Variant report

Variant	rs6468851
Chromosome Location	chr8:103974242-103974243
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	chr8:103973652-103974260	H1-hESC	embryonic stem cell:	n/a	chr8:103974126-103974137 chr8:103974127-103974136 chr8:103974127-103974136 chr8:103974127-103974137 chr8:103974125-103974138 chr8:103974127-103974137 chr8:103974126-103974136 chr8:103974125-103974138 chr8:103974126-103974137 chr8:103974127-103974136 chr8:103973896-103973905 chr8:103974126-103974136 chr8:103974123-103974138 chr8:103974126-103974135 chr8:103974125-103974135 chr8:103974126-103974137
2	MYC	chr8:103973767-103974321	NB4	blood:	n/a	chr8:103974126-103974137 chr8:103974127-103974136 chr8:103974127-103974136 chr8:103974127-103974137 chr8:103974125-103974138 chr8:103974127-103974137 chr8:103974126-103974136 chr8:103974125-103974138 chr8:103974126-103974137 chr8:103974127-103974136 chr8:103973896-103973905 chr8:103974126-103974136 chr8:103974123-103974138 chr8:103974126-103974135 chr8:103974125-103974135 chr8:103974126-103974137
3	USF2	chr8:103974003-103974321	GM12878	blood:	n/a	n/a
4	USF1	chr8:103974019-103974295	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr8:103973739-103974334	NB4	blood:	n/a	chr8:103974126-103974137 chr8:103974127-103974136 chr8:103974127-103974136 chr8:103974127-103974137 chr8:103974125-103974138 chr8:103974127-103974137 chr8:103974126-103974136 chr8:103974125-103974138 chr8:103974126-103974137 chr8:103974127-103974136 chr8:103973896-103973905 chr8:103974126-103974136 chr8:103974123-103974138 chr8:103974126-103974135 chr8:103974125-103974135 chr8:103974126-103974137
6	MAX	chr8:103973439-103974360	H1-hESC	embryonic stem cell:	n/a	chr8:103974126-103974137 chr8:103974127-103974136 chr8:103974127-103974136 chr8:103974127-103974137 chr8:103974125-103974138 chr8:103974127-103974137 chr8:103974126-103974136 chr8:103974125-103974138 chr8:103974126-103974137 chr8:103974127-103974136 chr8:103973896-103973905 chr8:103974126-103974136 chr8:103974123-103974138 chr8:103974126-103974135 chr8:103974125-103974135 chr8:103974126-103974137
7	USF1	chr8:103973915-103974352	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOXM1	chr8:103973791-103974349	GM12878	blood:	n/a	n/a
9	MTA3	chr8:103973550-103974321	GM12878	blood:	n/a	n/a
10	EP300	chr8:103973832-103974259	GM12878	blood:	n/a	n/a
11	RUNX3	chr8:103973625-103974419	GM12878	blood:	n/a	n/a
12	USF2	chr8:103974070-103974253	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF1	chr8:103973941-103974271	GM12878	blood:	n/a	n/a
14	TCF3	chr8:103973819-103974326	GM12878	blood:	n/a	n/a
15	ATF2	chr8:103973698-103974445	GM12878	blood:	n/a	n/a
16	YY1	chr8:103973955-103974256	GM12891	blood:	n/a	n/a
17	RUNX3	chr8:103973593-103974419	GM12878	blood:	n/a	n/a
18	KAP1	chr8:103973540-103974254	HEK293	kidney:	n/a	n/a
19	MXI1	chr8:103973637-103974292	H1-hESC	embryonic stem cell:	n/a	chr8:103974128-103974137 chr8:103974128-103974137 chr8:103974126-103974135
20	MXI1	chr8:103973808-103974267	GM12878	blood:	n/a	chr8:103974128-103974137 chr8:103974128-103974137 chr8:103974126-103974135
21	MAX	chr8:103973731-103974308	GM12878	blood:	n/a	chr8:103974126-103974137 chr8:103974127-103974136 chr8:103974127-103974136 chr8:103974127-103974137 chr8:103974125-103974138 chr8:103974127-103974137 chr8:103974126-103974136 chr8:103974125-103974138 chr8:103974126-103974137 chr8:103974127-103974136 chr8:103973896-103973905 chr8:103974126-103974136 chr8:103974123-103974138 chr8:103974126-103974135 chr8:103974125-103974135 chr8:103974126-103974137

No.	Distal block	Cell Line	Cell type
1	chr8:103875112..103879316-chr8:103972204..103974673,4	MCF-7	breast:
2	chr8:103874782..103876316-chr8:103973931..103975682,2	MCF-7	breast:
3	chr8:103937164..103938846-chr8:103972423..103974367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265898	TF binding region
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10086253	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092859	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113831	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775791	1.00[ASN][1000 genomes]
rs16869913	0.81[AFR][1000 genomes]
rs16869922	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869925	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869926	1.00[ASN][1000 genomes]
rs2458286	0.85[YRI][hapmap]
rs6468854	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468855	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468856	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984955	1.00[ASN][1000 genomes]
rs6990190	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816287	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827768	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828471	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837635	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840911	0.91[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv465752	chr8:103953990-103979714	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv611823	chr8:103953990-103979714	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103973200-103974400	Enhancers	Ovary	ovary
2	chr8:103973200-103975200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:103973400-103974400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr8:103973400-103974400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:103973400-103974400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:103973400-103974400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:103973400-103974400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:103973400-103974400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:103973400-103974600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:103973400-103974600	Enhancers	Brain Hippocampus Middle	brain
11	chr8:103973400-103974800	Enhancers	Thymus	Thymus
12	chr8:103973400-103974800	Enhancers	GM12878-XiMat	blood
13	chr8:103973400-103975000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:103973600-103974400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:103973600-103974400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:103973600-103974400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:103973600-103974400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:103973600-103974400	Enhancers	Brain Angular Gyrus	brain
19	chr8:103973600-103974400	Enhancers	Placenta	Placenta
20	chr8:103973600-103974400	Enhancers	Lung	lung
21	chr8:103973600-103974400	Enhancers	Pancreas	Pancrea
22	chr8:103973600-103974400	Enhancers	HSMMtube	muscle
23	chr8:103973600-103974400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr8:103973600-103974400	Enhancers	NH-A	brain
25	chr8:103973600-103974600	Enhancers	Brain Substantia Nigra	brain
26	chr8:103973600-103974600	Enhancers	HSMM	muscle
27	chr8:103973600-103974800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:103973600-103974800	Enhancers	Fetal Kidney	kidney
29	chr8:103973600-103975000	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:103973600-103975400	Enhancers	Fetal Thymus	thymus
31	chr8:103973800-103974400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:103973800-103974400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:103973800-103974400	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:103973800-103974400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr8:103973800-103974800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:103973800-103974800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:103974000-103974400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:103974000-103974400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:103974000-103974400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:103974000-103974400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr8:103974000-103974600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:103974000-103978000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:103974200-103974400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:103974200-103974400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr8:103974200-103974600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:103974200-103974800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:103974200-103977600	Weak transcription	Adipose Nuclei	Adipose
48	chr8:103974200-103977800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:103974200-103977800	Weak transcription	Brain Anterior Caudate	brain
50	chr8:103974200-103979800	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links