Variant report

Variant	esv3331077
Chromosome Location	chr18:13007693-13008254
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	CTCF	chr18:13008220-13008370	GM06990	blood:	n/a	n/a
2	POLR2A	chr18:13007857-13008375	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12989546..12991386-chr18:13006007..13008502,2	K562	blood:
2	chr18:12946237..12948654-chr18:13006557..13008669,3	K562	blood:
3	chr18:12946000..12947737-chr18:13006165..13008057,2	K562	blood:

Variant related genes	Relation type
CEP192	TF binding region
ENSG00000266969	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000101639	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577138123	chr18:13007693-13007694	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs143716879	chr18:13007758-13007759	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs73953340	chr18:13007791-13007792	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs530020907	chr18:13007798-13007799	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs7233578	chr18:13007827-13007828	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35637816	chr18:13007829-13007830	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563843741	chr18:13007862-13007863	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs530600403	chr18:13007863-13007864	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs552017796	chr18:13007979-13007980	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs571799198	chr18:13007998-13007999	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs78618052	chr18:13008012-13008013	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs577935724	chr18:13008035-13008036	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs188508484	chr18:13008056-13008057	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs191511094	chr18:13008057-13008058	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs80346716	chr18:13008123-13008124	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs35007947	chr18:13008166-13008167	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs183992909	chr18:13008173-13008174	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs188820695	chr18:13008175-13008176	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs140452063	chr18:13008190-13008191	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs558817390	chr18:13008192-13008193	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs368624089	chr18:13008199-13008200	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs139675031	chr18:13008245-13008246	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs10628855	chr18:13008246-13008247	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs377128113	chr18:13008247-13008248	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs397728453	chr18:13008248-13008249	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:12992800-13008800	Weak transcription	Colonic Mucosa	Colon
3	chr18:12992800-13009200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr18:12992800-13013200	Weak transcription	Fetal Kidney	kidney
5	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr18:12993200-13008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:12993200-13008400	Weak transcription	Osteobl	bone
9	chr18:12993200-13008800	Weak transcription	NHLF	lung
10	chr18:12993400-13008200	Weak transcription	Brain Angular Gyrus	brain
11	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
12	chr18:12993600-13011800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:12993600-13011800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:12993800-13008400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:12993800-13008400	Weak transcription	Psoas Muscle	Psoas
16	chr18:12993800-13008400	Weak transcription	HMEC	breast
17	chr18:12993800-13008800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:12993800-13009200	Weak transcription	NHDF-Ad	bronchial
19	chr18:12995000-13011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:12997000-13008200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:12997000-13008600	Weak transcription	Brain Anterior Caudate	brain
23	chr18:12997000-13008800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:12997200-13011200	Weak transcription	Right Ventricle	heart
25	chr18:12997200-13013200	Weak transcription	Small Intestine	intestine
26	chr18:12997400-13008800	Weak transcription	Pancreas	Pancrea
27	chr18:12997400-13015000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr18:12998400-13041600	Strong transcription	Dnd41	blood
29	chr18:12998600-13008600	Weak transcription	Colon Smooth Muscle	Colon
30	chr18:12998800-13008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:12999000-13007800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:12999000-13008800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr18:12999000-13011800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr18:12999200-13039000	Strong transcription	Fetal Thymus	thymus
35	chr18:12999400-13020800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr18:12999400-13021800	Strong transcription	Primary T cells from cord blood	blood
37	chr18:12999600-13017200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:12999600-13018800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:13000200-13011200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:13000400-13034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:13001600-13008400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:13001600-13008400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr18:13001600-13008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:13001600-13008600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr18:13001800-13008400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:13002000-13008400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr18:13002200-13008400	Weak transcription	HSMM	muscle
48	chr18:13002600-13007800	Weak transcription	Liver	Liver
49	chr18:13002800-13008600	Weak transcription	Placenta	Placenta
50	chr18:13002800-13021200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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