Variant report

Variant	esv3441825
Chromosome Location	chr18:13506572-13508512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13425455..13428193-chr18:13506745..13508997,2	MCF-7	breast:
2	chr18:13504939..13506992-chr18:13515304..13518121,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267690	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141297437	chr18:13506589-13506590	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200397502	chr18:13506647-13506648	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs8092260	chr18:13506663-13506664	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs201377056	chr18:13506676-13506677	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547463809	chr18:13506914-13506915	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567148361	chr18:13506920-13506921	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534544682	chr18:13506936-13506937	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73954834	chr18:13506947-13506948	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567850554	chr18:13506962-13506963	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7505922	chr18:13506971-13506972	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556611183	chr18:13507023-13507024	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542816849	chr18:13507066-13507067	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80349686	chr18:13507088-13507089	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538624053	chr18:13507101-13507102	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553781910	chr18:13507102-13507103	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs8096281	chr18:13507106-13507107	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185785033	chr18:13507126-13507127	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554422828	chr18:13507130-13507131	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544128576	chr18:13507137-13507138	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576198286	chr18:13507192-13507193	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374385321	chr18:13507212-13507213	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146790625	chr18:13507228-13507229	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564969754	chr18:13507252-13507253	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532273567	chr18:13507253-13507254	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541012557	chr18:13507269-13507270	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35045187	chr18:13507315-13507316	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190258695	chr18:13507325-13507326	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527931847	chr18:13507331-13507332	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140458095	chr18:13507343-13507344	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567905208	chr18:13507440-13507441	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531929191	chr18:13507534-13507535	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150488084	chr18:13507561-13507562	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145387512	chr18:13507577-13507578	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs180942134	chr18:13507580-13507581	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149200331	chr18:13507589-13507590	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566070380	chr18:13507598-13507599	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536118645	chr18:13507600-13507601	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566708631	chr18:13507644-13507645	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs9952307	chr18:13507687-13507688	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116567244	chr18:13507750-13507751	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143329499	chr18:13507792-13507793	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376354837	chr18:13507812-13507813	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368831996	chr18:13507830-13507831	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9952677	chr18:13507833-13507834	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541151348	chr18:13507838-13507839	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559350597	chr18:13507889-13507890	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529682161	chr18:13507920-13507921	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541507606	chr18:13507922-13507923	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561604815	chr18:13507982-13507983	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531943301	chr18:13508019-13508020	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13471000-13537400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:13499600-13539200	Weak transcription	Gastric	stomach
3	chr18:13499800-13514200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr18:13499800-13531000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr18:13500000-13516800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr18:13500400-13517400	Weak transcription	Spleen	Spleen
7	chr18:13501400-13518200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:13501600-13525000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:13501800-13530600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:13502600-13507000	Genic enhancers	Thymus	Thymus
11	chr18:13502800-13525200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr18:13503000-13517000	Weak transcription	Adipose Nuclei	Adipose
13	chr18:13503000-13519200	Weak transcription	Pancreas	Pancrea
14	chr18:13503200-13506600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:13503200-13508000	Weak transcription	Fetal Stomach	stomach
16	chr18:13503200-13511800	Weak transcription	Brain Anterior Caudate	brain
17	chr18:13503200-13514600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr18:13503200-13517200	Weak transcription	Fetal Lung	lung
19	chr18:13503200-13521000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr18:13503400-13511600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:13503400-13512200	Weak transcription	Liver	Liver
22	chr18:13503400-13517400	Weak transcription	Aorta	Aorta
23	chr18:13503800-13508200	Weak transcription	Fetal Brain Female	brain
24	chr18:13503800-13512800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:13504200-13509000	Weak transcription	Left Ventricle	heart
26	chr18:13505000-13508200	Weak transcription	Psoas Muscle	Psoas
27	chr18:13505000-13509000	Weak transcription	Right Atrium	heart
28	chr18:13505000-13536000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr18:13505200-13506600	Weak transcription	Fetal Heart	heart
30	chr18:13505200-13506800	Enhancers	Primary T cells from cord blood	blood
31	chr18:13505200-13507600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr18:13505200-13511200	Strong transcription	Dnd41	blood
33	chr18:13505400-13507600	Enhancers	Fetal Thymus	thymus
34	chr18:13505600-13506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:13505800-13506800	Enhancers	Primary B cells from peripheral blood	blood
36	chr18:13505800-13506800	Enhancers	Primary hematopoietic stem cells	blood
37	chr18:13505800-13507000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr18:13505800-13507000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr18:13505800-13507000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr18:13505800-13507000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:13506000-13506600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr18:13506000-13506600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr18:13506000-13507000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:13506000-13507000	Enhancers	Fetal Muscle Leg	muscle
45	chr18:13506000-13515600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr18:13506200-13511600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr18:13506400-13507000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr18:13506400-13511000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr18:13506600-13507000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr18:13506600-13507000	Enhancers	Fetal Heart	heart

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