Variant report

Variant	esv3333226
Chromosome Location	chr18:11960827-11963125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11950713..11953292-chr18:11962814..11965398,2	K562	blood:
2	chr18:11961487..11963465-chr18:11979793..11981920,2	K562	blood:
3	chr18:11961001..11963298-chr18:11980089..11982172,2	K562	blood:

Variant related genes	Relation type
ENSG00000141401	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551751723	chr18:11960860-11960861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189344664	chr18:11960922-11960923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528328344	chr18:11960971-11960972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541818298	chr18:11960991-11960992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546490595	chr18:11961000-11961001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553790129	chr18:11961030-11961031	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568132226	chr18:11961034-11961035	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535652079	chr18:11961042-11961043	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs137964125	chr18:11961068-11961069	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570116424	chr18:11961074-11961075	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537590988	chr18:11961085-11961086	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368044833	chr18:11961087-11961088	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs58768441	chr18:11961142-11961143	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536540675	chr18:11961143-11961144	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545255297	chr18:11961144-11961145	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572407853	chr18:11961151-11961152	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540521843	chr18:11961159-11961160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552376159	chr18:11961161-11961162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs80045653	chr18:11961163-11961164	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs59731683	chr18:11961164-11961165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553651596	chr18:11961172-11961173	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370484354	chr18:11961175-11961176	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545953913	chr18:11961180-11961181	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs619671	chr18:11961189-11961190	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145809555	chr18:11961190-11961191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148190130	chr18:11961239-11961240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545500831	chr18:11961275-11961276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563689278	chr18:11961284-11961285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113758097	chr18:11961285-11961286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546451742	chr18:11961352-11961353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181843948	chr18:11961353-11961354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186536235	chr18:11961385-11961386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117761951	chr18:11961400-11961401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9957683	chr18:11961428-11961429	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141074088	chr18:11961443-11961444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs8088851	chr18:11961451-11961452	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556278081	chr18:11961476-11961477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367733713	chr18:11961574-11961575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs3974586	chr18:11961575-11961576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544286240	chr18:11961576-11961577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs397842035	chr18:11961591-11961592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539858090	chr18:11961592-11961593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566942413	chr18:11961593-11961594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375067976	chr18:11961594-11961595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570831143	chr18:11961615-11961616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141377564	chr18:11961679-11961680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368293250	chr18:11961687-11961688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371686653	chr18:11961754-11961755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs3048183	chr18:11961766-11961767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553119831	chr18:11961823-11961824	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11952200-11962400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:11952200-11964000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr18:11958000-11962600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:11958600-11962400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:11958800-11962400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:11960600-11961000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr18:11960600-11961200	Enhancers	Hela-S3	cervix
8	chr18:11960600-11961400	Enhancers	HepG2	liver
9	chr18:11960800-11961000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:11960800-11961000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr18:11960800-11961000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:11960800-11961000	Enhancers	Esophagus	oesophagus
13	chr18:11960800-11961000	Enhancers	Placenta	Placenta
14	chr18:11960800-11961200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:11960800-11961200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:11960800-11961200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:11960800-11961200	Enhancers	Pancreas	Pancrea
18	chr18:11960800-11961400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:11960800-11961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:11960800-11961400	Enhancers	K562	blood
21	chr18:11961000-11961200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:11961000-11961200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:11961000-11961200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:11961000-11962200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:11961000-11962400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:11961000-11962400	Weak transcription	NHEK	skin
27	chr18:11961000-11963800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:11961200-11962200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:11961200-11962200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:11961200-11962200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:11961200-11962200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:11961200-11962400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:11961200-11962400	Weak transcription	Hela-S3	cervix
34	chr18:11961200-11972400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:11961400-11962200	Weak transcription	Esophagus	oesophagus
36	chr18:11961400-11962400	Weak transcription	HepG2	liver
37	chr18:11961400-11962400	Weak transcription	K562	blood
38	chr18:11961400-11963800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:11962200-11962400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:11962200-11963000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:11962200-11963000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr18:11962200-11963000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:11962200-11963000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr18:11962200-11963000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:11962200-11963000	Enhancers	Esophagus	oesophagus
46	chr18:11962200-11964400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr18:11962200-11964600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:11962200-11965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:11962400-11962800	Enhancers	Fetal Stomach	stomach
50	chr18:11962400-11962800	Flanking Active TSS	Hela-S3	cervix

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