Variant report

Variant	esv3338337
Chromosome Location	chr18:9223152-9227450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9217132..9218663-chr18:9224343..9226546,2	K562	blood:
2	chr18:9226679..9228840-chr18:9232606..9235189,3	K562	blood:
3	chr18:9216476..9220254-chr18:9222451..9224440,3	K562	blood:
4	chr18:9225362..9227433-chr18:9333364..9335100,2	K562	blood:
5	chr18:9212963..9214485-chr18:9221786..9224318,2	K562	blood:

Variant related genes	Relation type
ENSG00000101745	chromatin interactions
ENSG00000128791	chromatin interactions
ENSG00000264964	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs563244024	chr18:9223169-9223170	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374785042	chr18:9223184-9223185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545544374	chr18:9223205-9223206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368879782	chr18:9223223-9223224	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560332361	chr18:9223229-9223230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71358209	chr18:9223257-9223258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552021032	chr18:9223259-9223260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35340216	chr18:9223269-9223270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546318854	chr18:9223282-9223283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185670951	chr18:9223290-9223291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143585235	chr18:9223312-9223313	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373102487	chr18:9223313-9223314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550307914	chr18:9223321-9223322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569090716	chr18:9223337-9223338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374029362	chr18:9223340-9223341	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539364248	chr18:9223371-9223372	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190183473	chr18:9223374-9223375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182405243	chr18:9223397-9223398	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534270164	chr18:9223413-9223414	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555936808	chr18:9223427-9223428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559259215	chr18:9223432-9223433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574081237	chr18:9223435-9223436	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544550028	chr18:9223436-9223437	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557222808	chr18:9223487-9223488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188208323	chr18:9223514-9223515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs578171944	chr18:9223541-9223542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528250223	chr18:9223548-9223549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548410180	chr18:9223587-9223588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545401963	chr18:9223607-9223608	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560295376	chr18:9223644-9223645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527916942	chr18:9223652-9223653	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568050676	chr18:9223725-9223726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574060257	chr18:9223769-9223770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564286988	chr18:9223826-9223827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539934430	chr18:9223829-9223830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190897035	chr18:9223853-9223854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368227059	chr18:9223871-9223872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528986943	chr18:9223900-9223901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79609621	chr18:9223910-9223911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182850929	chr18:9223921-9223922	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73394141	chr18:9223990-9223991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369950168	chr18:9224024-9224025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369954741	chr18:9224044-9224045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566660774	chr18:9224056-9224057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534027629	chr18:9224059-9224060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75432067	chr18:9224072-9224073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188947444	chr18:9224091-9224092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373488687	chr18:9224098-9224099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556638687	chr18:9224119-9224120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537106787	chr18:9224145-9224146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
2	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
3	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
6	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
7	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
8	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
9	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:9192200-9233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:9192200-9284000	Weak transcription	NHEK	skin
13	chr18:9193400-9224800	Weak transcription	Lung	lung
14	chr18:9193400-9230600	Weak transcription	Fetal Stomach	stomach
15	chr18:9199200-9224800	Weak transcription	Fetal Intestine Small	intestine
16	chr18:9201000-9232000	Weak transcription	Brain Substantia Nigra	brain
17	chr18:9201200-9232800	Weak transcription	Gastric	stomach
18	chr18:9202200-9234000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:9202600-9229400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr18:9203400-9228800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:9207600-9226800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr18:9207800-9225200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:9207800-9231000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr18:9208000-9228600	Strong transcription	Liver	Liver
25	chr18:9208400-9227000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:9208800-9226400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr18:9209400-9228200	Strong transcription	Primary B cells from cord blood	blood
28	chr18:9210600-9228000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr18:9210800-9224000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:9210800-9228200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:9211000-9223200	Strong transcription	Adipose Nuclei	Adipose
32	chr18:9211000-9223200	Strong transcription	Dnd41	blood
33	chr18:9211000-9224600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:9211000-9228600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr18:9211200-9231600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr18:9211800-9254800	Weak transcription	NH-A	brain
37	chr18:9212200-9223400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:9212200-9224800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr18:9212200-9254200	Weak transcription	Hela-S3	cervix
40	chr18:9213200-9232200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:9214200-9224400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr18:9214200-9228200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr18:9214200-9228600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr18:9214200-9231200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr18:9214400-9224000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr18:9214400-9224600	Strong transcription	Fetal Intestine Large	intestine
47	chr18:9214400-9226600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr18:9214600-9225600	Weak transcription	A549	lung
49	chr18:9214800-9232000	Weak transcription	HSMMtube	muscle
50	chr18:9215000-9223200	Strong transcription	GM12878-XiMat	blood

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