Variant report

Variant	rs10112230
Chromosome Location	chr8:96038072-96038073
allele	A/G
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96035216..96038805-chr8:96144544..96148215,5	MCF-7	breast:
2	chr8:96029323..96031778-chr8:96037599..96040079,2	K562	blood:
3	chr8:95906811..95910746-chr8:96036982..96038663,3	K562	blood:
4	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
5	chr6:151710576..151712846-chr8:96037151..96040078,2	MCF-7	breast:
6	chr8:96037199..96039610-chr8:96084206..96086584,2	K562	blood:
7	chr8:96036158..96039259-chr8:96045836..96048453,3	MCF-7	breast:
8	chr17:27738897..27740398-chr8:96037413..96039702,2	MCF-7	breast:
9	chr8:96037342..96039267-chr8:96086128..96088306,2	MCF-7	breast:
10	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
11	chr8:95915511..95918504-chr8:96036526..96038312,2	MCF-7	breast:
12	chr8:96037704..96039213-chr8:96145845..96147628,2	K562	blood:
13	chr8:95835209..95837028-chr8:96037260..96039348,2	MCF-7	breast:
14	chr8:95906811..95909706-chr8:96035495..96039299,4	K562	blood:
15	chr8:95906302..95910709-chr8:96035472..96039639,10	MCF-7	breast:
16	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
17	chr8:95565366..95567177-chr8:96036825..96038672,2	K562	blood:
18	chr8:95959784..95963292-chr8:96036254..96039616,3	K562	blood:
19	chr8:96037608..96039540-chr8:96126841..96128401,2	K562	blood:
20	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
21	chr8:96037496..96040138-chr8:96124938..96127918,2	MCF-7	breast:
22	chr8:95835151..95838228-chr8:96036599..96039705,3	K562	blood:
23	chr17:59485283..59487491-chr8:96036990..96038836,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164944	Chromatin interaction
ENSG00000238791	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000181472	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10086541	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092003	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093594	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097930	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098453	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10100089	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103841	0.86[EUR][1000 genomes]
rs10105437	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110635	0.97[EUR][1000 genomes]
rs10111154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111300	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10113545	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1031388	1.00[ASN][1000 genomes]
rs11774085	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776189	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779506	0.93[ASN][1000 genomes]
rs11780931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781001	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781040	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781619	0.87[EUR][1000 genomes]
rs11784178	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786380	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786878	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279040	0.87[ASN][1000 genomes]
rs1545480	0.93[ASN][1000 genomes]
rs16917224	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16917233	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2340536	0.87[EUR][1000 genomes]
rs2599711	0.93[ASN][1000 genomes]
rs2599713	1.00[ASN][1000 genomes]
rs2599714	1.00[ASN][1000 genomes]
rs2599715	1.00[ASN][1000 genomes]
rs2678823	1.00[ASN][1000 genomes]
rs2678829	0.93[ASN][1000 genomes]
rs28363725	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28378156	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28406132	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28419772	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28440026	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28477467	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496357	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28616734	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28651964	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28712702	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34700722	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35518242	0.87[ASN][1000 genomes]
rs4323442	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56901035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57925408	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61596977	0.86[EUR][1000 genomes]
rs6471505	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471506	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651271	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651272	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985880	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989862	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002940	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7008542	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71532343	0.87[ASN][1000 genomes]
rs73276406	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276417	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276437	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812312	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7818688	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826046	0.83[ASN][1000 genomes]
rs7826196	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832570	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842703	0.83[ASN][1000 genomes]
rs7842715	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297950	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10112230	C8orf38	Cis_1M	lymphoblastoid	RTeQTL
rs10112230	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96036400-96038200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr8:96036400-96038400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:96036600-96038200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:96036600-96038400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:96036600-96038400	Active TSS	HSMM	muscle
6	chr8:96036600-96038400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr8:96036600-96038600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:96036600-96038800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:96036800-96038200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:96036800-96038200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:96036800-96038400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:96036800-96038600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:96036800-96038800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:96037000-96038200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:96037000-96038200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:96037000-96038200	Active TSS	Fetal Stomach	stomach
17	chr8:96037000-96038200	Bivalent/Poised TSS	HepG2	liver
18	chr8:96037000-96038400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:96037000-96038400	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr8:96037000-96038600	Active TSS	A549	lung
21	chr8:96037000-96038600	Active TSS	K562	blood
22	chr8:96037200-96038200	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr8:96037200-96038400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr8:96037200-96038400	Active TSS	HMEC	breast
25	chr8:96037400-96038400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr8:96037400-96038400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:96037400-96038400	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr8:96037600-96038200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr8:96037600-96038200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr8:96037600-96038200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr8:96037600-96038200	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr8:96037600-96038200	Flanking Active TSS	Colonic Mucosa	Colon
33	chr8:96037600-96038200	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr8:96037600-96038200	Flanking Active TSS	HSMMtube	muscle
35	chr8:96037600-96038400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr8:96037600-96038400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:96037600-96038400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:96037600-96038400	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr8:96037600-96038400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr8:96037600-96038400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr8:96037600-96038600	Flanking Active TSS	Liver	Liver
42	chr8:96037600-96038800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:96037800-96038200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:96037800-96038200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:96037800-96038200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr8:96037800-96038200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr8:96037800-96038200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:96037800-96038200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:96037800-96038200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr8:96037800-96038200	Flanking Active TSS	Brain Germinal Matrix	brain

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