Variant report

Variant	nsv470414
Chromosome Location	chr18:28566665-28576533
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:28573183..28576916-chr18:28580259..28583981,4	K562	blood:
2	chr18:28571461..28573412-chr18:28577844..28580098,2	K562	blood:
3	chr18:28574400..28576082-chr18:29076395..29079377,2	K562	blood:
4	chr17:41445189..41445780-chr18:28568602..28569103,2	NB4	blood:
5	chr18:28567247..28569402-chr18:28680129..28682819,2	K562	blood:
6	chr18:28570757..28572832-chr18:28637402..28639555,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DSC3	hsa-miR-33a-5p	chr18:28573536-28573558

Variant related genes	Relation type
ENSG00000261521	chromatin interactions
ENSG00000266521	chromatin interactions
ENSG00000265888	chromatin interactions
ENSG00000046604	chromatin interactions
ENSG00000134755	chromatin interactions

Extended variants
information (count: 434 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1790690	chr18:28566665-28566666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545074541	chr18:28566712-28566713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576058988	chr18:28566735-28566736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537346102	chr18:28566769-28566770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555680391	chr18:28566788-28566789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143190038	chr18:28566876-28566877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369893811	chr18:28566935-28566936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34956148	chr18:28566940-28566941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563356839	chr18:28566986-28566987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541220082	chr18:28567048-28567049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553552004	chr18:28567081-28567082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577630055	chr18:28567106-28567107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185475794	chr18:28567107-28567108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530564861	chr18:28567136-28567137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143320879	chr18:28567141-28567142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149457720	chr18:28567175-28567176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189923396	chr18:28567204-28567205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528388208	chr18:28567205-28567206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546446332	chr18:28567226-28567227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs147126612	chr18:28567240-28567241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563924638	chr18:28567253-28567254	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533250256	chr18:28567259-28567260	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181971339	chr18:28567359-28567360	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553666998	chr18:28567364-28567365	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569705666	chr18:28567376-28567377	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138323755	chr18:28567394-28567395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs115457449	chr18:28567417-28567418	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567834692	chr18:28567423-28567424	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186349747	chr18:28567460-28567461	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7244837	chr18:28567474-28567475	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs578144248	chr18:28567488-28567489	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545118606	chr18:28567540-28567541	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532558665	chr18:28567550-28567551	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190752975	chr18:28567559-28567560	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542596196	chr18:28567598-28567599	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560885219	chr18:28567600-28567601	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs528362459	chr18:28567639-28567640	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540551220	chr18:28567647-28567648	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs180869108	chr18:28567669-28567670	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376666602	chr18:28567688-28567689	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs73952544	chr18:28567708-28567709	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76823873	chr18:28567709-28567710	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530935506	chr18:28567710-28567711	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548930075	chr18:28567711-28567712	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528384508	chr18:28567714-28567715	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373491109	chr18:28567728-28567729	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs534985141	chr18:28567730-28567731	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs547317133	chr18:28567737-28567738	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs61157021	chr18:28567755-28567756	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200021269	chr18:28567775-28567776	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28563000-28566800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr18:28565200-28567200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:28565800-28567200	Enhancers	NHEK	skin
4	chr18:28566000-28567400	Weak transcription	Pancreas	Pancrea
5	chr18:28566000-28567400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr18:28566000-28567800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:28566200-28567200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:28566200-28567200	Weak transcription	HMEC	breast
9	chr18:28566200-28567800	Weak transcription	Fetal Brain Male	brain
10	chr18:28566200-28572400	Weak transcription	Esophagus	oesophagus
11	chr18:28566200-28600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:28566400-28568400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr18:28566800-28569400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:28567200-28567400	Enhancers	Hela-S3	cervix
15	chr18:28567200-28567600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:28567200-28568200	Enhancers	Fetal Intestine Small	intestine
17	chr18:28567200-28568600	Flanking Active TSS	NHEK	skin
18	chr18:28567200-28568800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr18:28567200-28568800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:28567200-28568800	Enhancers	HMEC	breast
21	chr18:28567400-28567600	Enhancers	Fetal Intestine Large	intestine
22	chr18:28567400-28567600	Enhancers	Pancreas	Pancrea
23	chr18:28567400-28567800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr18:28567400-28567800	Enhancers	A549	lung
25	chr18:28567400-28567800	Flanking Active TSS	Hela-S3	cervix
26	chr18:28567400-28567800	Enhancers	K562	blood
27	chr18:28567400-28568200	Enhancers	Placenta	Placenta
28	chr18:28567400-28568400	Enhancers	Stomach Mucosa	stomach
29	chr18:28567400-28568800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr18:28567600-28569400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:28567800-28568000	Flanking Active TSS	A549	lung
32	chr18:28567800-28568000	Enhancers	Hela-S3	cervix
33	chr18:28567800-28568400	Enhancers	Fetal Brain Male	brain
34	chr18:28567800-28568600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:28567800-28569400	Enhancers	Fetal Heart	heart
36	chr18:28567800-28571400	Weak transcription	K562	blood
37	chr18:28568200-28568400	Enhancers	Fetal Intestine Large	intestine
38	chr18:28568400-28572200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr18:28568600-28569600	Enhancers	NHEK	skin
40	chr18:28568800-28569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:28568800-28571600	Weak transcription	HMEC	breast
42	chr18:28568800-28572400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:28569400-28570400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:28569400-28572000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:28569600-28572200	Weak transcription	NHEK	skin
46	chr18:28569800-28571200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:28570400-28572400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:28571200-28571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:28571400-28571800	Active TSS	K562	blood
50	chr18:28571600-28571800	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links