Variant report

Variant	esv3693247
Chromosome Location	chr18:7109600-7112142
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:

Extended variants
information (count: 99 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	rs58314173	chr18:7109614-7109615	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	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
4	rs554354319	chr18:7109680-7109681	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs185366085	chr18:7109693-7109694	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs573083901	chr18:7109699-7109700	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs545272820	chr18:7109725-7109726	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs545067474	chr18:7109730-7109731	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs11283980	chr18:7109799-7109800	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs564768539	chr18:7109864-7109865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114923276	chr18:7109904-7109905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202219618	chr18:7109911-7109912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571866973	chr18:7109945-7109946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370462918	chr18:7109979-7109980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147539695	chr18:7110023-7110024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529465953	chr18:7110048-7110049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549337354	chr18:7110051-7110052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148607125	chr18:7110073-7110074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540856341	chr18:7110095-7110096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574206234	chr18:7110136-7110137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1841793	chr18:7110139-7110140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367821327	chr18:7110168-7110169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79264358	chr18:7110193-7110194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58053263	chr18:7110204-7110205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543389691	chr18:7110206-7110207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116387274	chr18:7110207-7110208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151169021	chr18:7110238-7110239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532266709	chr18:7110305-7110306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536722840	chr18:7110385-7110386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs58051284	chr18:7110399-7110400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139116402	chr18:7110405-7110406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538558921	chr18:7110436-7110437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536932965	chr18:7110500-7110501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558775702	chr18:7110618-7110619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574907392	chr18:7110619-7110620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543775718	chr18:7110653-7110654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189426544	chr18:7110760-7110761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560523718	chr18:7110786-7110787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574224595	chr18:7110822-7110823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34362215	chr18:7110873-7110874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386800827	chr18:7110882-7110883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557035406	chr18:7110883-7110884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113488980	chr18:7110887-7110888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs67912579	chr18:7110888-7110889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397858505	chr18:7110896-7110897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571880096	chr18:7110918-7110919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111992689	chr18:7110972-7110973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61061510	chr18:7110973-7110974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555761546	chr18:7110987-7110988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184100336	chr18:7111022-7111023	Enhancers Weak transcription Flanking Active TSS	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7089600-7111000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:7096400-7111000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:7100600-7111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:7105000-7116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:7106400-7110800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:7108000-7113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr18:7108800-7109800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:7108800-7111600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:7109000-7109800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:7109000-7109800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:7109000-7113400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr18:7109200-7109800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr18:7109200-7109800	Bivalent Enhancer	Brain Hippocampus Middle	brain
14	chr18:7109400-7109600	Enhancers	Fetal Kidney	kidney
15	chr18:7109400-7111800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:7109400-7113200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:7109600-7114600	Weak transcription	Fetal Kidney	kidney
18	chr18:7109800-7111000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:7109800-7111000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:7109800-7111000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:7109800-7111200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:7110600-7112400	Enhancers	HMEC	breast
23	chr18:7110800-7111800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:7110800-7112600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:7111000-7111400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:7111000-7111600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr18:7111000-7111600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:7111000-7111600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr18:7111000-7111600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr18:7111000-7111800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:7111000-7113800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr18:7111200-7111600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:7111200-7111600	Enhancers	NHEK	skin
34	chr18:7111200-7111800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr18:7111400-7111600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr18:7111400-7111600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:7111400-7111600	Enhancers	Brain Anterior Caudate	brain
38	chr18:7111600-7111800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:7111600-7112200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:7111600-7113000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr18:7111600-7113000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:7111600-7113000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr18:7111600-7113200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr18:7111600-7116000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr18:7111800-7112000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr18:7111800-7112200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:7111800-7113000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr18:7111800-7113400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr18:7111800-7116000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:7112000-7112400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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