Variant report

Variant	rs2814387
Chromosome Location	chr6:80273293-80273294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80270471..80272180-chr6:80272738..80275270,2	K562	blood:
2	chr6:80271060..80273432-chr6:80275931..80278481,2	K562	blood:
3	chr6:80271569..80273432-chr6:80276981..80278496,2	K562	blood:
4	chr6:80268154..80270191-chr6:80271726..80274715,2	K562	blood:
5	chr6:80265289..80267269-chr6:80272015..80273639,2	K562	blood:

Variant related genes	Relation type
ENSG00000272137	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1385533	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1385535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1485368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1827627	0.87[AFR][1000 genomes]
rs1847499	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875846	1.00[EUR][1000 genomes]
rs2575199	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655702	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2803187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2803196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2803198	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2812693	0.81[AFR][1000 genomes]
rs2814374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56010310	1.00[EUR][1000 genomes]
rs9448702	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80254600-80273800	Weak transcription	Stomach Mucosa	stomach
2	chr6:80255000-80280000	Weak transcription	Aorta	Aorta
3	chr6:80255600-80279400	Weak transcription	HMEC	breast
4	chr6:80255600-80280000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:80255800-80275400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:80256000-80280600	Weak transcription	Adipose Nuclei	Adipose
7	chr6:80257400-80278600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:80257400-80278600	Weak transcription	Fetal Kidney	kidney
9	chr6:80257600-80274200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:80257800-80277800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:80258600-80279200	Weak transcription	Fetal Lung	lung
12	chr6:80260600-80274400	Weak transcription	Fetal Brain Female	brain
13	chr6:80260600-80278600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:80260800-80275400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:80260800-80280200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:80260800-80280200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:80260800-80280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:80260800-80283000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:80261800-80280200	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:80263200-80280200	Weak transcription	Brain Anterior Caudate	brain
21	chr6:80268000-80279600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:80268000-80280200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:80268400-80280200	Weak transcription	Fetal Stomach	stomach
24	chr6:80268800-80279200	Weak transcription	HepG2	liver
25	chr6:80270200-80280200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:80271600-80278600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:80271600-80279200	Weak transcription	HSMM	muscle
28	chr6:80273200-80275000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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