Variant report

Variant	esv3422010
Chromosome Location	chr18:11765152-11769650
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	chr18:11761291..11763211-chr18:11764599..11766754,2	MCF-7	breast:
2	chr18:11768539..11770785-chr18:11848964..11851728,2	K562	blood:

Variant related genes	Relation type
ENSG00000255112	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375688620	chr18:11765186-11765187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8093063	chr18:11765224-11765225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530525433	chr18:11765255-11765256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551825434	chr18:11765266-11765267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570325683	chr18:11765276-11765277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377048809	chr18:11765288-11765289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149112256	chr18:11765294-11765295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561414245	chr18:11765322-11765323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs8094039	chr18:11765356-11765357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs188297886	chr18:11765360-11765361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575076774	chr18:11765464-11765465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530130828	chr18:11765479-11765480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550281515	chr18:11765521-11765522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569609846	chr18:11765522-11765523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78629072	chr18:11765544-11765545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577542752	chr18:11765572-11765573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541644373	chr18:11765582-11765583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553672151	chr18:11765585-11765586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112143372	chr18:11765594-11765595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151218950	chr18:11765612-11765613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73399817	chr18:11765660-11765661	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142671812	chr18:11765693-11765694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374000973	chr18:11765741-11765742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375551467	chr18:11765751-11765752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531536992	chr18:11765786-11765787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530389304	chr18:11765794-11765795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140329607	chr18:11765814-11765815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181158779	chr18:11765841-11765842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370111026	chr18:11765847-11765848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570158191	chr18:11765883-11765884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546193501	chr18:11765884-11765885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145425642	chr18:11765911-11765912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546380082	chr18:11765930-11765931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184231392	chr18:11766031-11766032	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs78758355	chr18:11766045-11766046	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs138337531	chr18:11766122-11766123	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576441280	chr18:11766126-11766127	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs537421045	chr18:11766153-11766154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34901463	chr18:11766184-11766185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559140849	chr18:11766188-11766189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570951002	chr18:11766274-11766275	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74354438	chr18:11766298-11766299	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532591358	chr18:11766301-11766302	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs188816501	chr18:11766400-11766401	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542172091	chr18:11766415-11766416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376650510	chr18:11766427-11766428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57485078	chr18:11766474-11766475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574919259	chr18:11766478-11766479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142826741	chr18:11766562-11766563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181751684	chr18:11766584-11766585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Acute lymphoblastic leukemia	20435627	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11752800-11767200	Weak transcription	Aorta	Aorta
2	chr18:11752800-11774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:11753000-11767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:11753000-11767200	Weak transcription	Esophagus	oesophagus
5	chr18:11753000-11768000	Weak transcription	HMEC	breast
6	chr18:11753000-11774800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:11753000-11775400	Weak transcription	Gastric	stomach
8	chr18:11754000-11765400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr18:11755000-11765400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:11755200-11765600	Weak transcription	Brain Germinal Matrix	brain
11	chr18:11756600-11769200	Weak transcription	Fetal Brain Female	brain
12	chr18:11758200-11766800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:11758400-11785600	Weak transcription	Brain Anterior Caudate	brain
14	chr18:11761600-11765400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:11761600-11765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:11761600-11766400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:11761600-11766800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:11761800-11766000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:11761800-11767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:11762200-11767000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:11762600-11765600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr18:11763400-11780400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:11764800-11767600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr18:11765000-11768200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:11765200-11767200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr18:11765400-11766000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr18:11765400-11767000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:11765400-11767000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:11765400-11767200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr18:11765600-11765800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr18:11765600-11767200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr18:11765600-11767800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr18:11765800-11766200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:11765800-11768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:11766000-11766200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:11766000-11766400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr18:11766000-11766600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:11766200-11766600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:11766200-11767600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr18:11766400-11767200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr18:11766400-11767800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:11766600-11768000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr18:11766800-11767800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr18:11766800-11767800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:11767000-11767600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr18:11767200-11767400	Genic enhancers	Esophagus	oesophagus
47	chr18:11767200-11767800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr18:11767200-11767800	ZNF genes & repeats	Aorta	Aorta
49	chr18:11767200-11768400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:11767200-11769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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