Variant report

Variant	rs4647521
Chromosome Location	chr9:97880852-97880853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:97880574-97881445	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97879282..97881937-chr9:97883733..97887154,4	MCF-7	breast:
2	chr9:97878742..97881350-chr9:97885472..97888296,2	MCF-7	breast:
3	chr9:97876730..97879419-chr9:97879799..97882448,2	MCF-7	breast:
4	chr9:97863799..97866898-chr9:97878535..97880902,4	MCF-7	breast:
5	chr9:97443655..97445355-chr9:97879259..97881935,2	MCF-7	breast:
6	chr9:97880777..97881298-chr9:97889700..97890473,2	MCF-7	breast:
7	chr9:97879438..97881501-chr9:97930611..97932130,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223849	TF binding region
ENSG00000223849	Chromatin interaction
ENSG00000158169	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12683182	0.88[ASN][1000 genomes]
rs12684215	0.88[ASN][1000 genomes]
rs12685903	0.88[ASN][1000 genomes]
rs12686588	0.88[ASN][1000 genomes]
rs1875835	0.88[ASN][1000 genomes]
rs1886993	0.88[ASN][1000 genomes]
rs2121200	0.88[ASN][1000 genomes]
rs2404458	0.88[ASN][1000 genomes]
rs35108112	0.88[ASN][1000 genomes]
rs3780566	0.88[ASN][1000 genomes]
rs4647360	0.88[ASN][1000 genomes]
rs4647367	0.88[ASN][1000 genomes]
rs4647378	0.88[ASN][1000 genomes]
rs4647386	0.88[ASN][1000 genomes]
rs4647397	0.88[ASN][1000 genomes]
rs4647398	0.88[ASN][1000 genomes]
rs4647402	0.88[ASN][1000 genomes]
rs4647405	0.88[ASN][1000 genomes]
rs4647408	0.88[ASN][1000 genomes]
rs4647414	0.88[ASN][1000 genomes]
rs4647436	0.88[ASN][1000 genomes]
rs4647437	0.88[ASN][1000 genomes]
rs4647449	0.88[ASN][1000 genomes]
rs4647465	0.88[ASN][1000 genomes]
rs4647466	0.88[ASN][1000 genomes]
rs4647472	0.88[ASN][1000 genomes]
rs4647473	0.88[ASN][1000 genomes]
rs4647477	0.88[ASN][1000 genomes]
rs4647484	0.88[ASN][1000 genomes]
rs4647485	0.88[ASN][1000 genomes]
rs4647486	0.88[ASN][1000 genomes]
rs4647491	0.88[ASN][1000 genomes]
rs4647493	0.88[ASN][1000 genomes]
rs4647508	0.88[ASN][1000 genomes]
rs4647509	0.88[ASN][1000 genomes]
rs4647510	0.88[ASN][1000 genomes]
rs4647514	0.88[ASN][1000 genomes]
rs4647516	0.88[ASN][1000 genomes]
rs60228132	0.88[ASN][1000 genomes]
rs7037729	0.88[ASN][1000 genomes]
rs73530498	0.88[ASN][1000 genomes]
rs73532103	0.88[ASN][1000 genomes]
rs73534887	0.88[ASN][1000 genomes]
rs73534888	0.88[ASN][1000 genomes]
rs73534898	0.88[ASN][1000 genomes]
rs7854840	0.88[ASN][1000 genomes]
rs9792415	0.88[ASN][1000 genomes]
rs9792481	0.88[ASN][1000 genomes]
rs9792533	0.88[ASN][1000 genomes]
rs9792691	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
5	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking 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	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97844000-97898400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr9:97855400-97884800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:97861200-97889800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:97863600-97883600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:97865600-97883600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:97866000-97883400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:97866000-97889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:97866200-97889600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:97866400-97886600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:97868600-97889400	Weak transcription	Fetal Heart	heart
11	chr9:97869800-97886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:97869800-97889800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr9:97870000-97883400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:97870400-97889600	Weak transcription	Fetal Thymus	thymus
15	chr9:97870600-97889800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:97872000-97881000	Weak transcription	NH-A	brain
17	chr9:97874600-97889400	Weak transcription	Colonic Mucosa	Colon
18	chr9:97874800-97881000	Weak transcription	Fetal Kidney	kidney
19	chr9:97874800-97883600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:97875000-97883400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:97875000-97889800	Weak transcription	Hela-S3	cervix
22	chr9:97875200-97881000	Weak transcription	Osteobl	bone
23	chr9:97875200-97883600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:97875200-97889600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:97875200-97889600	Weak transcription	HSMMtube	muscle
26	chr9:97875400-97881600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:97875400-97889400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:97875400-97889400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:97875400-97895400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:97875400-97900400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr9:97875600-97881600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr9:97875600-97881600	Weak transcription	NHLF	lung
33	chr9:97875600-97884600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:97875600-97887800	Weak transcription	Placenta	Placenta
35	chr9:97875600-97889400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:97875600-97889600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:97875600-97889600	Weak transcription	Adipose Nuclei	Adipose
38	chr9:97875600-97900000	Weak transcription	Spleen	Spleen
39	chr9:97875600-97906000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:97875800-97883400	Weak transcription	NHDF-Ad	bronchial
41	chr9:97875800-97888800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:97875800-97892200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr9:97876800-97884800	Weak transcription	Thymus	Thymus
44	chr9:97876800-97889600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:97877000-97881800	Weak transcription	HepG2	liver
46	chr9:97877000-97883600	Weak transcription	Fetal Lung	lung
47	chr9:97877000-97886400	Weak transcription	Primary T cells from cord blood	blood
48	chr9:97877000-97886600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr9:97877000-97889600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:97877000-97889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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