Variant report

Variant	rs13267333
Chromosome Location	chr8:96246395-96246396
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96239240..96241215-chr8:96244914..96248459,3	K562	blood:
2	chr8:96241997..96243931-chr8:96244182..96247053,2	MCF-7	breast:
3	chr8:96236593..96238582-chr8:96243971..96246452,2	K562	blood:
4	chr8:96039022..96041365-chr8:96246280..96249199,2	K562	blood:
5	chr8:96214177..96216026-chr8:96245562..96248226,2	MCF-7	breast:
6	chr8:96236807..96240008-chr8:96246119..96247780,3	MCF-7	breast:
7	chr8:96244866..96247715-chr8:96248127..96251735,3	K562	blood:
8	chr8:96243081..96246840-chr8:96248821..96252281,5	K562	blood:
9	chr8:96245615..96247830-chr8:96279996..96282391,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156172	Chromatin interaction
ENSG00000253773	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11784608	1.00[CHD][hapmap]
rs13250483	0.87[CEU][hapmap]
rs13252268	0.85[CEU][hapmap]
rs13260234	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267037	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267612	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271205	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272104	0.87[CEU][hapmap];0.84[TSI][hapmap]
rs13276119	0.82[CEU][hapmap]
rs13276926	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278690	0.87[CEU][hapmap]
rs1994794	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs34196697	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34289076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389602	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34463279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34962193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141355	1.00[ASN][1000 genomes]
rs35175236	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195888	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35273564	1.00[ASN][1000 genomes]
rs35511040	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35530445	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543354	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559164	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690795	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35809593	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032317	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36096184	1.00[ASN][1000 genomes]
rs55677759	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186143	1.00[ASN][1000 genomes]
rs56237137	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57183551	1.00[ASN][1000 genomes]
rs58191899	1.00[ASN][1000 genomes]
rs58229316	1.00[ASN][1000 genomes]
rs58471124	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58979833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59707579	1.00[ASN][1000 genomes]
rs60835162	1.00[ASN][1000 genomes]
rs61185934	1.00[ASN][1000 genomes]
rs61730929	1.00[ASN][1000 genomes]
rs61730932	1.00[ASN][1000 genomes]
rs61995709	1.00[ASN][1000 genomes]
rs61997199	1.00[ASN][1000 genomes]
rs6471526	1.00[ASN][1000 genomes]
rs7004873	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532351	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532352	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532353	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266490	1.00[ASN][1000 genomes]
rs73268303	1.00[ASN][1000 genomes]
rs73268328	1.00[ASN][1000 genomes]
rs73695429	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695431	1.00[ASN][1000 genomes]
rs73695432	1.00[ASN][1000 genomes]
rs73695433	1.00[ASN][1000 genomes]
rs73695435	1.00[ASN][1000 genomes]
rs73695436	1.00[ASN][1000 genomes]
rs73695437	1.00[ASN][1000 genomes]
rs73695438	1.00[ASN][1000 genomes]
rs73695439	1.00[ASN][1000 genomes]
rs7814173	1.00[ASN][1000 genomes]
rs7815085	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7841828	1.00[ASN][1000 genomes]
rs894149	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	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
4	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 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	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
3	chr8:96238600-96246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:96239200-96246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:96241000-96246800	Weak transcription	HepG2	liver
7	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:96244000-96247400	Weak transcription	Fetal Intestine Large	intestine
10	chr8:96244000-96250000	Weak transcription	Spleen	Spleen
11	chr8:96244200-96246800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:96244200-96248200	Weak transcription	GM12878-XiMat	blood
13	chr8:96244200-96250200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:96245200-96246400	Weak transcription	Left Ventricle	heart
15	chr8:96245200-96246800	Weak transcription	Esophagus	oesophagus
16	chr8:96245200-96248600	Weak transcription	Gastric	stomach
17	chr8:96245200-96254600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:96245600-96247600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
21	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
22	chr8:96246000-96247800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:96246000-96248000	Weak transcription	Primary monocytes fromperipheralblood	blood

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