Variant report

Variant	rs4265146
Chromosome Location	chr8:91656680-91656681
allele	G/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	SIN3AK20	chr8:91654807-91658067	MCF-7	breast:	n/a	n/a
2	CTCF	chr8:91656549-91659045	SK-N-SH	brain:	n/a	n/a
3	CEBPB	chr8:91656481-91657412	Hela-S3	cervix:	n/a	chr8:91656851-91656862
4	MAFK	chr8:91656533-91656815	K562	blood:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
5	TBL1XR1	chr8:91655666-91656779	K562	blood:	n/a	n/a
6	MXI1	chr8:91656257-91659013	IMR90	lung:	n/a	n/a
7	SIN3AK20	chr8:91656302-91659215	MCF-7	breast:	n/a	n/a
8	MAFK	chr8:91656465-91657397	IMR90	lung:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
9	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
10	SIN3A	chr8:91656397-91659016	H1-hESC	embryonic stem cell:	n/a	chr8:91658167-91658178 chr8:91658398-91658409 chr8:91658151-91658162
11	MXI1	chr8:91656305-91659242	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr8:91656508-91657417	Hela-S3	cervix:	n/a	n/a
13	SMC3	chr8:91656611-91657756	Hela-S3	cervix:	n/a	n/a
14	CHD1	chr8:91656615-91658627	GM12878	blood:	n/a	n/a
15	MAX	chr8:91656532-91658780	Hela-S3	cervix:	n/a	chr8:91658375-91658385 chr8:91658472-91658481
16	MYC	chr8:91656612-91656917	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr8:91656466-91658600	MCF10A-Er-Src	breast:	n/a	n/a
18	MAFK	chr8:91656480-91656776	HepG2	liver:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
19	MAFK	chr8:91656092-91657931	Hela-S3	cervix:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
20	MAFF	chr8:91656457-91656764	K562	blood:	n/a	chr8:91656698-91656712 chr8:91656624-91656642
21	MAFK	chr8:91656464-91656906	HepG2	liver:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
22	POLR2A	chr8:91655703-91659084	PBDE	blood:	n/a	n/a
23	POLR2A	chr8:91656417-91659146	GM12891	blood:	n/a	n/a
24	RFX5	chr8:91656490-91657541	Hela-S3	cervix:	n/a	chr8:91656996-91657013 chr8:91656610-91656627
25	CHD1	chr8:91656074-91657883	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFF	chr8:91656436-91656809	HepG2	liver:	n/a	chr8:91656698-91656712 chr8:91656624-91656642

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
2	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
3	chr12:120729453..120731946-chr8:91656614..91658294,2	MCF-7	breast:
4	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
5	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
6	chr8:91654051..91656885-chr8:91803019..91806273,4	MCF-7	breast:
7	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
8	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
9	chr8:91656618..91662321-chr8:91871461..91875565,6	MCF-7	breast:
10	chr1:148551689..148553577-chr8:91655255..91657284,2	MCF-7	breast:
11	chr17:58677174..58679477-chr8:91656621..91658384,2	MCF-7	breast:
12	chr8:91655211..91656811-chr8:91701508..91704271,2	K562	blood:

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000254251	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000123119	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10046610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092379	1.00[CEU][hapmap]
rs10102274	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504897	1.00[CEU][hapmap]
rs10504899	1.00[CEU][hapmap]
rs10504900	1.00[CEU][hapmap]
rs11986094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989315	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11994308	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905150	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16905331	1.00[CEU][hapmap]
rs28394575	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471253	1.00[CEU][hapmap]
rs6984689	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6994987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7011692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7013400	1.00[CEU][hapmap]
rs7017389	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301574	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301581	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305518	0.93[EUR][1000 genomes]
rs7815900	1.00[CEU][hapmap]
rs7823529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
3	chr8:91643200-91657200	Weak transcription	Gastric	stomach
4	chr8:91650800-91656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr8:91653400-91657000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
7	chr8:91653800-91657000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr8:91654200-91656800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:91654200-91656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:91654800-91657000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr8:91655000-91657000	Flanking Active TSS	Fetal Kidney	kidney
20	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
24	chr8:91655200-91658800	Active TSS	K562	blood
25	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
26	chr8:91655400-91656800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:91655400-91656800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr8:91655400-91656800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:91655400-91657000	Flanking Active TSS	HUVEC	blood vessel
30	chr8:91655400-91657200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr8:91655400-91657200	Flanking Active TSS	Osteobl	bone
32	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:91655400-91658800	Active TSS	Right Ventricle	heart
34	chr8:91655400-91659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:91655600-91656800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:91655600-91657000	Active TSS	HepG2	liver
37	chr8:91655600-91657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:91655600-91657200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:91655600-91657800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr8:91655600-91658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:91655600-91658600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr8:91655600-91658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:91655600-91658600	Active TSS	GM12878-XiMat	blood
44	chr8:91655600-91658600	Active TSS	HMEC	breast
45	chr8:91655600-91658800	Active TSS	NHDF-Ad	bronchial
46	chr8:91655600-91659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:91655600-91659000	Active TSS	HSMM	muscle
48	chr8:91655600-91659000	Active TSS	NHLF	lung
49	chr8:91655800-91656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:91655800-91656800	Weak transcription	Esophagus	oesophagus

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