Variant report

Variant	rs1372048
Chromosome Location	chr8:95467241-95467242
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95466958..95468807-chr8:95478608..95481417,2	K562	blood:
2	chr8:95460277..95461905-chr8:95464326..95467291,2	MCF-7	breast:
3	chr8:95467104..95469592-chr8:95471251..95474139,2	K562	blood:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10087254	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087503	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095298	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10102233	0.95[CHB][hapmap]
rs1011249	0.85[ASN][1000 genomes]
rs10216902	0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[TSI][hapmap];0.86[ASN][1000 genomes]
rs10464877	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10504936	0.95[CHB][hapmap]
rs10808669	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956913	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956914	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12375355	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545262	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs12549544	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674614	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675415	0.90[ASN][1000 genomes]
rs12676373	0.84[ASN][1000 genomes]
rs12680029	0.80[ASN][1000 genomes]
rs12681366	0.86[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs12681504	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682038	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682524	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13248829	0.83[EUR][1000 genomes]
rs13280849	0.95[CHB][hapmap]
rs13281619	0.95[CHB][hapmap]
rs1561648	0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1598713	0.95[CHB][hapmap]
rs16916760	0.86[ASN][1000 genomes]
rs16916788	0.95[CHB][hapmap];0.89[CHD][hapmap];0.80[TSI][hapmap]
rs16916802	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs1872889	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2011246	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043987	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2043988	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046664	0.86[CHB][hapmap]
rs2165405	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2171440	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2197003	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];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197004	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291439	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs2381793	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2381886	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28641679	0.80[ASN][1000 genomes]
rs2919655	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2919656	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919657	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919658	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919659	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919660	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919662	0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2919664	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919667	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919668	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919670	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919672	0.85[ASN][1000 genomes]
rs2919673	0.85[ASN][1000 genomes]
rs2921386	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921389	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930956	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930958	0.95[CHB][hapmap];0.91[CHD][hapmap];0.83[TSI][hapmap];0.85[ASN][1000 genomes]
rs2930961	0.87[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2930962	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2930963	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930964	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2930968	0.95[CHB][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930970	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2930971	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2931631	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2931632	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2931633	0.84[ASN][1000 genomes]
rs2960121	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2960122	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3019145	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019146	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[TSI][hapmap];0.84[ASN][1000 genomes]
rs3019147	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019149	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019150	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019154	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs3019155	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019156	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019277	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019278	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019279	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs3019280	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019281	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019282	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3019284	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35918414	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735288	0.95[CHB][hapmap]
rs4735291	0.94[ASN][1000 genomes]
rs4735292	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs4735293	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55963151	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980687	0.95[CHB][hapmap];0.89[CHD][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs6999103	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999976	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672679	0.90[ASN][1000 genomes]
rs72674819	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752460	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9297939	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:95449800-95479600	Weak transcription	NH-A	brain
6	chr8:95450000-95468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:95450200-95480000	Weak transcription	NHEK	skin
9	chr8:95450400-95479800	Weak transcription	HMEC	breast
10	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:95451400-95467800	Weak transcription	Small Intestine	intestine
13	chr8:95453000-95476000	Weak transcription	HUVEC	blood vessel
14	chr8:95453000-95476400	Weak transcription	Thymus	Thymus
15	chr8:95454000-95467400	Weak transcription	Primary T cells from cord blood	blood
16	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:95456000-95471000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:95456000-95476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:95457800-95475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:95458000-95472200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:95458000-95472400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:95459800-95476400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:95460000-95485000	Weak transcription	HepG2	liver
27	chr8:95460600-95467400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:95460600-95471400	Weak transcription	Fetal Stomach	stomach
29	chr8:95461200-95467400	Weak transcription	A549	lung
30	chr8:95461200-95469600	Weak transcription	NHLF	lung
31	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
32	chr8:95462800-95468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:95462800-95468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:95464400-95479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:95465200-95467400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:95465200-95480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:95465800-95468400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:95466600-95471200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:95466800-95470600	Strong transcription	Dnd41	blood
41	chr8:95467000-95468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:95467000-95468800	Enhancers	Fetal Lung	lung
43	chr8:95467000-95469400	Weak transcription	Fetal Thymus	thymus
44	chr8:95467000-95469400	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:95467000-95469800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:95467000-95477200	Weak transcription	K562	blood
47	chr8:95467200-95467600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:95467200-95467600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:95467200-95467600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:95467200-95467600	Enhancers	Stomach Mucosa	stomach

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