Variant report

Variant	rs6992421
Chromosome Location	chr8:131175533-131175534
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16904217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6982831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6992854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6996435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7010678	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73409328	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7812798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7816822	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
3	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:131146600-131178800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
8	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:131149000-131178400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:131149200-131178600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:131152000-131181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:131152200-131182200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
17	chr8:131155600-131177600	Strong transcription	A549	lung
18	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
19	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
20	chr8:131157600-131180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:131157800-131176200	Strong transcription	Placenta	Placenta
22	chr8:131158000-131178600	Weak transcription	Hela-S3	cervix
23	chr8:131158200-131176000	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:131162600-131189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
27	chr8:131164200-131175800	Strong transcription	NHLF	lung
28	chr8:131164200-131177400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:131164200-131186000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:131164400-131177000	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:131164400-131177200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:131164400-131177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
34	chr8:131165000-131177200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:131165400-131194200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:131165800-131176400	Strong transcription	Osteobl	bone
37	chr8:131165800-131177000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr8:131165800-131181600	Strong transcription	Adipose Nuclei	Adipose
39	chr8:131166200-131175800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:131166200-131176000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:131166200-131176200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:131166200-131177200	Strong transcription	NHDF-Ad	bronchial
43	chr8:131166200-131182200	Strong transcription	NH-A	brain
44	chr8:131166200-131193400	Strong transcription	Primary T cells from cord blood	blood
45	chr8:131166200-131194000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:131166400-131176000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:131166600-131175600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:131167200-131176000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:131167400-131181000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:131168000-131176200	Strong transcription	HSMM	muscle

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