Variant report

Variant	rs7009724
Chromosome Location	chr8:8939125-8939126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
2	chr8:8932762..8934557-chr8:8938134..8939929,2	MCF-7	breast:
3	chr8:8935137..8938110-chr8:8938203..8940506,3	MCF-7	breast:
4	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10090227	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10090834	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10093648	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1045527	1.00[CHB][hapmap]
rs10503389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11785819	1.00[CHB][hapmap]
rs13274593	0.87[ASN][1000 genomes]
rs17646349	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17646897	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17703328	0.87[ASN][1000 genomes]
rs17703572	0.87[ASN][1000 genomes]
rs34277204	1.00[ASN][1000 genomes]
rs34443356	0.87[ASN][1000 genomes]
rs34762233	0.87[ASN][1000 genomes]
rs34968542	1.00[ASN][1000 genomes]
rs35973329	0.87[ASN][1000 genomes]
rs36022127	0.87[ASN][1000 genomes]
rs55686280	0.87[ASN][1000 genomes]
rs6601283	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748	1.00[CHB][hapmap]
rs6983411	1.00[ASN][1000 genomes]
rs6985627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990455	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992247	1.00[ASN][1000 genomes]
rs7000799	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7007456	1.00[ASN][1000 genomes]
rs7011476	0.87[ASN][1000 genomes]
rs7017868	1.00[CHB][hapmap]
rs7018100	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650616	1.00[CHB][hapmap]
rs9650617	0.87[ASN][1000 genomes]
rs9657508	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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv518456	chr8:8939125-8948469	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7009724	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
2	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
3	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
4	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
5	chr8:8932600-8939600	Weak transcription	Ovary	ovary
6	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
7	chr8:8932800-8939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
9	chr8:8933000-8939400	Enhancers	K562	blood
10	chr8:8933200-8939400	Weak transcription	Fetal Lung	lung
11	chr8:8933200-8939600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:8933600-8939200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:8934200-8940000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:8935000-8939600	Weak transcription	NHLF	lung
15	chr8:8935200-8939400	Weak transcription	HSMM	muscle
16	chr8:8935200-8939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:8935400-8939400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:8935400-8939400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:8935400-8939400	Weak transcription	NH-A	brain
20	chr8:8935400-8939600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:8935400-8939600	Weak transcription	HSMMtube	muscle
22	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:8935600-8939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:8935600-8939600	Weak transcription	Psoas Muscle	Psoas
25	chr8:8935600-8939600	Weak transcription	Right Atrium	heart
26	chr8:8935800-8940000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:8936000-8940400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:8936200-8940000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr8:8936200-8940400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:8936400-8940400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:8936600-8939200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:8936600-8939600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:8936800-8939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:8937000-8939200	Weak transcription	Adipose Nuclei	Adipose
35	chr8:8937000-8939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:8937400-8940400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:8937400-8940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:8937400-8943400	Enhancers	Hela-S3	cervix
39	chr8:8937600-8939400	Enhancers	HUVEC	blood vessel
40	chr8:8937800-8940400	Enhancers	Small Intestine	intestine
41	chr8:8937800-8940800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:8937800-8940800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:8938000-8939400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:8938000-8939400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:8938000-8939400	Weak transcription	NHDF-Ad	bronchial
46	chr8:8938000-8939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:8938000-8940400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:8938000-8940400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:8938000-8945200	Weak transcription	Placenta	Placenta
50	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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