Variant report

Variant	rs4500048
Chromosome Location	chr8:91656421-91656422
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	SIN3AK20	chr8:91654807-91658067	MCF-7	breast:	n/a	n/a
2	TBL1XR1	chr8:91655666-91656779	K562	blood:	n/a	n/a
3	MXI1	chr8:91656257-91659013	IMR90	lung:	n/a	n/a
4	SIN3AK20	chr8:91656302-91659215	MCF-7	breast:	n/a	n/a
5	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
6	SIN3A	chr8:91656397-91659016	H1-hESC	embryonic stem cell:	n/a	chr8:91658167-91658178 chr8:91658398-91658409 chr8:91658151-91658162
7	MXI1	chr8:91656305-91659242	SK-N-SH	brain:	n/a	n/a
8	MAFK	chr8:91656092-91657931	Hela-S3	cervix:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
9	POLR2A	chr8:91655703-91659084	PBDE	blood:	n/a	n/a
10	POLR2A	chr8:91656417-91659146	GM12891	blood:	n/a	n/a
11	CHD1	chr8:91656074-91657883	H1-hESC	embryonic stem cell:	n/a	n/a

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	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
4	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
5	chr8:91654051..91656885-chr8:91803019..91806273,4	MCF-7	breast:
6	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
7	chr8:91654238..91656466-chr8:91898414..91902321,3	MCF-7	breast:
8	chr1:148551689..148553577-chr8:91655255..91657284,2	MCF-7	breast:
9	chr8:91655211..91656811-chr8:91701508..91704271,2	K562	blood:

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000180694	Chromatin interaction
ENSG00000123119	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000048828	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];0.92[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];0.96[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];1.00[GIH][hapmap]
rs10504899	1.00[CEU][hapmap]
rs10504900	1.00[CEU][hapmap]
rs11986094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989315	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];1.00[GIH][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]
rs4265146	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]
rs4339599	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][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	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][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];1.00[GIH][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];1.00[GIH][hapmap]
rs7823529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][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:123 , 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	chr8:91647800-91656600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:91650800-91656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:91652200-91656600	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:91653400-91657000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr8:91653600-91656600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:91653800-91657000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr8:91654200-91656600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:91654200-91656800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr8:91654200-91656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:91654400-91656600	Enhancers	Stomach Mucosa	stomach
20	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:91654800-91656600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr8:91654800-91657000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:91655000-91657000	Flanking Active TSS	Fetal Kidney	kidney
26	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:91655200-91656600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:91655200-91656600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
32	chr8:91655200-91658800	Active TSS	K562	blood
33	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
34	chr8:91655400-91656600	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr8:91655400-91656800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:91655400-91656800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr8:91655400-91656800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:91655400-91657000	Flanking Active TSS	HUVEC	blood vessel
39	chr8:91655400-91657200	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr8:91655400-91657200	Flanking Active TSS	Osteobl	bone
41	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:91655400-91658800	Active TSS	Right Ventricle	heart
43	chr8:91655400-91659000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:91655600-91656600	Flanking Active TSS	A549	lung
45	chr8:91655600-91656800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:91655600-91657000	Active TSS	HepG2	liver
47	chr8:91655600-91657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:91655600-91657200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:91655600-91657800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:91655600-91658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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