Variant report

Variant	esv3399268
Chromosome Location	chr18:12064473-12064624
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	chr18:12063010..12065990-chr19:13351067..13352603,2	MCF-7	breast:
2	chr18:12057151..12059400-chr18:12062481..12064510,2	K562	blood:

Variant related genes	Relation type
ENSG00000212712	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5823196	chr18:12064482-12064483	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552786002	chr18:12064484-12064485	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535408765	chr18:12064485-12064486	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35815920	chr18:12064494-12064495	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528208716	chr18:12064517-12064518	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368703532	chr18:12064539-12064540	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535946269	chr18:12064541-12064542	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556934041	chr18:12064545-12064546	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374320128	chr18:12064572-12064573	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567682557	chr18:12064596-12064597	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535440468	chr18:12064602-12064603	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs727746	chr18:12064604-12064605	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:56)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12055600-12076400	Weak transcription	Right Atrium	heart
2	chr18:12064400-12064600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:12064400-12064600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
4	chr18:12064400-12064800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:12064400-12064800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:12064400-12064800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:12064600-12064800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr18:12064600-12067000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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