Variant report

Variant	rs6468782
Chromosome Location	chr8:102612520-102612521
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102584389..102586925-chr8:102611656..102613755,2	MCF-7	breast:
2	chr8:102611534..102613191-chr8:102616243..102617957,2	K562	blood:
3	chr8:102612038..102613685-chr8:102646133..102647980,2	MCF-7	breast:
4	chr8:102611417..102613191-chr8:102615722..102617957,2	K562	blood:
5	chr8:102564639..102566230-chr8:102610214..102613012,2	MCF-7	breast:
6	chr8:102512147..102516211-chr8:102611218..102613960,3	MCF-7	breast:
7	chr8:102612026..102615007-chr8:103875604..103877625,2	MCF-7	breast:
8	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
9	chr8:102595468..102600144-chr8:102610576..102613880,7	MCF-7	breast:
10	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
11	chr8:102595035..102599988-chr8:102610070..102614354,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000083307	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10095196	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10095480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10955259	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10955260	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10955261	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11783504	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs12541858	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12544314	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12678441	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12678894	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1404949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573279	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1573280	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1573281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1573282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1573283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867971	0.92[CEU][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs2030783	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030784	1.00[CEU][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030785	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030786	0.87[CEU][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs2211918	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2507794	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2507795	0.88[CEU][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35890104	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4002334	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4236766	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4305864	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4392865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4588817	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4593516	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734027	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs4734028	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4734544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734546	1.00[CEU][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734548	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734549	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734550	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734551	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734553	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734557	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734559	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5023181	0.84[EUR][1000 genomes]
rs503895	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs567029	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs579505	0.92[CEU][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6468780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6468781	0.90[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7462010	1.00[CEU][hapmap]
rs7819613	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7820410	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7820809	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7821380	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7823289	0.87[CEU][hapmap]
rs7824065	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7835187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7835323	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836018	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836164	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7838863	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7838983	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7845751	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9642972	0.84[CEU][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes]
rs9649995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.82[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	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6468782	PABPC1	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:102596000-102615000	Weak transcription	Stomach Mucosa	stomach
5	chr8:102597400-102616000	Weak transcription	Gastric	stomach
6	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
7	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:102601600-102616200	Weak transcription	Fetal Kidney	kidney
9	chr8:102604000-102614600	Weak transcription	Fetal Lung	lung
10	chr8:102607000-102616600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:102607800-102617000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:102609200-102616000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:102609800-102614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:102611000-102612600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:102611000-102612800	Weak transcription	Lung	lung
16	chr8:102611000-102613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:102611200-102612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:102611200-102613000	Strong transcription	HMEC	breast
19	chr8:102611200-102613400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:102611400-102612800	Strong transcription	NHEK	skin
21	chr8:102611400-102613200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:102611400-102613400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:102611400-102613600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:102611400-102613800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:102611600-102612600	Strong transcription	Esophagus	oesophagus
26	chr8:102611600-102613000	Strong transcription	Fetal Intestine Large	intestine
27	chr8:102611600-102613000	Strong transcription	Pancreas	Pancrea
28	chr8:102611600-102613200	Strong transcription	Fetal Intestine Small	intestine
29	chr8:102611600-102617200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:102611800-102612800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr8:102612000-102612800	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr8:102612000-102612800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr8:102612000-102613000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr8:102612200-102613000	Genic enhancers	Placenta Amnion	Placenta Amnion
35	chr8:102612200-102613200	Strong transcription	Fetal Stomach	stomach
36	chr8:102612200-102613400	Enhancers	Placenta	Placenta
37	chr8:102612200-102613600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:102612400-102612600	Enhancers	Fetal Brain Male	brain
39	chr8:102612400-102612800	Enhancers	Right Atrium	heart
40	chr8:102612400-102612800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:102612400-102613000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:102612400-102613200	Enhancers	Osteobl	bone
43	chr8:102612400-102613800	Enhancers	NHDF-Ad	bronchial
44	chr8:102612400-102614400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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