Variant report

Variant	rs4339599
Chromosome Location	chr8:91656208-91656209
allele	A/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	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
4	MAFK	chr8:91656092-91657931	Hela-S3	cervix:	n/a	chr8:91656625-91656640 chr8:91656695-91656715 chr8:91656697-91656713 chr8:91656698-91656712
5	POLR2A	chr8:91655703-91659084	PBDE	blood:	n/a	n/a
6	CHD1	chr8:91656074-91657883	H1-hESC	embryonic stem cell:	n/a	n/a
7	GATA1	chr8:91655355-91656413	PBDE	blood:	n/a	chr8:91656062-91656071 chr8:91656058-91656074 chr8:91656158-91656169 chr8:91656060-91656072 chr8:91656061-91656071 chr8:91656062-91656069

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
2	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
3	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
4	chr8:91654051..91656885-chr8:91803019..91806273,4	MCF-7	breast:
5	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
6	chr8:91654238..91656466-chr8:91898414..91902321,3	MCF-7	breast:
7	chr1:148551689..148553577-chr8:91655255..91657284,2	MCF-7	breast:
8	chr8:91655211..91656811-chr8:91701508..91704271,2	K562	blood:

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000255112	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000123119	Chromatin interaction
ENSG00000104312	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];0.92[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]
rs4500048	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];1.00[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:122 , 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	chr8:91652400-91656400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:91653000-91656400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:91653400-91656400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:91653400-91657000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
12	chr8:91653600-91656600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:91653800-91657000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr8:91654200-91656400	Enhancers	Fetal Brain Male	brain
18	chr8:91654200-91656600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:91654200-91656800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr8:91654200-91656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:91654400-91656600	Enhancers	Stomach Mucosa	stomach
24	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:91654600-91656400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:91654800-91656400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:91654800-91656600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:91654800-91657000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr8:91655000-91657000	Flanking Active TSS	Fetal Kidney	kidney
32	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:91655200-91656600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr8:91655200-91656600	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
38	chr8:91655200-91658800	Active TSS	K562	blood
39	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
40	chr8:91655400-91656400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:91655400-91656400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr8:91655400-91656400	Enhancers	Brain Germinal Matrix	brain
43	chr8:91655400-91656600	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr8:91655400-91656800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:91655400-91656800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr8:91655400-91656800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr8:91655400-91657000	Flanking Active TSS	HUVEC	blood vessel
48	chr8:91655400-91657200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr8:91655400-91657200	Flanking Active TSS	Osteobl	bone
50	chr8:91655400-91658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links