Variant report

Variant	rs2514552
Chromosome Location	chr8:96249621-96249622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96247598..96249978-chr8:96254089..96255776,2	K562	blood:
2	chr8:96221181..96226002-chr8:96248062..96252220,6	MCF-7	breast:
3	chr8:95907386..95908938-chr8:96249524..96251716,2	MCF-7	breast:
4	chr8:96249492..96251130-chr8:96256592..96259030,2	K562	blood:
5	chr8:96248174..96249978-chr8:96253878..96256406,3	K562	blood:
6	chr8:96145670..96147348-chr8:96249546..96251895,2	MCF-7	breast:
7	chr8:96243081..96246840-chr8:96248821..96252281,5	K562	blood:
8	chr8:96244866..96247715-chr8:96248127..96251735,3	K562	blood:
9	chr8:96218443..96220891-chr8:96249353..96251227,2	MCF-7	breast:
10	chr8:96150317..96152962-chr8:96247980..96250492,2	K562	blood:
11	chr8:96241648..96244611-chr8:96247721..96251221,3	K562	blood:
12	chr8:96229389..96231464-chr8:96247771..96249721,2	K562	blood:
13	chr8:96231573..96233965-chr8:96249378..96252236,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10096750	0.91[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes]
rs10956943	0.95[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs13258855	0.95[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs13259182	0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs13263562	0.84[ASN][1000 genomes]
rs13263858	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13270711	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13279671	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1441394	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1530257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2083616	0.87[ASN][1000 genomes]
rs2439629	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439630	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514574	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4492337	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4560758	0.92[ASN][1000 genomes]
rs4734301	0.83[GIH][hapmap];0.86[LWK][hapmap];0.83[YRI][hapmap]
rs7815255	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7820512	0.92[ASN][1000 genomes]
rs7835921	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs876260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876261	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs879997	0.86[ASN][1000 genomes]
rs879998	0.84[ASN][1000 genomes]
rs879999	0.89[CHB][hapmap];0.81[GIH][hapmap];0.92[JPT][hapmap]
rs894151	0.81[GIH][hapmap]
rs9297955	0.92[ASN][1000 genomes]
rs9297956	0.92[ASN][1000 genomes]
rs9649978	0.91[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2514552	C8orf37	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:96244000-96250000	Weak transcription	Spleen	Spleen
6	chr8:96244200-96250200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:96245200-96254600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
10	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
11	chr8:96248000-96249800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:96248200-96249800	Enhancers	GM12878-XiMat	blood
13	chr8:96248400-96262200	Weak transcription	HepG2	liver
14	chr8:96249000-96280800	Weak transcription	Gastric	stomach
15	chr8:96249400-96250600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:96249600-96251400	Enhancers	Primary B cells from cord blood	blood
17	chr8:96249600-96271400	Weak transcription	Aorta	Aorta

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