Variant report

Variant	esv3349166
Chromosome Location	chr18:9405244-9405830
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	chr18:9403556..9405805-chr18:9474208..9475732,2	K562	blood:
2	chr18:9400916..9402861-chr18:9404497..9406398,2	K562	blood:
3	chr18:9404638..9407213-chr18:9506119..9508362,3	K562	blood:
4	chr18:9403602..9406449-chr18:9432221..9434991,2	K562	blood:
5	chr18:9333321..9335278-chr18:9403311..9405898,2	K562	blood:
6	chr18:9404903..9406834-chr18:9422722..9425221,2	K562	blood:
7	chr18:9404955..9406472-chr18:9406848..9409026,2	K562	blood:
8	chr18:9405506..9408688-chr18:9417406..9420162,3	K562	blood:
9	chr18:9405425..9408641-chr18:9409577..9413054,4	K562	blood:
10	chr18:9405763..9408189-chr18:9426864..9428674,2	K562	blood:
11	chr18:9403620..9407006-chr18:9414651..9419488,7	K562	blood:
12	chr18:9404554..9406129-chr18:9536723..9538920,2	K562	blood:
13	chr18:9334529..9336370-chr18:9404917..9406720,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000017797	chromatin interactions
ENSG00000266805	chromatin interactions
ENSG00000264964	chromatin interactions
ENSG00000128791	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188583223	chr18:9405270-9405271	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs8098412	chr18:9405273-9405274	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs8098532	chr18:9405329-9405330	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs8098555	chr18:9405388-9405389	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10638247	chr18:9405445-9405446	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs386387025	chr18:9405446-9405447	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs36016261	chr18:9405469-9405470	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs558800588	chr18:9405483-9405484	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs564100562	chr18:9405507-9405508	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs528776869	chr18:9405553-9405554	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546864038	chr18:9405600-9405601	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs12967034	chr18:9405640-9405641	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs191910096	chr18:9405642-9405643	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs8093792	chr18:9405654-9405655	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183298162	chr18:9405702-9405703	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs113063444	chr18:9405709-9405710	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs138655724	chr18:9405715-9405716	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs375602183	chr18:9405734-9405735	Enhancers Strong transcription Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs79860412	chr18:9405809-9405810	Enhancers Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs201281160	chr18:9405812-9405813	Enhancers Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs74254677	chr18:9405813-9405814	Enhancers Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
2	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
3	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr18:9389400-9405400	Weak transcription	Lung	lung
5	chr18:9393200-9411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:9393400-9407600	Weak transcription	Brain Germinal Matrix	brain
7	chr18:9395000-9405600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:9395600-9406000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:9396600-9413800	Weak transcription	NH-A	brain
10	chr18:9397200-9413600	Weak transcription	HSMMtube	muscle
11	chr18:9397200-9416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:9397400-9406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:9397800-9416600	Weak transcription	HSMM	muscle
14	chr18:9399600-9413600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:9400600-9413400	Weak transcription	Osteobl	bone
16	chr18:9400600-9416600	Weak transcription	Brain Anterior Caudate	brain
17	chr18:9400800-9408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:9401000-9408600	Weak transcription	NHEK	skin
19	chr18:9401400-9406000	Weak transcription	Brain Substantia Nigra	brain
20	chr18:9401400-9413800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:9401600-9413600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr18:9403000-9406400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:9403200-9408400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:9403400-9407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:9403800-9405400	Flanking Active TSS	K562	blood
26	chr18:9404000-9405400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr18:9404000-9410200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9404000-9413000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:9404000-9416800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:9404200-9405400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr18:9404400-9406400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:9404600-9405400	Flanking Active TSS	HUVEC	blood vessel
33	chr18:9404800-9405800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:9405000-9406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:9405000-9412600	Weak transcription	Fetal Stomach	stomach
36	chr18:9405000-9417000	Weak transcription	Right Atrium	heart
37	chr18:9405200-9405600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:9405200-9406000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:9405200-9406000	Enhancers	Primary hematopoietic stem cells	blood
40	chr18:9405200-9407400	Weak transcription	Fetal Brain Female	brain
41	chr18:9405400-9405800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr18:9405400-9406200	Enhancers	HUVEC	blood vessel
43	chr18:9405400-9406200	Enhancers	K562	blood
44	chr18:9405400-9408800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr18:9405600-9417400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr18:9405800-9406000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr18:9405800-9406400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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