Variant report

Variant	esv3347817
Chromosome Location	chr18:9448177-9450725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9449073..9451585-chr18:9475449..9477255,2	MCF-7	breast:
2	chr18:9442961..9446993-chr18:9449130..9451734,3	K562	blood:
3	chr18:9447884..9450414-chr18:9473924..9476785,2	MCF-7	breast:
4	chr18:9448423..9451642-chr18:9452565..9457237,4	K562	blood:
5	chr18:9448423..9450289-chr18:9452565..9456767,3	K562	blood:
6	chr18:9450353..9452789-chr18:9457318..9459347,2	K562	blood:

Variant related genes	Relation type
ENSG00000017797	chromatin interactions
ENSG00000273335	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62086076	chr18:9448181-9448182	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548202661	chr18:9448217-9448218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75151502	chr18:9448258-9448259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543623311	chr18:9448291-9448292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537760107	chr18:9448293-9448294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563537050	chr18:9448303-9448304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371271028	chr18:9448309-9448310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs571073629	chr18:9448342-9448343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs144793142	chr18:9448357-9448358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7233885	chr18:9448360-9448361	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs4510093	chr18:9448368-9448369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553944294	chr18:9448407-9448408	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7235785	chr18:9448427-9448428	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs536325378	chr18:9448484-9448485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372190389	chr18:9448493-9448494	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528054590	chr18:9448576-9448577	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575905814	chr18:9448589-9448590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs1462979	chr18:9448636-9448637	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187738270	chr18:9448690-9448691	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143357690	chr18:9448705-9448706	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs148347479	chr18:9448817-9448818	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559096702	chr18:9448821-9448822	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140742244	chr18:9448822-9448823	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs192529747	chr18:9448838-9448839	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183923082	chr18:9448851-9448852	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563706096	chr18:9448858-9448859	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs1462980	chr18:9448934-9448935	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552873585	chr18:9448967-9448968	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571146000	chr18:9448984-9448985	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528724747	chr18:9449003-9449004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs73393817	chr18:9449028-9449029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201780013	chr18:9449114-9449115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200244588	chr18:9449116-9449117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs71168059	chr18:9449121-9449122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372428953	chr18:9449161-9449162	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373383299	chr18:9449170-9449171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377453367	chr18:9449173-9449174	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370984268	chr18:9449178-9449179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376077663	chr18:9449180-9449181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568634128	chr18:9449187-9449188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12954771	chr18:9449197-9449198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs12458667	chr18:9449206-9449207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs12458668	chr18:9449213-9449214	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369172572	chr18:9449223-9449224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375499439	chr18:9449230-9449231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12458671	chr18:9449232-9449233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs377601109	chr18:9449234-9449235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201420016	chr18:9449239-9449240	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs570185240	chr18:9449248-9449249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374429548	chr18:9449254-9449255	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Lung cancer	18438408	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9446800-9453800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:9448600-9449000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:9448800-9450800	Enhancers	Fetal Muscle Leg	muscle
4	chr18:9449000-9449600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:9449400-9449600	Enhancers	K562	blood
6	chr18:9449600-9449800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:9449600-9449800	Flanking Active TSS	K562	blood
8	chr18:9449600-9450000	Bivalent Enhancer	HepG2	liver
9	chr18:9449600-9450200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:9449600-9450800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:9449800-9450000	Enhancers	K562	blood
12	chr18:9449800-9450200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr18:9450000-9450200	Flanking Active TSS	HepG2	liver
14	chr18:9450000-9450200	Flanking Active TSS	K562	blood
15	chr18:9450000-9450400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:9450000-9450400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:9450000-9450400	Enhancers	Fetal Brain Female	brain
18	chr18:9450200-9450400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:9450200-9450600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:9450200-9450600	Enhancers	K562	blood
21	chr18:9450200-9450800	Enhancers	HepG2	liver
22	chr18:9450200-9451000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:9450200-9453600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr18:9450400-9450800	Enhancers	Fetal Brain Male	brain
25	chr18:9450400-9453400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:9450400-9453600	Weak transcription	Fetal Brain Female	brain
27	chr18:9450400-9453800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:9450600-9453800	Weak transcription	K562	blood

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