Variant report

Variant	rs6759784
Chromosome Location	chr2:47009135-47009136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47006608..47009505-chr2:47024005..47026288,2	K562	blood:
2	chr2:46842690..46844852-chr2:47008012..47010268,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119878	Chromatin interaction
ENSG00000151665	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10164807	1.00[AMR][1000 genomes]
rs10172110	1.00[AMR][1000 genomes]
rs10189994	1.00[AMR][1000 genomes]
rs10190001	1.00[AMR][1000 genomes]
rs10190187	1.00[AMR][1000 genomes]
rs11125088	1.00[AMR][1000 genomes]
rs13399713	1.00[AMR][1000 genomes]
rs13402553	1.00[AMR][1000 genomes]
rs13418951	1.00[AMR][1000 genomes]
rs28702871	1.00[AMR][1000 genomes]
rs41409850	1.00[AMR][1000 genomes]
rs41483445	1.00[AMR][1000 genomes]
rs6711782	1.00[AMR][1000 genomes]
rs6714964	1.00[AMR][1000 genomes]
rs6716072	1.00[AMR][1000 genomes]
rs6760403	1.00[AMR][1000 genomes]
rs73926574	1.00[AMR][1000 genomes]
rs73926585	1.00[AMR][1000 genomes]
rs7566758	1.00[AMR][1000 genomes]
rs7573534	1.00[AMR][1000 genomes]
rs9807932	1.00[AMR][1000 genomes]
rs9808073	1.00[AMR][1000 genomes]
rs9808427	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47005200-47009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:47005200-47010000	Enhancers	Fetal Lung	lung
3	chr2:47005400-47009200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:47005400-47009200	Enhancers	NHLF	lung
5	chr2:47005400-47009400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:47005400-47012400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:47005600-47009400	Enhancers	Fetal Heart	heart
8	chr2:47005600-47009400	Enhancers	NHDF-Ad	bronchial
9	chr2:47005600-47010000	Enhancers	Left Ventricle	heart
10	chr2:47005800-47009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:47005800-47009800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:47006400-47009800	Enhancers	Fetal Stomach	stomach
13	chr2:47006400-47009800	Enhancers	Right Ventricle	heart
14	chr2:47006600-47009200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr2:47006600-47009200	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:47006600-47009400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:47006600-47009800	Enhancers	Fetal Muscle Leg	muscle
18	chr2:47006600-47009800	Enhancers	Lung	lung
19	chr2:47006600-47009800	Enhancers	Right Atrium	heart
20	chr2:47006800-47009400	Enhancers	Adipose Nuclei	Adipose
21	chr2:47006800-47009400	Enhancers	Placenta	Placenta
22	chr2:47006800-47009800	Enhancers	Spleen	Spleen
23	chr2:47006800-47010000	Enhancers	Psoas Muscle	Psoas
24	chr2:47006800-47010000	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:47007000-47009600	Enhancers	Ovary	ovary
26	chr2:47007000-47009600	Weak transcription	Pancreas	Pancrea
27	chr2:47007400-47010000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:47008000-47009400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:47008000-47009400	Enhancers	Brain Angular Gyrus	brain
30	chr2:47008000-47011800	Weak transcription	A549	lung
31	chr2:47008200-47009800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:47008200-47010000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:47008200-47021000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:47008400-47009800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:47008400-47010000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:47008400-47010800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:47008600-47009200	Weak transcription	Brain Anterior Caudate	brain
38	chr2:47008800-47009800	Enhancers	Colon Smooth Muscle	Colon
39	chr2:47009000-47009400	Enhancers	HUVEC	blood vessel
40	chr2:47009000-47009800	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:47009000-47011800	Weak transcription	Placenta Amnion	Placenta Amnion

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