Variant report

Variant	esv14276
Chromosome Location	chr18:10134666-10145472
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:1)
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	chr18:10130119..10133114-chr18:10136118..10137885,2	K562	blood:
2	chr1:166774410..166776713-chr18:10141195..10143804,2	MCF-7	breast:
3	chr18:10134410..10137030-chr18:10138779..10140761,3	MCF-7	breast:
4	chr18:10114524..10117278-chr18:10140280..10142639,2	MCF-7	breast:
5	chr18:10134410..10137030-chr18:10138779..10140761,3	MCF-7	breast:
6	chr18:10137585..10140359-chr18:10524506..10527434,2	MCF-7	breast:
7	chr18:10131677..10133258-chr18:10139639..10141512,2	MCF-7	breast:
8	chr18:10124765..10127704-chr18:10136968..10139456,2	K562	blood:
9	chr18:10128038..10130453-chr18:10139659..10142344,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VAPA-2	chr18:10144154-10144403	ENSG00000265554.1

No data

Variant related genes	Relation type
ENSG00000134265	chromatin interactions
ENSG00000265554	chromatin interactions

Extended variants
information (count: 462 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:462 , 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	rs555779930	chr18:10134667-10134668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561422696	chr18:10134709-10134710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575504315	chr18:10134710-10134711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551144672	chr18:10134718-10134719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563048913	chr18:10134770-10134771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113360452	chr18:10134780-10134781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551504922	chr18:10134788-10134789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566907910	chr18:10134808-10134809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534163544	chr18:10134844-10134845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112119792	chr18:10134857-10134858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567752800	chr18:10134865-10134866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368613016	chr18:10134902-10134903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535301758	chr18:10134903-10134904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564191435	chr18:10134922-10134923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140225903	chr18:10134936-10134937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183528141	chr18:10134945-10134946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs618394	chr18:10134996-10134997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116905518	chr18:10135006-10135007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs499553	chr18:10135010-10135011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572531502	chr18:10135019-10135020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539837475	chr18:10135031-10135032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190398368	chr18:10135059-10135060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555083770	chr18:10135060-10135061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375249382	chr18:10135106-10135107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544482073	chr18:10135148-10135149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559902619	chr18:10135149-10135150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369465445	chr18:10135154-10135155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28626185	chr18:10135334-10135335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77541591	chr18:10135353-10135354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560764361	chr18:10135424-10135425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548800106	chr18:10135460-10135461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9967192	chr18:10135477-10135478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs193244073	chr18:10135501-10135502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568836404	chr18:10135509-10135510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185353141	chr18:10135525-10135526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531164995	chr18:10135563-10135564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531805497	chr18:10135590-10135591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190151834	chr18:10135619-10135620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569066428	chr18:10135628-10135629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539233163	chr18:10135683-10135684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181382430	chr18:10135686-10135687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540114324	chr18:10135687-10135688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566417028	chr18:10135704-10135705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533552067	chr18:10135745-10135746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569638273	chr18:10135780-10135781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554895425	chr18:10135827-10135828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs604136	chr18:10135862-10135863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9967550	chr18:10135879-10135880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555965736	chr18:10135911-10135912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185756730	chr18:10135925-10135926	Weak transcription Enhancers	n/a	n/a	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
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
low-grade B-cell lymphoma tumor	18367492	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
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:10130000-10135000	Weak transcription	NHDF-Ad	bronchial
2	chr18:10131800-10135000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:10132200-10135200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:10132400-10137400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:10132400-10138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:10132400-10139800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:10132600-10136000	Weak transcription	NHEK	skin
8	chr18:10132600-10139800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:10132600-10139800	Weak transcription	HSMM	muscle
10	chr18:10133000-10139800	Weak transcription	Pancreas	Pancrea
11	chr18:10133400-10140400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:10134600-10135800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:10134600-10139200	Weak transcription	Fetal Thymus	thymus
14	chr18:10134600-10139600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:10134600-10139600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:10134600-10139800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr18:10134600-10139800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:10134600-10140200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr18:10135000-10135800	Enhancers	NH-A	brain
20	chr18:10135000-10136200	Enhancers	NHDF-Ad	bronchial
21	chr18:10135000-10136200	Enhancers	Osteobl	bone
22	chr18:10135000-10136400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:10135200-10136200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:10135200-10139400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:10135400-10135600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr18:10135600-10136000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:10135800-10139400	Weak transcription	NH-A	brain
28	chr18:10136000-10136400	Enhancers	NHEK	skin
29	chr18:10136000-10139600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:10136200-10137800	Weak transcription	NHDF-Ad	bronchial
31	chr18:10136200-10138200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:10136200-10139400	Weak transcription	Osteobl	bone
33	chr18:10136400-10137400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:10136400-10139600	Weak transcription	NHEK	skin
35	chr18:10136800-10138400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr18:10137400-10139800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:10137400-10140400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:10137400-10144400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:10137800-10138600	Enhancers	Fetal Muscle Leg	muscle
40	chr18:10137800-10144400	Enhancers	NHDF-Ad	bronchial
41	chr18:10138200-10138400	Enhancers	Stomach Mucosa	stomach
42	chr18:10138200-10142800	Enhancers	Fetal Stomach	stomach
43	chr18:10138200-10144200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:10138400-10139200	Enhancers	Colon Smooth Muscle	Colon
45	chr18:10138400-10139800	Weak transcription	Stomach Mucosa	stomach
46	chr18:10138400-10140600	Weak transcription	Fetal Intestine Small	intestine
47	chr18:10138600-10139800	Weak transcription	Fetal Muscle Leg	muscle
48	chr18:10138600-10140400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:10138800-10139000	Enhancers	Rectal Smooth Muscle	rectum
50	chr18:10138800-10139800	Enhancers	A549	lung

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