Variant report

Variant	esv3316453
Chromosome Location	chr18:8371921-8372477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:8372463-8372470	K562	blood:	n/a	n/a
2	FOS	chr18:8372383-8372513	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr18:8372382-8372583	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr18:8372326-8372640	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr18:8372383-8372491	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr18:8372311-8372546	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000266149	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576850974	chr18:8371960-8371961	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189295468	chr18:8371983-8371984	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556225194	chr18:8371998-8371999	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148362171	chr18:8372041-8372042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577798212	chr18:8372047-8372048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557766971	chr18:8372072-8372073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62086573	chr18:8372083-8372084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373147452	chr18:8372089-8372090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545054394	chr18:8372113-8372114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143208196	chr18:8372124-8372125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527435245	chr18:8372131-8372132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371706696	chr18:8372156-8372157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551604734	chr18:8372166-8372167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542466149	chr18:8372214-8372215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561225241	chr18:8372219-8372220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531546670	chr18:8372224-8372225	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553777894	chr18:8372230-8372231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375992588	chr18:8372294-8372295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571339326	chr18:8372318-8372319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192696741	chr18:8372319-8372320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547839504	chr18:8372323-8372324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566042592	chr18:8372324-8372325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536845505	chr18:8372337-8372338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185709814	chr18:8372368-8372369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189838996	chr18:8372369-8372370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573826017	chr18:8372377-8372378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570344669	chr18:8372403-8372404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1266140	chr18:8372418-8372419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182056727	chr18:8372471-8372472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147537207	chr18:8372473-8372474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
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
Lung cancer	18438408	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
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8352600-8372600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr18:8355200-8378200	Weak transcription	Gastric	stomach
3	chr18:8358400-8378200	Weak transcription	HepG2	liver
4	chr18:8364200-8375800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:8365400-8378200	Weak transcription	Colon Smooth Muscle	Colon
6	chr18:8366600-8375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:8367600-8375800	Weak transcription	Lung	lung
8	chr18:8367600-8376400	Weak transcription	Right Ventricle	heart
9	chr18:8367600-8377800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:8367600-8378000	Weak transcription	Pancreas	Pancrea
11	chr18:8367600-8378200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:8367600-8378200	Weak transcription	Spleen	Spleen
13	chr18:8367600-8378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:8367600-8378600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:8367600-8378800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:8367600-8380800	Weak transcription	NH-A	brain
17	chr18:8367600-8394600	Weak transcription	Small Intestine	intestine
18	chr18:8367800-8372800	Weak transcription	Fetal Brain Female	brain
19	chr18:8367800-8373200	Weak transcription	Adipose Nuclei	Adipose
20	chr18:8367800-8373200	Weak transcription	Left Ventricle	heart
21	chr18:8367800-8375200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr18:8367800-8375400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr18:8367800-8376400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:8367800-8378000	Weak transcription	Aorta	Aorta
25	chr18:8367800-8378000	Weak transcription	Brain Hippocampus Middle	brain
26	chr18:8367800-8378200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr18:8367800-8378200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr18:8367800-8378200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:8367800-8378400	Weak transcription	Brain Anterior Caudate	brain
30	chr18:8367800-8378400	Weak transcription	Fetal Thymus	thymus
31	chr18:8367800-8378600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr18:8367800-8378600	Weak transcription	Thymus	Thymus
33	chr18:8367800-8378800	Weak transcription	Placenta	Placenta
34	chr18:8367800-8379400	Weak transcription	Psoas Muscle	Psoas
35	chr18:8367800-8380200	Weak transcription	Liver	Liver
36	chr18:8367800-8380200	Weak transcription	HSMM	muscle
37	chr18:8367800-8381400	Weak transcription	Brain Substantia Nigra	brain
38	chr18:8367800-8382000	Weak transcription	Brain Germinal Matrix	brain
39	chr18:8367800-8382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:8367800-8385400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr18:8367800-8398600	Weak transcription	NHLF	lung
42	chr18:8368000-8374600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr18:8368000-8378200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr18:8368000-8378400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr18:8368000-8394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr18:8368600-8378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:8368800-8378200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:8368800-8378200	Weak transcription	Fetal Muscle Leg	muscle
50	chr18:8369000-8374400	Weak transcription	Fetal Kidney	kidney

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