Variant report

Variant	rs73587066
Chromosome Location	chr14:20910031-20910032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20903145..20905487-chr14:20907982..20910310,2	MCF-7	breast:
2	chr14:20909169..20911213-chr14:20941406..20943878,3	K562	blood:
3	chr14:20884078..20886716-chr14:20908753..20911115,2	MCF-7	breast:
4	chr14:20889670..20891239-chr14:20909133..20911856,2	MCF-7	breast:
5	chr14:20909090..20914535-chr14:20922400..20926158,5	K562	blood:
6	chr14:20909169..20911213-chr14:20942132..20943878,2	K562	blood:

Variant related genes	Relation type
ENSG00000198805	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000185271	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17109446	1.00[EUR][1000 genomes]
rs17111755	1.00[EUR][1000 genomes]
rs17111837	1.00[EUR][1000 genomes]
rs2163091	1.00[EUR][1000 genomes]
rs7141182	1.00[EUR][1000 genomes]
rs73587040	1.00[EUR][1000 genomes]
rs73587041	1.00[EUR][1000 genomes]
rs73587065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs938885	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20899000-20913600	Weak transcription	Gastric	stomach
2	chr14:20899000-20913800	Weak transcription	Pancreas	Pancrea
3	chr14:20903000-20910200	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:20903400-20913800	Weak transcription	HSMMtube	muscle
5	chr14:20903800-20912800	Weak transcription	Colonic Mucosa	Colon
6	chr14:20904000-20910800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:20904000-20913200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:20904000-20913400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:20904000-20913800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:20904000-20913800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:20904000-20913800	Weak transcription	Left Ventricle	heart
12	chr14:20904000-20914000	Weak transcription	Esophagus	oesophagus
13	chr14:20904000-20914000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:20904200-20912600	Weak transcription	Brain Anterior Caudate	brain
15	chr14:20904200-20913200	Weak transcription	Brain Angular Gyrus	brain
16	chr14:20904200-20913200	Weak transcription	Brain Substantia Nigra	brain
17	chr14:20904200-20913400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:20904200-20914000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:20904400-20910600	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:20904400-20913800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:20904400-20913800	Weak transcription	Right Ventricle	heart
22	chr14:20904400-20915000	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:20904600-20913400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:20904600-20913600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:20904600-20914000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:20904600-20914000	Weak transcription	Ovary	ovary
27	chr14:20904600-20914000	Weak transcription	HMEC	breast
28	chr14:20904600-20914000	Weak transcription	NH-A	brain
29	chr14:20904800-20910400	Enhancers	Primary B cells from cord blood	blood
30	chr14:20905000-20914400	Weak transcription	Hela-S3	cervix
31	chr14:20905200-20913200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:20905200-20913800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:20905400-20910800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:20905400-20912400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:20905400-20913200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:20905600-20912000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:20905600-20913200	Weak transcription	Osteobl	bone
38	chr14:20905600-20913800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:20906800-20913600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:20906800-20914000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:20906800-20914600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:20907000-20913400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:20908200-20910400	Enhancers	Spleen	Spleen
44	chr14:20908200-20913000	Weak transcription	Fetal Stomach	stomach
45	chr14:20908200-20913400	Weak transcription	HSMM	muscle
46	chr14:20908400-20910400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr14:20908400-20910400	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:20908400-20910400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:20908400-20910400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr14:20908600-20910200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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