Variant report

Variant	esv12264
Chromosome Location	chr18:7108710-7113772
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	chr18:7089476..7091194-chr18:7109022..7111374,2	K562	blood:
2	chr18:7113301..7115369-chr18:7117851..7120461,2	K562	blood:

Extended variants
information (count: 193 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs79420336	chr18:7108730-7108731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140924591	chr18:7108839-7108840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114107635	chr18:7108900-7108901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543916004	chr18:7108968-7108969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34433741	chr18:7108999-7109000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573880066	chr18:7109007-7109008	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542947919	chr18:7109011-7109012	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559347127	chr18:7109122-7109123	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115630758	chr18:7109129-7109130	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544651883	chr18:7109181-7109182	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564876718	chr18:7109205-7109206	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs192481520	chr18:7109274-7109275	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs372990426	chr18:7109281-7109282	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs184844895	chr18:7109290-7109291	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs554405390	chr18:7109308-7109309	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs187311967	chr18:7109315-7109316	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs192212078	chr18:7109343-7109344	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs566212844	chr18:7109516-7109517	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs535302246	chr18:7109518-7109519	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs4798532	chr18:7109561-7109562	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4798533	chr18:7109571-7109572	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs537592665	chr18:7109572-7109573	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs557446785	chr18:7109584-7109585	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs4798534	chr18:7109600-7109601	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs58314173	chr18:7109614-7109615	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs12454984	chr18:7109652-7109653	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554354319	chr18:7109680-7109681	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs185366085	chr18:7109693-7109694	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs573083901	chr18:7109699-7109700	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs545272820	chr18:7109725-7109726	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs545067474	chr18:7109730-7109731	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs11283980	chr18:7109799-7109800	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs564768539	chr18:7109864-7109865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114923276	chr18:7109904-7109905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202219618	chr18:7109911-7109912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571866973	chr18:7109945-7109946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370462918	chr18:7109979-7109980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147539695	chr18:7110023-7110024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529465953	chr18:7110048-7110049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549337354	chr18:7110051-7110052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148607125	chr18:7110073-7110074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540856341	chr18:7110095-7110096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574206234	chr18:7110136-7110137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1841793	chr18:7110139-7110140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367821327	chr18:7110168-7110169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79264358	chr18:7110193-7110194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58053263	chr18:7110204-7110205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543389691	chr18:7110206-7110207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116387274	chr18:7110207-7110208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151169021	chr18:7110238-7110239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Urothelial carcinoma	21177765	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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute myeloid leukemia	17377590	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7089600-7111000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:7091400-7109200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr18:7096400-7111000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:7097000-7109400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:7097200-7108800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:7100600-7111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:7102800-7109000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:7105000-7108800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:7105000-7116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:7106200-7109000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:7106400-7110800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:7107800-7109000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:7108000-7113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr18:7108800-7109800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:7108800-7111600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:7109000-7109800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:7109000-7109800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:7109000-7113400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr18:7109200-7109400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:7109200-7109800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr18:7109200-7109800	Bivalent Enhancer	Brain Hippocampus Middle	brain
22	chr18:7109400-7109600	Enhancers	Fetal Kidney	kidney
23	chr18:7109400-7111800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:7109400-7113200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:7109600-7114600	Weak transcription	Fetal Kidney	kidney
26	chr18:7109800-7111000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:7109800-7111000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:7109800-7111000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:7109800-7111200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:7110600-7112400	Enhancers	HMEC	breast
31	chr18:7110800-7111800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:7110800-7112600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:7111000-7111400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:7111000-7111600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr18:7111000-7111600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:7111000-7111600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr18:7111000-7111600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr18:7111000-7111800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:7111000-7113800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr18:7111200-7111600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:7111200-7111600	Enhancers	NHEK	skin
42	chr18:7111200-7111800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr18:7111400-7111600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr18:7111400-7111600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:7111400-7111600	Enhancers	Brain Anterior Caudate	brain
46	chr18:7111600-7111800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:7111600-7112200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:7111600-7113000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr18:7111600-7113000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:7111600-7113000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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