Variant report

Variant	rs6994642
Chromosome Location	chr8:61723777-61723778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088263	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1038353	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10957153	0.81[GIH][hapmap];0.92[TSI][hapmap]
rs10957159	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10957160	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11775560	0.83[ASN][1000 genomes]
rs12056700	0.82[ASN][1000 genomes]
rs13255052	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13256023	1.00[JPT][hapmap]
rs13278198	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2326597	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34022185	0.82[ASN][1000 genomes]
rs34345692	0.82[ASN][1000 genomes]
rs35149496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35254359	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35687554	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35914442	0.82[ASN][1000 genomes]
rs6471900	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471903	0.81[LWK][hapmap];0.83[YRI][hapmap]
rs6471904	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67670110	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6987611	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6988835	0.85[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6989150	0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7460516	0.82[ASN][1000 genomes]
rs7823926	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7833957	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7846314	0.84[ASN][1000 genomes]

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
3	chr8:61696400-61736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:61704400-61745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:61705400-61728200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:61705600-61725800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:61705600-61726600	Weak transcription	Right Ventricle	heart
8	chr8:61705600-61728000	Weak transcription	Small Intestine	intestine
9	chr8:61705600-61742400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:61705600-61742600	Weak transcription	Spleen	Spleen
11	chr8:61705600-61743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:61705600-61743000	Weak transcription	Fetal Stomach	stomach
13	chr8:61705600-61743000	Weak transcription	Lung	lung
14	chr8:61705800-61733400	Weak transcription	Adipose Nuclei	Adipose
15	chr8:61705800-61735000	Weak transcription	Brain Substantia Nigra	brain
16	chr8:61705800-61742400	Weak transcription	Gastric	stomach
17	chr8:61705800-61755000	Weak transcription	Psoas Muscle	Psoas
18	chr8:61708800-61736400	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:61708800-61739000	Weak transcription	A549	lung
20	chr8:61709600-61728200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:61709800-61725200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:61711000-61742400	Weak transcription	Pancreas	Pancrea
23	chr8:61711800-61743800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:61712000-61734400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:61714200-61725200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr8:61718200-61740400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:61718200-61749400	Weak transcription	Fetal Kidney	kidney
28	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:61719600-61725000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:61720400-61742400	Weak transcription	NH-A	brain
31	chr8:61720600-61727200	Weak transcription	HUVEC	blood vessel
32	chr8:61720600-61728200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:61720600-61742400	Weak transcription	Fetal Brain Female	brain
34	chr8:61720800-61723800	Weak transcription	Brain Germinal Matrix	brain
35	chr8:61720800-61724200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:61720800-61725000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:61720800-61726000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:61720800-61726800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:61720800-61727400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:61720800-61728000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:61720800-61752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:61721000-61724200	Strong transcription	Fetal Intestine Large	intestine
43	chr8:61721000-61724600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:61721000-61726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:61721000-61726200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:61721000-61727200	Strong transcription	Primary B cells from cord blood	blood
47	chr8:61721000-61727400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:61721200-61724400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:61721200-61725800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr8:61721400-61727600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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