Variant report

Variant	rs746747
Chromosome Location	chr8:124934558-124934559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124837742..124838705-chr8:124934495..124935209,2	MCF-7	breast:
2	chr8:124834856..124836291-chr8:124933990..124935310,7	MCF-7	breast:
3	chr8:124834349..124836501-chr8:124934060..124935501,22	MCF-7	breast:
4	chr8:124934471..124936352-chr8:124945543..124948252,2	K562	blood:
5	chr8:124835624..124840070-chr8:124931025..124937507,8	MCF-7	breast:
6	chr8:124933337..124936476-chr8:125016113..125019961,3	MCF-7	breast:
7	chr8:124788913..124789799-chr8:124934541..124935295,2	MCF-7	breast:
8	chr8:124929623..124931147-chr8:124932693..124935660,2	K562	blood:
9	chr8:124779448..124782514-chr8:124930705..124935453,7	MCF-7	breast:
10	chr8:124835258..124836544-chr8:124934356..124935690,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1007106	0.84[CHD][hapmap]
rs11987138	0.81[CEU][hapmap];0.85[ASN][1000 genomes]
rs11993828	1.00[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13252473	0.87[CEU][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs13259104	0.83[CEU][hapmap]
rs13260693	0.82[EUR][1000 genomes]
rs13267281	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13277597	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[EUR][1000 genomes]
rs13280610	0.88[CEU][hapmap];0.91[TSI][hapmap]
rs16893054	0.81[CEU][hapmap];0.98[CHD][hapmap];0.85[ASN][1000 genomes]
rs16899008	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs16899027	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16899029	0.92[CEU][hapmap];0.95[CHD][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16899037	0.85[ASN][1000 genomes]
rs16899040	0.83[ASN][1000 genomes]
rs16899044	0.85[ASN][1000 genomes]
rs16899047	0.85[ASN][1000 genomes]
rs16899115	0.83[CEU][hapmap]
rs34895349	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34943415	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35444607	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4242352	0.83[CEU][hapmap]
rs4285467	1.00[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4285468	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4355755	0.81[CEU][hapmap];0.98[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4472497	1.00[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4478556	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4509302	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4537289	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4587311	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4596635	0.81[CEU][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4870873	0.80[EUR][1000 genomes]
rs4870875	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4870876	0.85[ASN][1000 genomes]
rs4870878	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4870879	1.00[CEU][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4870881	0.83[CEU][hapmap]
rs4871417	0.92[CEU][hapmap];0.83[CHD][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs4871421	0.92[CEU][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871422	0.92[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4871423	0.85[ASN][1000 genomes]
rs4871424	0.80[CEU][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4871425	0.81[CEU][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4871426	0.81[CEU][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs4871429	0.84[CHD][hapmap]
rs4871435	0.84[CHD][hapmap]
rs4871436	0.84[CHD][hapmap]
rs4871437	0.84[CHD][hapmap]
rs4871443	0.83[CEU][hapmap]
rs4871444	0.83[CEU][hapmap]
rs4871448	0.83[CEU][hapmap]
rs55834043	0.85[ASN][1000 genomes]
rs66846856	0.82[EUR][1000 genomes]
rs67648121	0.81[EUR][1000 genomes]
rs6984557	0.84[CHD][hapmap]
rs7005131	0.81[EUR][1000 genomes]
rs746745	0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs746746	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7821233	0.81[CEU][hapmap];0.98[CHD][hapmap];0.85[ASN][1000 genomes]
rs7822699	0.82[EUR][1000 genomes]
rs7826291	1.00[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7837892	0.81[CEU][hapmap];0.85[ASN][1000 genomes]
rs7838437	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7838453	0.84[CHD][hapmap]
rs7842762	0.84[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612143	chr8:124927711-124988267	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs746747	FAM84B	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124931000-124934600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:124931400-124936000	Enhancers	Fetal Intestine Large	intestine
3	chr8:124932600-124935800	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:124932800-124934600	Enhancers	Stomach Mucosa	stomach
5	chr8:124932800-124935000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:124933600-124935400	Enhancers	Placenta	Placenta
7	chr8:124933800-124934600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr8:124933800-124934800	Enhancers	Brain Germinal Matrix	brain
9	chr8:124933800-124934800	Enhancers	Esophagus	oesophagus
10	chr8:124933800-124935400	Enhancers	Gastric	stomach
11	chr8:124933800-124935400	Enhancers	Lung	lung
12	chr8:124933800-124935600	Enhancers	HUVEC	blood vessel
13	chr8:124934000-124934600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:124934000-124934600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:124934000-124934600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr8:124934000-124934600	Enhancers	NHEK	skin
17	chr8:124934000-124934800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:124934000-124934800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:124934000-124934800	Enhancers	Fetal Stomach	stomach
20	chr8:124934000-124934800	Enhancers	Left Ventricle	heart
21	chr8:124934000-124934800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr8:124934000-124935000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:124934000-124935000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr8:124934000-124935000	Active TSS	Primary B cells from cord blood	blood
25	chr8:124934000-124935000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:124934000-124935000	Enhancers	Fetal Thymus	thymus
27	chr8:124934000-124935000	Enhancers	Spleen	Spleen
28	chr8:124934000-124935000	Enhancers	HSMMtube	muscle
29	chr8:124934000-124935000	Enhancers	NH-A	brain
30	chr8:124934000-124935200	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:124934000-124935200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:124934000-124935200	Enhancers	Fetal Heart	heart
33	chr8:124934000-124935200	Flanking Active TSS	K562	blood
34	chr8:124934000-124935200	Enhancers	NHDF-Ad	bronchial
35	chr8:124934000-124935200	Enhancers	NHLF	lung
36	chr8:124934000-124935400	Enhancers	HSMM	muscle
37	chr8:124934200-124934600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:124934200-124934600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:124934200-124934600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:124934200-124934600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:124934200-124934600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:124934200-124934600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:124934200-124934600	Enhancers	Brain Angular Gyrus	brain
44	chr8:124934200-124934600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr8:124934200-124934600	Flanking Active TSS	Colonic Mucosa	Colon
46	chr8:124934200-124934600	Active TSS	Colon Smooth Muscle	Colon
47	chr8:124934200-124934600	Enhancers	HMEC	breast
48	chr8:124934200-124934800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:124934200-124934800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr8:124934200-124934800	Active TSS	Primary T cells from cord blood	blood

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