Variant report

Variant	esv2761990
Chromosome Location	chr18:10136596-10143650
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	chr18:10114524..10117278-chr18:10140280..10142639,2	MCF-7	breast:
2	chr18:10128038..10130453-chr18:10139659..10142344,2	MCF-7	breast:
3	chr18:10124765..10127704-chr18:10136968..10139456,2	K562	blood:
4	chr18:10134410..10137030-chr18:10138779..10140761,3	MCF-7	breast:
5	chr18:10134410..10137030-chr18:10138779..10140761,3	MCF-7	breast:
6	chr18:10130119..10133114-chr18:10136118..10137885,2	K562	blood:
7	chr18:10137585..10140359-chr18:10524506..10527434,2	MCF-7	breast:
8	chr18:10131677..10133258-chr18:10139639..10141512,2	MCF-7	breast:
9	chr1:166774410..166776713-chr18:10141195..10143804,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265554	chromatin interactions
ENSG00000134265	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11080390	chr18:10136596-10136597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527466116	chr18:10136602-10136603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34354596	chr18:10136628-10136629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34468881	chr18:10136653-10136654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377481538	chr18:10136669-10136670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143043211	chr18:10136681-10136682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568721931	chr18:10136730-10136731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571344762	chr18:10136733-10136734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538705406	chr18:10136756-10136757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540129385	chr18:10136799-10136800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77405221	chr18:10136848-10136849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572707809	chr18:10136886-10136887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537351849	chr18:10136908-10136909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138751798	chr18:10136945-10136946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141872739	chr18:10136978-10136979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145401182	chr18:10136980-10136981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549740239	chr18:10136989-10136990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192109921	chr18:10137059-10137060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184049389	chr18:10137060-10137061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559418864	chr18:10137084-10137085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111412662	chr18:10137085-10137086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548728434	chr18:10137100-10137101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561239431	chr18:10137138-10137139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191784018	chr18:10137146-10137147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141755658	chr18:10137148-10137149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11873677	chr18:10137190-10137191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532126486	chr18:10137194-10137195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139802706	chr18:10137261-10137262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149345847	chr18:10137288-10137289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs66822679	chr18:10137291-10137292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147460982	chr18:10137303-10137304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570348594	chr18:10137336-10137337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537312240	chr18:10137352-10137353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559186742	chr18:10137364-10137365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs508155	chr18:10137382-10137383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182769953	chr18:10137391-10137392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115760408	chr18:10137488-10137489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377685859	chr18:10137511-10137512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140163729	chr18:10137512-10137513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560888662	chr18:10137545-10137546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113576587	chr18:10137549-10137550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543382389	chr18:10137579-10137580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189925956	chr18:10137586-10137587	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532183782	chr18:10137588-10137589	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs149181776	chr18:10137647-10137648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547374534	chr18:10137670-10137671	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs80074173	chr18:10137673-10137674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529783021	chr18:10137674-10137675	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs147709718	chr18:10137706-10137707	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570189343	chr18:10137715-10137716	Weak transcription Enhancers	Chromatin interactive region	2 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
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:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:10132400-10137400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:10132400-10138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr18:10132400-10139800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:10132600-10139800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:10132600-10139800	Weak transcription	HSMM	muscle
6	chr18:10133000-10139800	Weak transcription	Pancreas	Pancrea
7	chr18:10133400-10140400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:10134600-10139200	Weak transcription	Fetal Thymus	thymus
9	chr18:10134600-10139600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:10134600-10139600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr18:10134600-10139800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:10134600-10139800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:10134600-10140200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr18:10135200-10139400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:10135800-10139400	Weak transcription	NH-A	brain
16	chr18:10136000-10139600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:10136200-10137800	Weak transcription	NHDF-Ad	bronchial
18	chr18:10136200-10138200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:10136200-10139400	Weak transcription	Osteobl	bone
20	chr18:10136400-10137400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:10136400-10139600	Weak transcription	NHEK	skin
22	chr18:10136800-10138400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr18:10137400-10139800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:10137400-10140400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr18:10137400-10144400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:10137800-10138600	Enhancers	Fetal Muscle Leg	muscle
27	chr18:10137800-10144400	Enhancers	NHDF-Ad	bronchial
28	chr18:10138200-10138400	Enhancers	Stomach Mucosa	stomach
29	chr18:10138200-10142800	Enhancers	Fetal Stomach	stomach
30	chr18:10138200-10144200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:10138400-10139200	Enhancers	Colon Smooth Muscle	Colon
32	chr18:10138400-10139800	Weak transcription	Stomach Mucosa	stomach
33	chr18:10138400-10140600	Weak transcription	Fetal Intestine Small	intestine
34	chr18:10138600-10139800	Weak transcription	Fetal Muscle Leg	muscle
35	chr18:10138600-10140400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:10138800-10139000	Enhancers	Rectal Smooth Muscle	rectum
37	chr18:10138800-10139800	Enhancers	A549	lung
38	chr18:10139000-10140000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr18:10139000-10140200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:10139000-10141400	Enhancers	NHLF	lung
41	chr18:10139200-10140200	Weak transcription	Colon Smooth Muscle	Colon
42	chr18:10139200-10142000	Enhancers	Fetal Thymus	thymus
43	chr18:10139400-10140200	Enhancers	HepG2	liver
44	chr18:10139400-10142800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:10139400-10143000	Enhancers	NH-A	brain
46	chr18:10139400-10143000	Enhancers	Osteobl	bone
47	chr18:10139600-10141200	Enhancers	NHEK	skin
48	chr18:10139600-10141400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr18:10139600-10142200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr18:10139600-10142600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links