Variant report

Variant	rs7766863
Chromosome Location	chr6:86354897-86354898
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	TCF12	chr6:86354855-86355336	A549	lung:	n/a	n/a
2	USF1	chr6:86354897-86355300	A549	lung:	n/a	chr6:86355109-86355120
3	USF1	chr6:86354886-86355319	A549	lung:	n/a	chr6:86355109-86355120
4	USF1	chr6:86354828-86355349	A549	lung:	n/a	chr6:86355109-86355120
5	HEY1	chr6:86354754-86355175	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:86351756-86354934	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:86351309-86355183	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr6:86354885-86355362	A549	lung:	n/a	n/a
9	USF1	chr6:86354896-86355286	H1-hESC	embryonic stem cell:	n/a	chr6:86355109-86355120
10	MAX	chr6:86354885-86355432	A549	lung:	n/a	n/a
11	USF1	chr6:86354857-86355504	HCT-116	colon:	n/a	chr6:86355109-86355120
12	USF1	chr6:86354896-86355289	A549	lung:	n/a	chr6:86355109-86355120

No.	Distal block	Cell Line	Cell type
1	chr6:86338689..86357756-chr6:86378394..86390434,115	MCF-7	breast:
2	chr6:86320215..86324957-chr6:86350476..86355138,8	MCF-7	breast:
3	chr6:86299824..86305374-chr6:86350530..86356322,11	MCF-7	breast:
4	chr6:86300873..86305245-chr6:86347697..86356641,19	K562	blood:
5	chr6:86300457..86307827-chr6:86347697..86356337,20	K562	blood:
6	chr15:45670796..45672296-chr6:86353314..86354922,2	MCF-7	breast:
7	chr6:86301331..86304881-chr6:86350851..86355985,12	MCF-7	breast:
8	chr6:86350291..86355305-chr6:86366070..86378212,20	MCF-7	breast:
9	chr6:86262845..86265792-chr6:86354340..86355847,2	K562	blood:

Variant related genes	Relation type
SYNCRIP	TF binding region
ENSG00000135317	Chromatin interaction
ENSG00000271793	Chromatin interaction
ENSG00000220563	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000171766	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13192070	0.88[ASN][1000 genomes]
rs13194512	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13198956	0.85[ASN][1000 genomes]
rs16876340	0.86[ASN][1000 genomes]
rs16876385	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1793	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34898046	0.86[ASN][1000 genomes]
rs34936540	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35694036	0.83[ASN][1000 genomes]
rs36088473	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3900740	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4707213	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55648312	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55810446	0.84[AMR][1000 genomes]
rs67493405	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6906121	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6909402	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6909654	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71570763	0.86[ASN][1000 genomes]
rs71570764	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7738371	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7740830	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7742792	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7771577	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	esv3397854	chr6:86352258-86355106	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1028293	chr6:86353958-86778912	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
6	nsv538350	chr6:86353958-86778912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86350400-86355200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:86350400-86355200	Active TSS	Psoas Muscle	Psoas
3	chr6:86350600-86355000	Active TSS	HSMMtube	muscle
4	chr6:86350600-86355200	Active TSS	Stomach Smooth Muscle	stomach
5	chr6:86350600-86355600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:86350800-86355200	Active TSS	Colonic Mucosa	Colon
7	chr6:86350800-86355200	Active TSS	A549	lung
8	chr6:86351000-86355000	Active TSS	Rectal Smooth Muscle	rectum
9	chr6:86351200-86355000	Active TSS	Colon Smooth Muscle	Colon
10	chr6:86351200-86355000	Active TSS	HSMM	muscle
11	chr6:86351200-86355400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:86351600-86355000	Active TSS	Placenta	Placenta
13	chr6:86352600-86355000	Active TSS	HepG2	liver
14	chr6:86353000-86355000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:86353000-86355000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:86353000-86355200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr6:86353800-86355000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:86353800-86355200	Active TSS	Right Atrium	heart
19	chr6:86354000-86355600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:86354200-86355000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:86354200-86355000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:86354200-86355200	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:86354200-86355400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:86354200-86374400	Weak transcription	Left Ventricle	heart
25	chr6:86354400-86355000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr6:86354400-86355200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr6:86354400-86355200	Enhancers	Fetal Heart	heart
28	chr6:86354400-86355200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:86354400-86355400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:86354400-86355400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:86354400-86355400	Enhancers	Fetal Brain Male	brain
32	chr6:86354400-86355600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:86354600-86355000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:86354600-86355000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:86354600-86355000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:86354600-86355000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:86354600-86355000	Active TSS	Primary T cells from cord blood	blood
38	chr6:86354600-86355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:86354600-86355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:86354600-86355000	Enhancers	Adipose Nuclei	Adipose
41	chr6:86354600-86355000	Enhancers	Fetal Lung	lung
42	chr6:86354600-86355000	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:86354600-86355000	Enhancers	GM12878-XiMat	blood
44	chr6:86354600-86355000	Active TSS	Hela-S3	cervix
45	chr6:86354600-86355000	Active TSS	HUVEC	blood vessel
46	chr6:86354600-86355200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr6:86354600-86355200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr6:86354600-86355200	Active TSS	Primary B cells from cord blood	blood
49	chr6:86354600-86355200	Enhancers	Primary hematopoietic stem cells	blood
50	chr6:86354600-86355200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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