Variant report

Variant	rs16902273
Chromosome Location	chr8:91018507-91018508
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:91017469-91018581	GM12878	blood:	n/a	chr8:91017730-91017737
2	SPI1	chr8:91017520-91018586	HL-60	blood:	n/a	chr8:91017730-91017737
3	POLR2A	chr8:91017669-91018591	GM12878	blood:	n/a	n/a
4	CHD1	chr8:91018220-91018608	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90913245..90914861-chr8:91017042..91018822,2	K562	blood:
2	chr8:91012916..91015532-chr8:91016976..91019163,4	K562	blood:
3	chr8:91016481..91019330-chr8:91020288..91024587,4	MCF-7	breast:
4	chr8:91017661..91019638-chr8:91023682..91026247,2	K562	blood:
5	chr8:90738912..90741485-chr8:91017416..91019883,2	K562	blood:
6	chr8:91010711..91015173-chr8:91016537..91023019,10	MCF-7	breast:
7	chr8:91017521..91019447-chr8:91254781..91258818,3	MCF-7	breast:
8	chr8:91009932..91012698-chr8:91017026..91019725,2	K562	blood:

No data

Variant related genes	Relation type
NBN	TF binding region
ENSG00000104325	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10435550	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10435551	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12675530	1.00[JPT][hapmap];0.93[MEX][hapmap]
rs13312905	0.80[YRI][hapmap]
rs13312921	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13312954	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16893166	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs16901941	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16902355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16902558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805811	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805815	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805824	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805826	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805837	0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805839	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805850	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805892	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805894	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805901	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805902	0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805907	0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805911	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1805912	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1805914	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1805915	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2074594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267542	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280779	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3026287	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3358	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758145	1.00[JPT][hapmap]
rs4477076	0.81[EUR][1000 genomes]
rs6989727	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73306482	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs769418	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7818138	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7822786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7834282	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7844005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845572	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv8365	chr8:91014360-91019600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91021200	Weak transcription	Gastric	stomach
2	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:91014800-91018800	Weak transcription	Fetal Brain Female	brain
5	chr8:91014800-91022200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:91014800-91022400	Weak transcription	Ovary	ovary
7	chr8:91014800-91031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:91014800-91031200	Weak transcription	Fetal Brain Male	brain
9	chr8:91014800-91031200	Weak transcription	Placenta	Placenta
10	chr8:91014800-91031400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:91014800-91031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:91014800-91031400	Weak transcription	Esophagus	oesophagus
13	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
16	chr8:91015000-91019600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:91015000-91021600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:91015000-91024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:91015000-91031200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:91015000-91031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:91015200-91018600	Enhancers	HMEC	breast
22	chr8:91015200-91022000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:91015200-91025000	Weak transcription	NHLF	lung
24	chr8:91015400-91024800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:91015400-91031200	Weak transcription	HSMMtube	muscle
26	chr8:91015400-91031400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:91015400-91031400	Weak transcription	Brain Substantia Nigra	brain
28	chr8:91015400-91031400	Weak transcription	Fetal Kidney	kidney
29	chr8:91015600-91020400	Weak transcription	HepG2	liver
30	chr8:91015600-91021600	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:91015600-91021800	Weak transcription	NH-A	brain
32	chr8:91015600-91031200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
34	chr8:91015800-91022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:91015800-91022000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:91015800-91029000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:91015800-91031200	Weak transcription	Brain Anterior Caudate	brain
38	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:91015800-91033200	Weak transcription	Stomach Mucosa	stomach
41	chr8:91016000-91018600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:91016000-91024800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:91016200-91021000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:91016200-91021200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:91016200-91024800	Weak transcription	NHDF-Ad	bronchial
46	chr8:91016800-91019600	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:91017000-91018600	Genic enhancers	Dnd41	blood
48	chr8:91017000-91018800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:91017000-91019000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:91017000-91023600	Enhancers	Liver	Liver

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