Variant report

Variant	rs72744226
Chromosome Location	chr9:108012758-108012759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108005558..108008995-chr9:108010064..108014248,9	MCF-7	breast:
2	chr9:108011317..108013962-chr9:108054613..108056350,2	MCF-7	breast:
3	chr9:108011346..108013959-chr9:108015569..108017411,2	MCF-7	breast:
4	chr9:108006564..108010979-chr9:108011940..108017474,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070214	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10122513	0.84[EUR][1000 genomes]
rs55659643	1.00[AMR][1000 genomes]
rs6479301	0.84[EUR][1000 genomes]
rs6479302	0.84[EUR][1000 genomes]
rs72742520	1.00[AMR][1000 genomes]
rs72742522	1.00[AMR][1000 genomes]
rs72742551	1.00[AMR][1000 genomes]
rs72744219	0.84[EUR][1000 genomes]
rs72744222	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72744225	0.84[EUR][1000 genomes]
rs72744228	1.00[AMR][1000 genomes]
rs7847744	0.84[EUR][1000 genomes]
rs7847952	0.84[EUR][1000 genomes]
rs7849463	0.84[EUR][1000 genomes]
rs7857088	0.84[EUR][1000 genomes]
rs7860356	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046935	chr9:107414720-108028061	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv893691	chr9:107994629-108020284	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108008200-108015800	Weak transcription	Gastric	stomach
2	chr9:108008200-108015800	Weak transcription	Pancreas	Pancrea
3	chr9:108008200-108033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:108008400-108019400	Weak transcription	Left Ventricle	heart
5	chr9:108008400-108020000	Weak transcription	Primary T cells from cord blood	blood
6	chr9:108008600-108015800	Weak transcription	Colonic Mucosa	Colon
7	chr9:108008600-108020000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:108008800-108022400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:108009000-108037200	Weak transcription	Aorta	Aorta
10	chr9:108009200-108017800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr9:108009200-108019400	Weak transcription	Ovary	ovary
12	chr9:108009400-108012800	Enhancers	Fetal Brain Male	brain
13	chr9:108009400-108013200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:108009400-108013400	Enhancers	HepG2	liver
15	chr9:108009400-108013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:108009400-108013800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:108009400-108016600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:108009400-108017600	Weak transcription	NHDF-Ad	bronchial
19	chr9:108009400-108022200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:108009600-108015800	Weak transcription	NHEK	skin
21	chr9:108010000-108016400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:108010200-108013400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:108010200-108013600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:108010200-108013800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:108010200-108013800	Weak transcription	Fetal Brain Female	brain
26	chr9:108010200-108013800	Weak transcription	A549	lung
27	chr9:108010200-108016600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr9:108010200-108019800	Weak transcription	Right Atrium	heart
29	chr9:108010400-108013200	Weak transcription	Fetal Intestine Small	intestine
30	chr9:108010400-108013400	Weak transcription	Fetal Intestine Large	intestine
31	chr9:108010400-108013600	Weak transcription	Small Intestine	intestine
32	chr9:108010400-108026200	Weak transcription	Hela-S3	cervix
33	chr9:108010800-108019600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:108011400-108022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:108011600-108012800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr9:108011600-108013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:108011600-108013400	Weak transcription	Liver	Liver
38	chr9:108011600-108013400	Weak transcription	Brain Angular Gyrus	brain
39	chr9:108011600-108013400	Weak transcription	Brain Germinal Matrix	brain
40	chr9:108011600-108013600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr9:108011600-108013600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:108011600-108017000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:108011600-108019400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr9:108011600-108020000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:108011600-108021800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:108011600-108031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:108011800-108012800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:108011800-108012800	Weak transcription	Brain Anterior Caudate	brain
49	chr9:108011800-108012800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr9:108011800-108013000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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