Variant report

Variant	rs6981708
Chromosome Location	chr8:131465180-131465181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131464873..131467806-chr8:131470605..131472782,2	K562	blood:
2	chr8:131454459..131461089-chr8:131462437..131468873,11	MCF-7	breast:
3	chr8:131432091..131434122-chr8:131465093..131468070,2	MCF-7	breast:
4	chr8:131454950..131456804-chr8:131463312..131466005,3	MCF-7	breast:
5	chr8:131464964..131467866-chr8:131510024..131511695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11774346	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11774901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11775172	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11775309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11776732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11776768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11778504	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778593	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778712	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11778881	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11781211	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11783764	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11784477	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11784842	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785125	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11785172	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11786205	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56162445	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56350423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6981861	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6982030	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6992270	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7011034	0.82[EUR][1000 genomes]
rs72724412	0.81[AMR][1000 genomes]
rs72724414	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724419	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724421	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724426	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724437	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72724446	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72724447	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724449	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724450	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724451	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724452	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724453	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724454	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724455	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724460	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724461	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724473	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724487	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72724502	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726203	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72726204	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726205	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726216	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726217	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72726220	0.90[EUR][1000 genomes]
rs72726223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726225	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72726226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72726234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72726240	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726241	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72726244	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7461213	0.82[EUR][1000 genomes]
rs7461215	0.82[EUR][1000 genomes]
rs7826256	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7836273	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs929990	1.00[AFR][1000 genomes];0.87[AMR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131458200-131465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:131459000-131468800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:131459200-131465600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:131459200-131468200	Weak transcription	Fetal Heart	heart
5	chr8:131461400-131470000	Weak transcription	HMEC	breast
6	chr8:131462000-131468600	Weak transcription	NHLF	lung
7	chr8:131462200-131468800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:131463200-131465400	Enhancers	HUVEC	blood vessel
9	chr8:131463600-131465800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:131464000-131465200	Enhancers	Fetal Kidney	kidney
11	chr8:131464000-131465400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:131464000-131465800	Enhancers	Fetal Lung	lung
13	chr8:131464000-131465800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:131464000-131466000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:131464000-131466000	Enhancers	Fetal Stomach	stomach
16	chr8:131464200-131465600	Weak transcription	HSMMtube	muscle
17	chr8:131464400-131465600	Weak transcription	Placenta	Placenta
18	chr8:131464400-131468600	Weak transcription	NHDF-Ad	bronchial
19	chr8:131464400-131468800	Weak transcription	HSMM	muscle
20	chr8:131464600-131465200	Enhancers	Adipose Nuclei	Adipose
21	chr8:131464600-131465800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:131464800-131465600	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:131464800-131468600	Weak transcription	NH-A	brain
24	chr8:131464800-131468600	Weak transcription	Osteobl	bone
25	chr8:131464800-131470000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:131465000-131465400	Flanking Active TSS	GM12878-XiMat	blood
27	chr8:131465000-131465600	Enhancers	Pancreatic Islets	Pancreatic Islet

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