Variant report

Variant	esv3344433
Chromosome Location	chr18:8949252-8953250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8937660..8940609-chr18:8949804..8952310,3	K562	blood:
2	chr18:8945082..8946777-chr18:8948089..8950615,2	K562	blood:
3	chr18:8947840..8949491-chr18:8965150..8966945,2	K562	blood:
4	chr18:8947967..8949488-chr18:9007717..9009702,2	K562	blood:
5	chr18:8944596..8946523-chr18:8951781..8953416,2	K562	blood:

Extended variants
information (count: 163 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs528302972	chr18:8949253-8949254	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs200091683	chr18:8949264-8949265	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs34179238	chr18:8949269-8949270	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs397771903	chr18:8949273-8949274	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs574061587	chr18:8949310-8949311	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs546962329	chr18:8949318-8949319	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs202016036	chr18:8949342-8949343	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs1784770	chr18:8949368-8949369	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs149848746	chr18:8949371-8949372	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs529725744	chr18:8949395-8949396	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs117352846	chr18:8949441-8949442	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs569977735	chr18:8949468-8949469	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs536840923	chr18:8949502-8949503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs181153760	chr18:8949556-8949557	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs570911944	chr18:8949560-8949561	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs535144228	chr18:8949629-8949630	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147717817	chr18:8949631-8949632	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368686592	chr18:8949632-8949633	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553367212	chr18:8949633-8949634	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs386801001	chr18:8949654-8949655	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs60932544	chr18:8949658-8949659	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs58215448	chr18:8949659-8949660	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs530418301	chr18:8949698-8949699	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144916360	chr18:8949701-8949702	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574837025	chr18:8949733-8949734	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535890397	chr18:8949749-8949750	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs56300427	chr18:8949753-8949754	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190936977	chr18:8949787-8949788	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114609205	chr18:8949810-8949811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564364635	chr18:8949908-8949909	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs576497840	chr18:8949957-8949958	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs540711140	chr18:8949965-8949966	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs116531728	chr18:8949977-8949978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529652465	chr18:8949979-8949980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377158247	chr18:8950009-8950010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548206407	chr18:8950021-8950022	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565829140	chr18:8950034-8950035	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs75675376	chr18:8950067-8950068	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530837404	chr18:8950094-8950095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552372450	chr18:8950151-8950152	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570674177	chr18:8950154-8950155	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558840241	chr18:8950197-8950198	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534847725	chr18:8950209-8950210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547113955	chr18:8950215-8950216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568582326	chr18:8950243-8950244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148605337	chr18:8950257-8950258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557331128	chr18:8950286-8950287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114420947	chr18:8950325-8950326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75004080	chr18:8950333-8950334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558066551	chr18:8950339-8950340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8946600-8949800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:8947600-8949400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:8947600-8949800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr18:8947600-8949800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr18:8947600-8949800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:8947600-8950200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:8947600-8950400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:8947600-8950400	Enhancers	Fetal Brain Male	brain
9	chr18:8947800-8949400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr18:8947800-8949800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:8947800-8949800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:8947800-8949800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:8947800-8950000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr18:8947800-8950000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr18:8947800-8950200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr18:8947800-8950400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr18:8947800-8952400	Enhancers	Fetal Thymus	thymus
18	chr18:8947800-8955000	Enhancers	Primary B cells from peripheral blood	blood
19	chr18:8948000-8949600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr18:8948000-8949800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:8948000-8950000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:8948000-8954200	Enhancers	Primary B cells from cord blood	blood
23	chr18:8948200-8949400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:8948200-8949400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:8948200-8949400	Flanking Active TSS	A549	lung
26	chr18:8948200-8949600	Enhancers	Esophagus	oesophagus
27	chr18:8948200-8949600	Flanking Active TSS	HSMM	muscle
28	chr18:8948200-8949800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:8948200-8950000	Flanking Active TSS	NHEK	skin
30	chr18:8948400-8949400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:8948400-8949400	Enhancers	Placenta	Placenta
32	chr18:8948400-8949400	Flanking Active TSS	NH-A	brain
33	chr18:8948400-8949400	Flanking Active TSS	Osteobl	bone
34	chr18:8948400-8949600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr18:8948400-8949600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:8948400-8949600	Flanking Active TSS	HMEC	breast
37	chr18:8948400-8949800	Enhancers	Fetal Muscle Leg	muscle
38	chr18:8948400-8950000	Enhancers	Brain Germinal Matrix	brain
39	chr18:8948400-8950200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr18:8948400-8955600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:8948600-8949400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr18:8948600-8949400	Flanking Active TSS	K562	blood
43	chr18:8948600-8949800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:8948800-8949400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr18:8948800-8949400	Active TSS	Brain Anterior Caudate	brain
46	chr18:8948800-8949600	Flanking Active TSS	HSMMtube	muscle
47	chr18:8948800-8949800	Flanking Active TSS	NHDF-Ad	bronchial
48	chr18:8949000-8949400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:8949000-8949400	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr18:8949000-8949400	Enhancers	Hela-S3	cervix

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