Variant report

Variant	rs6996173
Chromosome Location	chr8:90924948-90924949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90917526..90919933-chr8:90923821..90925728,3	MCF-7	breast:
2	chr8:90922989..90925263-chr8:90933095..90935422,2	MCF-7	breast:
3	chr8:90920978..90923384-chr8:90924531..90926533,2	MCF-7	breast:
4	chr8:90769755..90771492-chr8:90924151..90926401,2	MCF-7	breast:
5	chr8:90923270..90927785-chr8:90927910..90932487,5	K562	blood:
6	chr8:90920379..90924050-chr8:90924527..90930361,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10090863	0.95[EUR][1000 genomes]
rs10096580	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10504885	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13312969	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13312970	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16901369	1.00[EUR][1000 genomes]
rs16901430	0.95[EUR][1000 genomes]
rs16901433	1.00[EUR][1000 genomes]
rs1805825	0.84[EUR][1000 genomes]
rs1805834	0.84[EUR][1000 genomes]
rs1805835	0.84[EUR][1000 genomes]
rs1805861	0.84[EUR][1000 genomes]
rs1805884	0.84[EUR][1000 genomes]
rs2280778	0.84[EUR][1000 genomes]
rs2284133	0.81[AFR][1000 genomes]
rs28371401	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28486026	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736640	0.84[EUR][1000 genomes]
rs58321776	1.00[EUR][1000 genomes]
rs58573572	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58922279	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60259111	1.00[EUR][1000 genomes]
rs60938698	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66854331	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6985934	0.84[EUR][1000 genomes]
rs7005991	0.84[EUR][1000 genomes]
rs7006318	0.84[EUR][1000 genomes]
rs73304457	1.00[EUR][1000 genomes]
rs73304468	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304476	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73304479	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304487	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297757	0.95[EUR][1000 genomes]
rs9656966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989385	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915400-90927200	Weak transcription	Spleen	Spleen
2	chr8:90915400-90966800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:90915600-90950800	Weak transcription	Stomach Mucosa	stomach
4	chr8:90915800-90927400	Weak transcription	Right Ventricle	heart
5	chr8:90915800-90930800	Weak transcription	Fetal Brain Female	brain
6	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
7	chr8:90916000-90961400	Weak transcription	Fetal Heart	heart
8	chr8:90916400-90926600	Weak transcription	HMEC	breast
9	chr8:90916400-90937000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:90916600-90969600	Weak transcription	Brain Substantia Nigra	brain
11	chr8:90917000-90928600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:90917000-90937000	Weak transcription	Psoas Muscle	Psoas
13	chr8:90917200-90927400	Weak transcription	Aorta	Aorta
14	chr8:90917600-90953600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:90917600-90975400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:90918800-90951800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:90919200-90936800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:90920600-90929200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:90921400-90929400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:90921400-90932000	Strong transcription	Hela-S3	cervix
21	chr8:90921800-90929400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:90921800-90941600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:90922000-90932000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:90922000-90932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:90922000-90932800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr8:90922200-90925600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:90922200-90927200	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr8:90922200-90927200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:90922200-90928000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:90922200-90928000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:90922200-90929400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:90922200-90929600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr8:90922200-90930000	Strong transcription	HSMM	muscle
34	chr8:90922200-90932000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:90922200-90932000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr8:90922200-90932400	Strong transcription	Adipose Nuclei	Adipose
37	chr8:90922200-90932600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:90922200-90938800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:90922400-90940000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:90922600-90925600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:90922600-90925800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:90922600-90927800	Strong transcription	Fetal Lung	lung
43	chr8:90922600-90927800	Strong transcription	Osteobl	bone
44	chr8:90922600-90928000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:90922600-90929200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:90922600-90929200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:90922600-90929400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:90922600-90929400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:90922600-90929400	Strong transcription	HUVEC	blood vessel
50	chr8:90922600-90929600	Strong transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links