Variant report

Variant	rs7828122
Chromosome Location	chr8:92035321-92035322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91996603..91999280-chr8:92033846..92036909,3	K562	blood:
2	chr8:92033356..92037342-chr8:92046814..92050162,4	MCF-7	breast:
3	chr8:91997384..91999280-chr8:92034237..92036383,2	K562	blood:
4	chr8:92033974..92036558-chr8:92045373..92047706,2	K562	blood:
5	chr8:92033827..92035680-chr8:92038840..92041109,3	MCF-7	breast:
6	chr8:92034386..92036269-chr8:92051847..92054462,2	K562	blood:
7	chr8:92032234..92033819-chr8:92034186..92035851,2	K562	blood:

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1003996	0.89[CEU][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs10086609	0.90[GIH][hapmap];0.81[TSI][hapmap]
rs10106570	0.87[MEX][hapmap];0.83[AMR][1000 genomes]
rs10108486	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10108616	0.82[GIH][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs10112439	0.89[CEU][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1011254	0.83[CEU][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap]
rs1055146	0.83[MEX][hapmap]
rs10956781	0.91[GIH][hapmap];0.81[TSI][hapmap]
rs10956782	0.91[GIH][hapmap];0.81[TSI][hapmap]
rs1125229	0.87[MEX][hapmap];0.80[TSI][hapmap]
rs1160329	0.87[MEX][hapmap]
rs13265644	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13276591	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1352159	0.83[MEX][hapmap]
rs1354519	0.82[GIH][hapmap];0.87[MEX][hapmap]
rs1354520	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs1386107	0.82[GIH][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs1386112	0.89[CEU][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap]
rs1463920	0.91[GIH][hapmap];0.81[TSI][hapmap]
rs1463921	0.81[CHB][hapmap]
rs1471847	0.81[AMR][1000 genomes]
rs1486465	0.83[CEU][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs1504795	0.82[GIH][hapmap];0.87[MEX][hapmap]
rs1542666	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1552397	0.87[MEX][hapmap]
rs16905444	0.91[GIH][hapmap];0.81[TSI][hapmap]
rs16905571	0.94[CEU][hapmap]
rs2054805	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054806	0.87[MEX][hapmap]
rs2062881	0.81[CHB][hapmap]
rs2101378	0.87[MEX][hapmap]
rs2129260	0.87[MEX][hapmap];0.80[TSI][hapmap]
rs2129261	0.86[EUR][1000 genomes]
rs2255173	0.86[EUR][1000 genomes]
rs2339289	0.89[CEU][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs2339291	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2631014	0.89[CEU][hapmap]
rs2631017	0.86[EUR][1000 genomes]
rs2631023	0.81[AMR][1000 genomes]
rs2631024	0.87[EUR][1000 genomes]
rs2631025	0.81[AMR][1000 genomes]
rs2677573	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2677580	0.84[EUR][1000 genomes]
rs2740772	0.81[AMR][1000 genomes]
rs2740773	0.81[AMR][1000 genomes]
rs2740774	0.81[AMR][1000 genomes]
rs2740776	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2740784	0.81[AMR][1000 genomes]
rs2740788	0.80[JPT][hapmap];0.83[MEX][hapmap]
rs2740791	0.87[MEX][hapmap]
rs2740792	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2740795	0.80[EUR][1000 genomes]
rs2740799	0.83[CEU][hapmap]
rs28404401	0.84[AMR][1000 genomes]
rs28618232	0.84[AMR][1000 genomes]
rs28675099	0.85[AMR][1000 genomes]
rs35972814	0.84[AMR][1000 genomes]
rs4433109	0.81[CHB][hapmap]
rs4448231	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4529427	0.92[MEX][hapmap];0.86[AMR][1000 genomes]
rs4546617	0.81[CHB][hapmap]
rs4634599	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6471261	0.87[MEX][hapmap];0.80[TSI][hapmap]
rs6994971	0.90[GIH][hapmap];0.83[TSI][hapmap]
rs7005565	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7018395	0.83[CEU][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs72664410	0.88[AMR][1000 genomes]
rs7818155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818187	0.86[AMR][1000 genomes]
rs7825360	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7829663	0.83[MEX][hapmap]
rs7831333	0.91[MEX][hapmap];0.85[AMR][1000 genomes]
rs7832881	0.86[AMR][1000 genomes]
rs7837376	0.86[AMR][1000 genomes]
rs997898	0.83[MEX][hapmap]
rs997899	0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1851089	chr8:92006663-92038304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7828122	INTS8	cis	cerebellum	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92003800-92040200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
3	chr8:92023600-92045600	Weak transcription	Right Ventricle	heart
4	chr8:92026000-92038400	Weak transcription	Esophagus	oesophagus
5	chr8:92028000-92036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:92028000-92038000	Weak transcription	Brain Germinal Matrix	brain
7	chr8:92028000-92038000	Weak transcription	Psoas Muscle	Psoas
8	chr8:92028200-92049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:92029400-92049400	Weak transcription	Fetal Brain Male	brain
10	chr8:92029600-92051000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:92030400-92037800	Weak transcription	Aorta	Aorta
12	chr8:92030800-92035400	Weak transcription	Fetal Kidney	kidney
13	chr8:92030800-92037400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:92030800-92038000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:92030800-92038200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:92030800-92039000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:92030800-92039000	Weak transcription	HMEC	breast
18	chr8:92030800-92039200	Weak transcription	HUVEC	blood vessel
19	chr8:92030800-92039400	Weak transcription	HSMMtube	muscle
20	chr8:92030800-92039400	Weak transcription	NHEK	skin
21	chr8:92030800-92040000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:92030800-92049400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:92030800-92052400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:92030800-92052400	Weak transcription	Lung	lung
25	chr8:92031000-92037600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:92031000-92038200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:92031000-92038400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:92031000-92039800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:92031000-92040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:92031000-92050800	Weak transcription	Fetal Brain Female	brain
31	chr8:92031200-92038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:92031200-92047200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:92031400-92035400	Weak transcription	Brain Anterior Caudate	brain
34	chr8:92031400-92035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:92031400-92037800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:92031400-92039400	Weak transcription	K562	blood
37	chr8:92031400-92045600	Weak transcription	Ovary	ovary
38	chr8:92031400-92046400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:92032000-92035800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:92032000-92036800	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:92032000-92037400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:92032000-92046600	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:92032200-92036000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:92032200-92038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:92032200-92038200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:92032200-92038200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:92032200-92041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:92032200-92044600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:92032200-92045600	Weak transcription	Brain Angular Gyrus	brain
50	chr8:92032200-92045600	Weak transcription	Left Ventricle	heart

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