18:9743297-9743298	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs17431841	chr18:9743326-9743327	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs186883927	chr18:9743328-9743329	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs191330583	chr18:9743395-9743396	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs114218164	chr18:9743406-9743407	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs145985590	chr18:9743557-9743558	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs182062091	chr18:9743589-9743590	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs189254677	chr18:9743595-9743596	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs545420736	chr18:9743597-9743598	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs16955490	chr18:9743635-9743636	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527748587	chr18:9743642-9743643	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs147390375	chr18:9743676-9743677	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs528752754	chr18:9743685-9743686	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs1298737	chr18:9743693-9743694	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs549229135	chr18:9743798-9743799	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs548498490	chr18:9743819-9743820	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs75433330	chr18:9743852-9743853	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs529085916	chr18:9743858-9743859	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs550401053	chr18:9743860-9743861	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs117626832	chr18:9743889-9743890	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs539376717	chr18:9743950-9743951	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs11662192	chr18:9743973-9743974	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs566360387	chr18:9744000-9744001	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs139917641	chr18:9744040-9744041	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs141789909	chr18:9744058-9744059	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs34917975	chr18:9744113-9744114	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs375964632	chr18:9744128-9744129	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs921837	chr18:9744152-9744153	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs921836	chr18:9744160-9744161	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375965687	chr18:9744199-9744200	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs193087118	chr18:9744203-9744204	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs578245279	chr18:9744245-9744246	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs543394238	chr18:9744269-9744270	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9733000-9743600	Weak transcription	Gastric	stomach
2	chr18:9738000-9744000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:9738200-9743800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr18:9738200-9746000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr18:9739800-9744200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:9740000-9744200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:9740600-9744000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:9740800-9744000	Enhancers	Placenta	Placenta
9	chr18:9740800-9744400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:9741000-9744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:9741400-9744000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:9741400-9744000	Enhancers	Esophagus	oesophagus
13	chr18:9741400-9744000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr18:9741400-9744400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr18:9741400-9744400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:9741400-9744400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr18:9741400-9744400	Enhancers	HSMM	muscle
18	chr18:9741600-9743400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:9741600-9743400	Enhancers	HSMMtube	muscle
20	chr18:9741600-9743600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:9741600-9743600	Enhancers	Fetal Brain Male	brain
22	chr18:9741600-9744000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:9741600-9744200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr18:9741600-9744400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr18:9741800-9743200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr18:9741800-9743400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:9741800-9743800	Enhancers	Small Intestine	intestine
28	chr18:9741800-9744200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr18:9741800-9744200	Enhancers	NHLF	lung
30	chr18:9741800-9744400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr18:9741800-9744400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:9741800-9744400	Enhancers	HMEC	breast
33	chr18:9741800-9744600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr18:9741800-9744800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr18:9742000-9743200	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr18:9742000-9744200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr18:9742000-9744400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr18:9742000-9744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr18:9742200-9743200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:9742200-9743200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr18:9742200-9743400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:9742200-9743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr18:9742200-9744000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:9742200-9746600	Weak transcription	Colon Smooth Muscle	Colon
45	chr18:9742400-9743200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr18:9742400-9743200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr18:9742400-9743200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr18:9742400-9743200	Flanking Active TSS	Ovary	ovary
49	chr18:9742400-9744000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:9742400-9744000	Flanking Active TSS	K562	blood

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