Variant report

Variant	rs4647491
Chromosome Location	chr9:97940613-97940614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97933951..97937360-chr9:97938863..97941166,3	K562	blood:
2	chr9:97940064..97942185-chr9:97942262..97943911,2	MCF-7	breast:
3	chr9:97934712..97937360-chr9:97939666..97942024,2	K562	blood:

Variant related genes	Relation type
ENSG00000238746	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12683030	0.86[JPT][hapmap]
rs12683182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12684215	1.00[ASN][1000 genomes]
rs12685903	1.00[ASN][1000 genomes]
rs12686588	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1875835	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1886993	1.00[ASN][1000 genomes]
rs2121200	1.00[ASN][1000 genomes]
rs2404458	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35108112	1.00[ASN][1000 genomes]
rs3780566	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3802449	0.86[JPT][hapmap]
rs400727	0.86[JPT][hapmap]
rs4647348	0.89[ASN][1000 genomes]
rs4647352	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4647354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4647360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647386	1.00[ASN][1000 genomes]
rs4647387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4647397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647398	1.00[ASN][1000 genomes]
rs4647402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647405	1.00[ASN][1000 genomes]
rs4647408	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647436	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647449	1.00[ASN][1000 genomes]
rs4647465	1.00[ASN][1000 genomes]
rs4647466	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647472	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647473	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647477	1.00[ASN][1000 genomes]
rs4647484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647485	1.00[ASN][1000 genomes]
rs4647486	1.00[ASN][1000 genomes]
rs4647493	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647508	1.00[ASN][1000 genomes]
rs4647509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647510	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647521	0.88[ASN][1000 genomes]
rs4647549	0.85[JPT][hapmap]
rs60228132	1.00[ASN][1000 genomes]
rs7037729	1.00[ASN][1000 genomes]
rs73530498	1.00[ASN][1000 genomes]
rs73532103	1.00[ASN][1000 genomes]
rs73534887	1.00[ASN][1000 genomes]
rs73534888	1.00[ASN][1000 genomes]
rs73534896	0.89[ASN][1000 genomes]
rs73534898	1.00[ASN][1000 genomes]
rs7854840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9792415	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9792481	1.00[ASN][1000 genomes]
rs9792533	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9792691	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97906600-97950200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97920000-97952000	Weak transcription	Aorta	Aorta
3	chr9:97920000-97952000	Weak transcription	Esophagus	oesophagus
4	chr9:97920400-97951800	Weak transcription	HepG2	liver
5	chr9:97925800-97944800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:97927600-97950400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:97930000-97945200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr9:97930000-97945400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:97930600-97943400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:97930600-97944800	Weak transcription	Lung	lung
11	chr9:97930600-97950400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:97930600-97950800	Weak transcription	Thymus	Thymus
13	chr9:97930600-97952000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:97930800-97941600	Weak transcription	Liver	Liver
15	chr9:97930800-97951600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:97930800-97952400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:97932200-97944800	Weak transcription	Primary T cells from cord blood	blood
18	chr9:97932200-97945000	Weak transcription	Fetal Intestine Large	intestine
19	chr9:97933200-97950600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr9:97933400-97945400	Weak transcription	Fetal Kidney	kidney
21	chr9:97933600-97944200	Weak transcription	Fetal Stomach	stomach
22	chr9:97937600-97941000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:97938200-97945200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:97938200-97945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:97939400-97940800	Enhancers	Fetal Muscle Leg	muscle
26	chr9:97939600-97941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:97939600-97950200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:97940000-97941000	Strong transcription	Fetal Intestine Small	intestine
29	chr9:97940000-97941000	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:97940200-97950200	Weak transcription	Fetal Lung	lung
31	chr9:97940400-97940800	Strong transcription	Pancreas	Pancrea
32	chr9:97940400-97941000	Enhancers	Fetal Thymus	thymus
33	chr9:97940600-97941000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:97940600-97941200	Enhancers	Gastric	stomach
35	chr9:97940600-97950600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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