Variant report

Variant	rs6986033
Chromosome Location	chr8:125909292-125909293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125900915..125903416-chr8:125906634..125910674,4	K562	blood:
2	chr8:125908171..125909770-chr8:125964003..125966026,2	MCF-7	breast:
3	chr8:125901791..125903358-chr8:125908573..125910554,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10956222	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1820535	0.93[ASN][1000 genomes]
rs1820536	0.93[ASN][1000 genomes]
rs28890850	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57346531	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59588340	0.94[ASN][1000 genomes]
rs61634814	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470320	0.90[EUR][1000 genomes]
rs6470322	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6993611	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6998268	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7009755	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7464059	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7821961	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7834130	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125903000-125911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125907000-125911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:125907400-125909400	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:125907400-125910600	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:125907600-125909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:125907600-125910600	Enhancers	Primary B cells from cord blood	blood
9	chr8:125907800-125909400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:125908000-125909400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:125908000-125909400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:125908000-125909400	Enhancers	Adipose Nuclei	Adipose
13	chr8:125908000-125909400	Enhancers	Fetal Intestine Small	intestine
14	chr8:125908000-125909600	Enhancers	Primary T cells from cord blood	blood
15	chr8:125908200-125909400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:125908200-125909400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:125908200-125909600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:125908400-125909400	Enhancers	Fetal Heart	heart
19	chr8:125908600-125909400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr8:125908600-125909400	Enhancers	Spleen	Spleen
21	chr8:125908800-125909400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr8:125908800-125909400	Enhancers	Fetal Thymus	thymus
23	chr8:125908800-125909400	Flanking Active TSS	K562	blood
24	chr8:125909000-125909600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:125909000-125909800	Bivalent Enhancer	HepG2	liver
26	chr8:125909000-125914000	Weak transcription	Fetal Intestine Large	intestine
27	chr8:125909200-125909400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:125909200-125909400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:125909200-125909400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:125909200-125909400	Enhancers	Placenta	Placenta
31	chr8:125909200-125909400	Enhancers	Left Ventricle	heart
32	chr8:125909200-125909400	Bivalent Enhancer	HUVEC	blood vessel
33	chr8:125909200-125909600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:125909200-125909600	Enhancers	Liver	Liver
35	chr8:125909200-125909800	Enhancers	Esophagus	oesophagus
36	chr8:125909200-125910200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:125909200-125911000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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