Variant report

Variant	rs72784430
Chromosome Location	chr2:10104917-10104918
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10104880..10106485-chr2:10107006..10109152,2	MCF-7	breast:
2	chr2:10104034..10107226-chr2:10183225..10185834,3	K562	blood:
3	chr2:10097888..10100704-chr2:10102751..10105130,2	MCF-7	breast:
4	chr2:10102444..10109047-chr2:10109192..10115495,9	MCF-7	breast:
5	chr2:10091739..10097867-chr2:10098252..10106254,13	K562	blood:

Variant related genes	Relation type
ENSG00000172059	Chromatin interaction
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11674576	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11690988	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11883961	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11886114	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11886486	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11887890	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11889061	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11902236	0.87[ASN][1000 genomes]
rs11902932	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13401891	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867262	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867266	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17455130	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1897164	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2003911	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2012320	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2116014	0.87[ASN][1000 genomes]
rs2116015	0.87[ASN][1000 genomes]
rs2163336	0.87[ASN][1000 genomes]
rs3791761	0.84[ASN][1000 genomes]
rs3791763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791764	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3828262	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41264205	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59345896	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66920316	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67093290	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6711126	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6716765	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6721359	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67223835	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6725087	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6739827	0.87[ASN][1000 genomes]
rs6749296	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6750565	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6750946	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72784434	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72784441	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72784463	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs730922	0.93[ASN][1000 genomes]
rs73162262	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73162264	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73913937	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73913938	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs891499	0.87[ASN][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	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10092600-10112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:10092600-10113400	Weak transcription	Left Ventricle	heart
3	chr2:10092800-10110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:10093200-10105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:10093200-10110600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:10093600-10112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10094800-10110400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:10095000-10105400	Weak transcription	Pancreas	Pancrea
10	chr2:10095000-10112600	Weak transcription	Hela-S3	cervix
11	chr2:10099000-10110000	Strong transcription	Placenta	Placenta
12	chr2:10099000-10115400	Strong transcription	Liver	Liver
13	chr2:10100000-10105400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:10101000-10113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:10101000-10117000	Strong transcription	HepG2	liver
16	chr2:10101200-10106800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:10101400-10110400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:10101400-10110400	Weak transcription	Fetal Stomach	stomach
19	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
20	chr2:10101600-10110600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:10101600-10113000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:10101600-10116400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
24	chr2:10101800-10114800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:10102000-10105400	Weak transcription	Fetal Brain Female	brain
26	chr2:10102200-10110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:10102400-10116600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:10103800-10105200	Weak transcription	GM12878-XiMat	blood
30	chr2:10104000-10105000	Strong transcription	K562	blood
31	chr2:10104000-10106000	Strong transcription	Dnd41	blood
32	chr2:10104000-10106400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:10104000-10106800	Strong transcription	Esophagus	oesophagus
34	chr2:10104000-10107000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:10104200-10105000	Strong transcription	Lung	lung
36	chr2:10104400-10106000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr2:10104400-10106200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr2:10104600-10105600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:10104600-10105600	Weak transcription	Adipose Nuclei	Adipose
40	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:10104800-10105400	Weak transcription	Fetal Kidney	kidney
42	chr2:10104800-10105600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:10104800-10106200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:10104800-10107200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:10104800-10110600	Weak transcription	Psoas Muscle	Psoas
46	chr2:10104800-10112600	Weak transcription	Fetal Intestine Small	intestine
47	chr2:10104800-10112600	Weak transcription	Gastric	stomach

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