Variant report

Variant	rs2054805
Chromosome Location	chr8:92021036-92021037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92020004..92022813-chr8:92079820..92084067,3	K562	blood:
2	chr8:92020004..92022671-chr8:92078634..92082685,3	K562	blood:
3	chr8:92018019..92019534-chr8:92020898..92023127,2	K562	blood:

Variant related genes	Relation type
ENSG00000253738	Chromatin interaction
ENSG00000155100	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1003996	0.89[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs10086609	0.90[GIH][hapmap]
rs10106570	0.83[MEX][hapmap];0.80[AMR][1000 genomes]
rs10108486	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10108616	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs10112439	0.89[CEU][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1011254	0.83[CEU][hapmap];0.94[GIH][hapmap];0.92[TSI][hapmap]
rs10956781	0.91[GIH][hapmap]
rs10956782	0.91[GIH][hapmap]
rs1125229	0.83[MEX][hapmap]
rs1160329	0.83[MEX][hapmap]
rs13265644	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13276591	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1354519	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs1354520	0.82[GIH][hapmap]
rs1386107	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs1386112	0.89[CEU][hapmap];0.94[GIH][hapmap];0.92[TSI][hapmap]
rs1463920	0.91[GIH][hapmap]
rs1486465	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs1504795	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs1542666	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1552397	0.83[MEX][hapmap]
rs16905444	0.91[GIH][hapmap]
rs16905571	0.94[CEU][hapmap]
rs2101378	0.83[MEX][hapmap]
rs2129260	0.83[MEX][hapmap]
rs2129261	0.86[EUR][1000 genomes]
rs2255173	0.86[EUR][1000 genomes]
rs2339289	0.89[CEU][hapmap];0.94[GIH][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]
rs2631024	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2677573	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2677580	0.84[EUR][1000 genomes]
rs2740776	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2740791	0.83[MEX][hapmap]
rs2740792	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2740795	0.80[EUR][1000 genomes]
rs2740799	0.83[CEU][hapmap]
rs28675099	0.82[AMR][1000 genomes]
rs4448231	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4529427	0.80[MEX][hapmap];0.81[AMR][1000 genomes]
rs4634599	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6471261	0.83[MEX][hapmap]
rs6994971	0.90[GIH][hapmap];0.82[TSI][hapmap]
rs7005565	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7018395	0.83[CEU][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs72664410	0.83[AMR][1000 genomes]
rs7818155	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818187	0.81[AMR][1000 genomes]
rs7825360	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7828122	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]
rs7831333	0.88[MEX][hapmap];0.82[AMR][1000 genomes]
rs7832881	0.81[AMR][1000 genomes]
rs7837376	0.81[AMR][1000 genomes]
rs997899	0.83[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
rs2054805	INTS8	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91997800-92026400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:91998200-92026400	Weak transcription	HMEC	breast
3	chr8:91998200-92026800	Weak transcription	Ovary	ovary
4	chr8:91998200-92027000	Weak transcription	Brain Germinal Matrix	brain
5	chr8:91998200-92028800	Weak transcription	HSMMtube	muscle
6	chr8:91998200-92030200	Weak transcription	Aorta	Aorta
7	chr8:91998200-92030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:91998400-92025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:91998400-92025800	Weak transcription	NHLF	lung
10	chr8:91998400-92026400	Weak transcription	NH-A	brain
11	chr8:91998400-92026600	Weak transcription	Psoas Muscle	Psoas
12	chr8:91998400-92028800	Weak transcription	Fetal Brain Male	brain
13	chr8:91998400-92030200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:91998600-92026400	Weak transcription	Thymus	Thymus
15	chr8:91998600-92027200	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:91998600-92030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:91998600-92030200	Weak transcription	Fetal Stomach	stomach
18	chr8:91998600-92030200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:91998600-92030400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:92000200-92026600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:92000400-92025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:92000400-92026800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:92000400-92029000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:92001000-92027400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:92001400-92027400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:92001800-92026400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:92003800-92027200	Weak transcription	Fetal Kidney	kidney
28	chr8:92003800-92040200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:92004400-92027200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:92005600-92027400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:92008000-92028800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:92008600-92025200	Weak transcription	Placenta	Placenta
33	chr8:92008600-92028600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:92008800-92026200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:92009000-92027000	Weak transcription	Osteobl	bone
36	chr8:92009000-92030200	Weak transcription	Brain Angular Gyrus	brain
37	chr8:92009200-92028800	Weak transcription	Brain Anterior Caudate	brain
38	chr8:92011400-92027400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:92012600-92026400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:92012600-92027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:92012800-92027400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:92013400-92026600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:92013400-92027400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:92013400-92030200	Weak transcription	Lung	lung
45	chr8:92013600-92026400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:92013600-92027400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:92014000-92026400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:92014600-92026200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:92014600-92027400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:92014600-92033000	Weak transcription	Fetal Intestine Small	intestine

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