Variant report

Variant	nsv978602
Chromosome Location	chr18:11699589-11729341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:11654743..11655947-chr18:11727618..11729060,12	MCF-7	breast:
2	chr18:11655236..11655924-chr18:11727968..11728476,2	K562	blood:
3	chr18:11699500..11701594-chr18:11719121..11721912,2	K562	blood:
4	chr18:11699500..11701594-chr18:11719121..11721912,2	K562	blood:
5	chr18:11656418..11657368-chr18:11727926..11728839,2	MCF-7	breast:
6	chr18:11712862..11715644-chr18:11719873..11722233,2	K562	blood:
7	chr18:11655089..11656096-chr18:11727971..11728882,3	MCF-7	breast:
8	chr18:11712862..11715644-chr18:11719873..11722233,2	K562	blood:
9	chr18:11722946..11725127-chr18:11739025..11740828,2	MCF-7	breast:
10	chr18:11707724..11709378-chr18:11741039..11743864,2	K562	blood:
11	chr18:11723410..11725027-chr18:11907709..11910181,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154889	chromatin interactions
ENSG00000273141	chromatin interactions

Extended variants
information (count: 1194 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1194 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35549844	chr18:11699594-11699595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181106224	chr18:11699652-11699653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139790549	chr18:11699654-11699655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs606480	chr18:11699672-11699673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529039208	chr18:11699715-11699716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529601096	chr18:11699745-11699746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113672533	chr18:11699763-11699764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568921872	chr18:11699794-11699795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532950181	chr18:11699811-11699812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551538573	chr18:11699812-11699813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559560155	chr18:11699826-11699827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111811211	chr18:11699845-11699846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116965112	chr18:11699866-11699867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143557083	chr18:11699872-11699873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113851615	chr18:11699895-11699896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185759044	chr18:11699896-11699897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190377568	chr18:11699901-11699902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575269368	chr18:11699911-11699912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113432608	chr18:11699921-11699922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59863423	chr18:11699943-11699944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557702349	chr18:11699947-11699948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367759718	chr18:11700027-11700028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113664128	chr18:11700070-11700071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540329181	chr18:11700089-11700090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533177212	chr18:11700143-11700144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371284139	chr18:11700168-11700169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374765581	chr18:11700203-11700204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145347557	chr18:11700224-11700225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73944238	chr18:11700236-11700237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149179141	chr18:11700246-11700247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563162744	chr18:11700281-11700282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142409590	chr18:11700285-11700286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537054272	chr18:11700368-11700369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530506687	chr18:11700374-11700375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551410154	chr18:11700380-11700381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200568650	chr18:11700381-11700382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372114599	chr18:11700392-11700393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566302282	chr18:11700406-11700407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367980401	chr18:11700407-11700408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527381270	chr18:11700418-11700419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548800197	chr18:11700481-11700482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1013459	chr18:11700534-11700535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537628147	chr18:11700535-11700536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78735005	chr18:11700556-11700557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571230409	chr18:11700567-11700568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567414952	chr18:11700581-11700582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117733201	chr18:11700614-11700615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142090554	chr18:11700637-11700638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201934384	chr18:11700649-11700650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397699045	chr18:11700651-11700652	Weak transcription	n/a	n/a	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
abnormal development	18461090	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11690400-11713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:11696200-11713600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:11697400-11707800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:11697400-11727000	Weak transcription	Esophagus	oesophagus
5	chr18:11698000-11715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:11701600-11702000	Enhancers	Fetal Thymus	thymus
7	chr18:11701600-11702400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:11701800-11702400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:11702200-11702400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr18:11702400-11708800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:11702400-11712000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:11707600-11708200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr18:11707800-11708600	Enhancers	Adipose Nuclei	Adipose
14	chr18:11707800-11709000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:11708800-11709200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:11709000-11712000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:11711600-11714200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr18:11711800-11712400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr18:11711800-11714000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:11712000-11712200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr18:11712000-11712400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr18:11712000-11712400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:11712000-11714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr18:11712000-11714400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:11712200-11712600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr18:11712200-11714200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:11712400-11713400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:11712800-11713200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr18:11713200-11713600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr18:11713400-11714800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:11713600-11713800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr18:11713600-11714200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr18:11713600-11715000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr18:11713600-11715000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:11713800-11714000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr18:11713800-11714000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr18:11713800-11714000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr18:11713800-11714000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr18:11713800-11714200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr18:11713800-11714200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr18:11713800-11714800	Active TSS	HMEC	breast
42	chr18:11714000-11714400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:11714000-11714400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr18:11714000-11714400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:11714000-11714600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr18:11714000-11714600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr18:11714000-11714600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr18:11714000-11714800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr18:11714200-11714400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr18:11714200-11714400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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