Variant report

Variant	rs10092003
Chromosome Location	chr8:96036422-96036423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:96036338-96037732	SK-N-SH	brain:	n/a	chr8:96037164-96037172
2	POLR2A	chr8:96036390-96037675	HUVEC	blood vessel:	n/a	n/a
3	SIN3AK20	chr8:96036261-96038149	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:96036403-96037703	GM12892	blood:	n/a	n/a
5	SREBP1	chr8:96036232-96038516	GM12878	blood:	n/a	n/a
6	MTA3	chr8:96036304-96038452	GM12878	blood:	n/a	n/a
7	RUNX3	chr8:96036386-96038468	GM12878	blood:	n/a	n/a
8	STAT5A	chr8:96036316-96037367	GM12878	blood:	n/a	chr8:96037040-96037049 chr8:96037039-96037048
9	HCFC1	chr8:96036305-96038544	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr8:96036260-96038306	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr8:96036358-96038359	GM12891	blood:	n/a	n/a
12	CTBP2	chr8:96036393-96037700	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr8:96036408-96037814	HepG2	liver:	n/a	chr8:96036986-96036995 chr8:96037176-96037186 chr8:96037592-96037602 chr8:96036985-96036992
14	CTCF	chr8:96036285-96037652	A549	lung:	n/a	chr8:96037164-96037172

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96035833..96037489-chr8:96059135..96061136,2	MCF-7	breast:
2	chr8:96035216..96038805-chr8:96144544..96148215,5	MCF-7	breast:
3	chr8:96035638..96037575-chr8:96142596..96146380,3	K562	blood:
4	chr8:96033821..96037970-chr8:96145284..96149341,6	MCF-7	breast:
5	chr8:95958601..95962411-chr8:96033992..96036562,4	MCF-7	breast:
6	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
7	chr8:95906870..95908993-chr8:96035106..96036668,2	K562	blood:
8	chr8:96036158..96039259-chr8:96045836..96048453,3	MCF-7	breast:
9	chr8:95906811..95909706-chr8:96035495..96039299,4	K562	blood:
10	chr8:96028191..96030864-chr8:96035200..96037121,2	K562	blood:
11	chr8:95906302..95910709-chr8:96035472..96039639,10	MCF-7	breast:
12	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
13	chr8:95959784..95963292-chr8:96036254..96039616,3	K562	blood:
14	chr8:96031972..96033668-chr8:96035592..96037179,2	MCF-7	breast:
15	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFAF6	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10086541	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087402	0.87[GIH][hapmap]
rs10089123	0.87[GIH][hapmap]
rs10093594	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096455	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097930	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098197	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098453	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10100089	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103841	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10105437	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106491	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110635	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10111154	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111300	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10112230	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113545	0.90[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1031388	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10504939	0.81[CEU][hapmap]
rs11774085	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11776189	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778553	0.81[CEU][hapmap];0.89[CHD][hapmap];0.81[TSI][hapmap]
rs11779506	0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[ASN][1000 genomes]
rs11779698	0.81[CEU][hapmap]
rs11780931	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781001	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781040	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781619	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11781757	0.81[CEU][hapmap]
rs11782818	0.81[CEU][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs11783878	0.81[CEU][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs11784178	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786380	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11786878	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279040	0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[ASN][1000 genomes]
rs1545480	1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16893774	0.83[GIH][hapmap]
rs16917117	0.87[CEU][hapmap];0.83[GIH][hapmap]
rs16917224	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16917233	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665737	0.86[CEU][hapmap]
rs2340536	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2599711	1.00[JPT][hapmap];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[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2678829	0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28363725	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28378156	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28399553	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs28406132	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28419772	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28440026	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28477467	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496357	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28616734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28651964	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28712702	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34700722	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35518242	0.87[ASN][1000 genomes]
rs3802191	0.81[CEU][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs4323442	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56901035	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57925408	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61596977	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6471505	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471506	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6651271	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651272	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985880	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989862	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002940	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7008542	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71532343	0.87[ASN][1000 genomes]
rs73276406	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276417	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276437	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276439	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276444	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812312	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7818536	0.89[YRI][hapmap]
rs7818688	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826046	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7826196	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832570	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842703	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7842715	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297950	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297951	0.82[ASW][hapmap];0.93[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10092003	C8orf38	Cis_1M	lymphoblastoid	RTeQTL
rs10092003	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs10092003	C8orf38	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96023400-96036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96029800-96036600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:96032600-96036600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:96032800-96036600	Weak transcription	Right Ventricle	heart
5	chr8:96033000-96036600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:96033000-96036600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:96033000-96036600	Weak transcription	Esophagus	oesophagus
8	chr8:96033000-96036600	Weak transcription	Gastric	stomach
9	chr8:96033200-96036600	Weak transcription	Right Atrium	heart
10	chr8:96033600-96036600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:96033600-96036600	Weak transcription	Psoas Muscle	Psoas
12	chr8:96034200-96036600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:96034200-96036600	Weak transcription	Left Ventricle	heart
14	chr8:96035600-96036600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:96035800-96036600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:96036200-96036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:96036200-96036600	Enhancers	Primary B cells from cord blood	blood
18	chr8:96036200-96036600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:96036200-96036600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:96036200-96036600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:96036200-96036600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:96036200-96036600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:96036200-96036600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:96036200-96036600	Enhancers	Pancreas	Pancrea
25	chr8:96036200-96036600	Enhancers	HepG2	liver
26	chr8:96036200-96036800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:96036400-96036600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:96036400-96036600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:96036400-96036600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:96036400-96036600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:96036400-96036600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:96036400-96036600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:96036400-96036600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:96036400-96036600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:96036400-96036600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:96036400-96036600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:96036400-96036600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr8:96036400-96036600	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:96036400-96036600	Enhancers	Primary T cells from cord blood	blood
40	chr8:96036400-96036600	Enhancers	Primary hematopoietic stem cells	blood
41	chr8:96036400-96036600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:96036400-96036600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:96036400-96036600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:96036400-96036600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr8:96036400-96036600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:96036400-96036600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr8:96036400-96036600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:96036400-96036600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:96036400-96036600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:96036400-96036600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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