Variant report

Variant	rs72809838
Chromosome Location	chr2:97428320-97428321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
2	chr2:97428068..97433025-chr2:97480948..97483596,5	MCF-7	breast:
3	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
4	chr2:97428087..97429721-chr2:97438837..97440934,2	K562	blood:
5	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
6	chr2:97426745..97429493-chr2:97493340..97495541,2	K562	blood:
7	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
8	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
9	chr2:97426655..97429624-chr2:97455358..97458056,3	MCF-7	breast:
10	chr2:97279569..97281862-chr2:97427106..97429462,3	K562	blood:
11	chr2:97426686..97428593-chr2:97451659..97454147,2	MCF-7	breast:
12	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
13	chr2:97426951..97430743-chr2:97481056..97485164,3	K562	blood:
14	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
15	chr11:808341..811136-chr2:97426419..97428883,2	K562	blood:
16	chr2:97427163..97431078-chr2:97448758..97451089,3	MCF-7	breast:
17	chr2:97426560..97429669-chr2:97487357..97491316,3	MCF-7	breast:
18	chr2:97301517..97305285-chr2:97426115..97429843,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000177595	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000177600	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2271893	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2314398	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4619651	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56351161	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56361249	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58361269	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6746896	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67570263	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72809820	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72809827	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7599624	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97426200-97430400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:97426400-97429800	Active TSS	HSMMtube	muscle
3	chr2:97426800-97428600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:97426800-97429600	Flanking Active TSS	Fetal Muscle Trunk	muscle
5	chr2:97426800-97430000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr2:97426800-97430000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr2:97426800-97430400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr2:97426800-97430400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr2:97426800-97430400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr2:97426800-97430400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:97426800-97430400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr2:97426800-97430400	Flanking Active TSS	Esophagus	oesophagus
13	chr2:97426800-97430400	Flanking Active TSS	Dnd41	blood
14	chr2:97426800-97430600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr2:97426800-97430600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr2:97426800-97430600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:97426800-97430600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:97426800-97430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:97426800-97430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:97427000-97428400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr2:97427000-97428400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr2:97427000-97428800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:97427000-97428800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:97427000-97428800	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr2:97427000-97429400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr2:97427000-97429400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:97427000-97429600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:97427000-97429800	Flanking Active TSS	Right Ventricle	heart
29	chr2:97427000-97430000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:97427000-97430000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr2:97427000-97430000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:97427000-97430000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr2:97427000-97430000	Flanking Active TSS	Pancreas	Pancrea
34	chr2:97427000-97430000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr2:97427000-97430200	Flanking Active TSS	Fetal Stomach	stomach
36	chr2:97427000-97430200	Flanking Active TSS	A549	lung
37	chr2:97427000-97430200	Flanking Active TSS	NHEK	skin
38	chr2:97427000-97430400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr2:97427000-97430400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr2:97427000-97430400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:97427000-97430400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:97427000-97430400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr2:97427000-97430400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr2:97427000-97430400	Flanking Active TSS	Hela-S3	cervix
45	chr2:97427000-97430600	Flanking Active TSS	K562	blood
46	chr2:97427000-97430600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:97427200-97428400	Flanking Active TSS	Stomach Mucosa	stomach
48	chr2:97427200-97428600	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr2:97427200-97429000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:97427200-97429200	Flanking Active TSS	NHDF-Ad	bronchial

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