Variant report

Variant	rs9649978
Chromosome Location	chr8:96254033-96254034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96248174..96249978-chr8:96253878..96256406,3	K562	blood:
2	chr8:96240789..96242805-chr8:96252372..96254385,3	K562	blood:
3	chr8:96240965..96243166-chr8:96252025..96254042,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10956943	0.95[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs13258855	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs13259182	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs13263562	0.89[ASN][1000 genomes]
rs13263858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13270711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13279671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1441394	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1530257	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17669929	0.81[ASN][1000 genomes]
rs2083616	0.87[ASN][1000 genomes]
rs2439629	0.91[ASN][1000 genomes]
rs2439630	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2514551	0.91[ASN][1000 genomes]
rs2514552	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2514553	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2514574	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4492337	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4560758	0.85[ASN][1000 genomes]
rs7815255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7820512	0.85[ASN][1000 genomes]
rs7835921	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs876260	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs876261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs879997	0.86[ASN][1000 genomes]
rs879998	0.87[ASN][1000 genomes]
rs879999	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs9297955	0.85[ASN][1000 genomes]
rs9297956	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv971599	chr8:96249324-96255153	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:96245200-96254600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
6	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
7	chr8:96248400-96262200	Weak transcription	HepG2	liver
8	chr8:96249000-96280800	Weak transcription	Gastric	stomach
9	chr8:96249600-96271400	Weak transcription	Aorta	Aorta
10	chr8:96250400-96261800	Weak transcription	Spleen	Spleen
11	chr8:96250600-96280400	Weak transcription	Left Ventricle	heart
12	chr8:96251000-96271000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:96251200-96280400	Weak transcription	Psoas Muscle	Psoas
14	chr8:96251400-96254400	Weak transcription	Fetal Lung	lung
15	chr8:96251400-96259800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:96251400-96260200	Weak transcription	Primary B cells from cord blood	blood
17	chr8:96251800-96258800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:96252200-96263400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:96253400-96280400	Weak transcription	Esophagus	oesophagus

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