Variant report

Variant	rs16917117
Chromosome Location	chr8:95909498-95909499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:95906569-95909544	A549	lung:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
2	POLR2A	chr8:95906702-95909571	Hela-S3	cervix:	n/a	n/a
3	HCFC1	chr8:95905561-95909556	Hela-S3	cervix:	n/a	n/a
4	MYC	chr8:95907174-95909536	K562	blood:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
5	E2F6	chr8:95906613-95909507	K562	blood:	n/a	chr8:95907987-95907997 chr8:95906916-95906928 chr8:95907858-95907872 chr8:95907701-95907710 chr8:95906887-95906902 chr8:95907431-95907441 chr8:95907481-95907490 chr8:95908097-95908106 chr8:95907435-95907444 chr8:95908954-95908965 chr8:95909013-95909023
6	MAZ	chr8:95906475-95909505	K562	blood:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
7	JUN	chr8:95905679-95909615	K562	blood:	n/a	chr8:95907471-95907480 chr8:95907973-95907982 chr8:95906827-95906836
8	BRCA1	chr8:95908816-95909529	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr8:95907215-95909708	A549	lung:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
10	MYC	chr8:95907196-95909551	K562	blood:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
11	TAL1	chr8:95908605-95909622	K562	blood:	n/a	n/a
12	MXI1	chr8:95905609-95910254	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95908266..95910460-chr8:96145570..96147664,2	K562	blood:
2	chr8:95731670..95733358-chr8:95907566..95910332,2	MCF-7	breast:
3	chr8:95909127..95911685-chr8:96110779..96112456,2	MCF-7	breast:
4	chr8:95875914..95878170-chr8:95907063..95909574,2	K562	blood:
5	chr8:95907568..95910218-chr8:95952557..95955421,2	MCF-7	breast:
6	chr8:95887298..95889129-chr8:95907558..95909516,2	K562	blood:
7	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
8	chr8:95651059..95653853-chr8:95908677..95911275,2	MCF-7	breast:
9	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
10	chr8:95906811..95909706-chr8:96035495..96039299,4	K562	blood:
11	chr8:95833785..95836631-chr8:95907421..95910283,3	K562	blood:
12	chr8:95906455..95910081-chr8:96279389..96281894,5	K562	blood:
13	chr8:95908463..95909716-chr8:96036655..96037241,3	K562	blood:
14	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
15	chr8:95906302..95910709-chr8:96035472..96039639,10	MCF-7	breast:
16	chr8:95907392..95910679-chr8:95917896..95921327,5	K562	blood:
17	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
18	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
19	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
20	chr8:95909217..95911228-chr8:95924132..95926926,2	K562	blood:
21	chr8:95887298..95891353-chr8:95907558..95910406,4	K562	blood:
22	chr8:95906811..95910746-chr8:96036982..96038663,3	K562	blood:
23	chr8:95909200..95911980-chr8:96146121..96148321,2	MCF-7	breast:
24	chr8:95907370..95909639-chr8:95961818..95964122,3	MCF-7	breast:
25	chr8:95908133..95910346-chr8:96060102..96062695,2	MCF-7	breast:
26	chr8:95907632..95909697-chr8:96084733..96086751,2	MCF-7	breast:
27	chr8:95879524..95883023-chr8:95907236..95910668,3	K562	blood:
28	chr8:95906309..95909766-chr8:96145150..96148465,4	K562	blood:

Variant related genes	Relation type
CCNE2	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000238791	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10086541	0.87[CEU][hapmap]
rs10092003	0.87[CEU][hapmap];0.83[GIH][hapmap]
rs10093594	0.87[CEU][hapmap]
rs10096455	0.87[CEU][hapmap]
rs10097930	0.87[CEU][hapmap]
rs10098197	0.87[CEU][hapmap]
rs10098453	0.87[CEU][hapmap]
rs10111154	0.87[CEU][hapmap]
rs10504939	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs10956927	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs11775475	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11776131	0.84[AMR][1000 genomes]
rs11776189	0.87[CEU][hapmap]
rs11776489	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11776687	0.82[EUR][1000 genomes]
rs11777353	1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11778553	0.94[CEU][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap]
rs11779252	0.84[AMR][1000 genomes]
rs11779282	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11779698	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs11780931	0.87[CEU][hapmap]
rs11781040	0.87[CEU][hapmap]
rs11781429	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11781757	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs11782617	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[EUR][1000 genomes]
rs11782818	0.94[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs11783522	0.88[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11783589	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11783878	0.94[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs11783941	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11784299	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs11786021	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11786088	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11786389	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11786451	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11787377	0.81[EUR][1000 genomes]
rs12056517	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12056808	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13250762	1.00[JPT][hapmap]
rs16893774	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917079	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[EUR][1000 genomes]
rs16917081	1.00[JPT][hapmap]
rs16917082	1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16917093	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs16917102	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16917106	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16917224	0.85[CEU][hapmap]
rs16917233	0.87[CEU][hapmap]
rs17359493	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17665737	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs2515226	0.83[YRI][hapmap]
rs28399553	0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28399563	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28399571	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2904889	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3802191	0.94[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs4075834	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4323442	0.87[CEU][hapmap]
rs4345531	1.00[JPT][hapmap]
rs4355737	0.82[EUR][1000 genomes]
rs481887	0.83[LWK][hapmap];0.84[YRI][hapmap]
rs527234	0.80[LWK][hapmap];0.84[YRI][hapmap]
rs57063661	0.82[EUR][1000 genomes]
rs57773845	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs58675831	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59091366	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59265059	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59521030	0.82[EUR][1000 genomes]
rs60171840	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6471505	0.87[CEU][hapmap]
rs6651271	0.87[CEU][hapmap]
rs6651272	0.87[CEU][hapmap]
rs6986418	0.82[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs6989591	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[EUR][1000 genomes]
rs7002940	0.89[CEU][hapmap]
rs7009940	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs716733	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73269188	0.82[EUR][1000 genomes]
rs73269198	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73269199	0.82[EUR][1000 genomes]
rs73271148	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73271178	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812312	0.87[CEU][hapmap]
rs7826196	0.87[CEU][hapmap]
rs7834966	1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[EUR][1000 genomes]
rs7844932	0.92[GIH][hapmap]
rs9297950	0.87[CEU][hapmap]
rs9297951	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16917117	MATN2	cis	parietal	SCAN
rs16917117	INTS8	cis	lymphoblastoid	seeQTL
rs16917117	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs16917117	C8orf38	cis	cerebellum	SCAN
rs16917117	INTS8	cis	multi-tissue	Pritchard

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95905600-95909600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:95905800-95909600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:95905800-95909600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr8:95905800-95909600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:95906600-95909600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:95906800-95909600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:95906800-95909600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:95906800-95909600	Active TSS	Stomach Mucosa	stomach
9	chr8:95906800-95909600	Active TSS	NHDF-Ad	bronchial
10	chr8:95906800-95909800	Active TSS	K562	blood
11	chr8:95907400-95909600	Active TSS	Fetal Brain Male	brain
12	chr8:95907400-95909600	Active TSS	Stomach Smooth Muscle	stomach
13	chr8:95907400-95909800	Active TSS	Thymus	Thymus
14	chr8:95908400-95910400	Active TSS	Brain Germinal Matrix	brain
15	chr8:95908800-95909600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr8:95909000-95909600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr8:95909000-95909600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr8:95909000-95909600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr8:95909000-95909600	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr8:95909000-95909600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:95909000-95909600	Flanking Active TSS	GM12878-XiMat	blood
22	chr8:95909000-95909600	Flanking Active TSS	HUVEC	blood vessel
23	chr8:95909000-95909800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr8:95909000-95910000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:95909200-95909600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:95909200-95909600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:95909200-95909600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:95909200-95909600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr8:95909200-95909600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr8:95909200-95909600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr8:95909200-95909600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr8:95909200-95909600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr8:95909200-95909600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:95909200-95909600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:95909200-95909600	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr8:95909200-95909600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr8:95909200-95909600	Flanking Active TSS	Fetal Brain Female	brain
38	chr8:95909200-95909600	Flanking Active TSS	Fetal Heart	heart
39	chr8:95909200-95909600	Flanking Active TSS	Fetal Kidney	kidney
40	chr8:95909200-95909800	Flanking Active TSS	Hela-S3	cervix
41	chr8:95909200-95910200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:95909200-95910200	Flanking Active TSS	Dnd41	blood
43	chr8:95909200-95911000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:95909400-95909600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr8:95909400-95909600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:95909400-95909600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:95909400-95909600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr8:95909400-95909600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr8:95909400-95909600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:95909400-95909600	Enhancers	Primary neutrophils fromperipheralblood	blood

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