Variant report

Variant	esv3435828
Chromosome Location	chr18:12468752-12470800
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	chr18:12463744..12466333-chr18:12470245..12472659,2	K562	blood:
2	chr18:12469862..12472463-chr18:12473454..12475664,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567338064	chr18:12468754-12468755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190109020	chr18:12468784-12468785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545413265	chr18:12468795-12468796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34813594	chr18:12468815-12468816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556144538	chr18:12468839-12468840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577531581	chr18:12468873-12468874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181755816	chr18:12468889-12468890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538934146	chr18:12468930-12468931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147401690	chr18:12468937-12468938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139987632	chr18:12469032-12469033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142846065	chr18:12469035-12469036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12968369	chr18:12469049-12469050	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs574058192	chr18:12469069-12469070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544352717	chr18:12469100-12469101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184738540	chr18:12469160-12469161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567065176	chr18:12469203-12469204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151041986	chr18:12469214-12469215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551663127	chr18:12469269-12469270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560412673	chr18:12469295-12469296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527912935	chr18:12469311-12469312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139673527	chr18:12469377-12469378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567728426	chr18:12469442-12469443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189646943	chr18:12469524-12469525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180859019	chr18:12469572-12469573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539192402	chr18:12469666-12469667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558732005	chr18:12469673-12469674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372777303	chr18:12469691-12469692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575296934	chr18:12469740-12469741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185411058	chr18:12469759-12469760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554148270	chr18:12469787-12469788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190852761	chr18:12469798-12469799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536478576	chr18:12469828-12469829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75654567	chr18:12469856-12469857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554825604	chr18:12469928-12469929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576124507	chr18:12469993-12469994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377186671	chr18:12470006-12470007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181187912	chr18:12470057-12470058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562796122	chr18:12470135-12470136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186369447	chr18:12470175-12470176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543662012	chr18:12470202-12470203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544984031	chr18:12470216-12470217	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191675310	chr18:12470232-12470233	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553936572	chr18:12470245-12470246	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1628922	chr18:12470273-12470274	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549228470	chr18:12470293-12470294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183031333	chr18:12470304-12470305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187750264	chr18:12470357-12470358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549893668	chr18:12470397-12470398	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191001662	chr18:12470487-12470488	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571245083	chr18:12470553-12470554	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
3	chr18:12444600-12477600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:12446200-12479600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:12449600-12470600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr18:12449600-12477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:12449800-12470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:12449800-12477600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr18:12449800-12477600	Weak transcription	Spleen	Spleen
10	chr18:12449800-12477800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:12449800-12478000	Weak transcription	Gastric	stomach
12	chr18:12449800-12478000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr18:12449800-12479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr18:12450000-12478200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:12453400-12484400	Weak transcription	Hela-S3	cervix
16	chr18:12456800-12477400	Weak transcription	Fetal Kidney	kidney
17	chr18:12457800-12470400	Weak transcription	Fetal Brain Male	brain
18	chr18:12457800-12477600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr18:12459600-12477600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:12459600-12478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:12460200-12478200	Weak transcription	NH-A	brain
22	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr18:12460400-12477600	Weak transcription	Lung	lung
24	chr18:12460400-12478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:12461000-12470200	Weak transcription	Brain Angular Gyrus	brain
26	chr18:12461200-12470200	Weak transcription	NHEK	skin
27	chr18:12461200-12478200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:12461200-12481200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr18:12461400-12477600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr18:12461600-12470400	Weak transcription	HSMM	muscle
32	chr18:12461600-12477600	Weak transcription	Liver	Liver
33	chr18:12461800-12477600	Weak transcription	Colon Smooth Muscle	Colon
34	chr18:12461800-12478200	Weak transcription	HepG2	liver
35	chr18:12461800-12479800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr18:12462800-12470600	Weak transcription	Brain Substantia Nigra	brain
37	chr18:12463200-12470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:12463200-12477600	Weak transcription	NHLF	lung
39	chr18:12463400-12477000	Weak transcription	Fetal Lung	lung
40	chr18:12463400-12480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
42	chr18:12463600-12477000	Weak transcription	Placenta	Placenta
43	chr18:12464200-12474200	Weak transcription	HUVEC	blood vessel
44	chr18:12465000-12474800	Weak transcription	Osteobl	bone
45	chr18:12465000-12477600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:12465000-12491400	Weak transcription	NHDF-Ad	bronchial
47	chr18:12465200-12469800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:12465200-12470400	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:12465200-12470400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr18:12465200-12470400	Weak transcription	HMEC	breast

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