Variant report

Variant	rs9382154
Chromosome Location	chr6:13496604-13496605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13494194..13498063-chr6:13500323..13502186,3	K562	blood:
2	chr6:13494551..13497171-chr6:13614158..13616088,2	MCF-7	breast:
3	chr6:13483604..13490047-chr6:13490051..13499001,13	K562	blood:
4	chr6:13491461..13493545-chr6:13494855..13497740,2	K562	blood:
5	chr6:13464385..13467011-chr6:13494544..13496840,2	MCF-7	breast:
6	chr6:13495546..13497355-chr6:13501574..13503680,2	MCF-7	breast:
7	chr6:13484690..13488441-chr6:13493380..13497867,6	MCF-7	breast:
8	chr6:13483604..13488920-chr6:13494786..13499283,6	K562	blood:
9	chr6:13495505..13498857-chr6:13499271..13502154,4	K562	blood:
10	chr6:13491132..13493545-chr6:13494855..13497448,2	K562	blood:
11	chr6:13493859..13496685-chr6:13512133..13514978,2	K562	blood:
12	chr6:13485790..13488663-chr6:13495675..13498317,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261071	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11759779	0.81[ASN][1000 genomes]
rs2059804	0.87[ASW][hapmap];0.87[YRI][hapmap]
rs2115063	0.82[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2560777	0.81[EUR][1000 genomes]
rs2560778	0.81[EUR][1000 genomes]
rs2560780	0.83[EUR][1000 genomes]
rs2560781	0.84[EUR][1000 genomes]
rs2560789	0.92[CEU][hapmap];0.93[GIH][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs2560790	0.92[CEU][hapmap];0.93[GIH][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs2560796	0.85[EUR][1000 genomes]
rs2560799	0.83[EUR][1000 genomes]
rs2841530	0.81[EUR][1000 genomes]
rs2841533	0.83[EUR][1000 genomes]
rs2841535	0.84[EUR][1000 genomes]
rs2841540	0.86[EUR][1000 genomes]
rs2841548	0.92[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2841549	0.92[CEU][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4340988	0.84[EUR][1000 genomes]
rs4512205	0.82[EUR][1000 genomes]
rs4715370	0.86[EUR][1000 genomes]
rs4715371	0.84[EUR][1000 genomes]
rs4715372	0.84[EUR][1000 genomes]
rs4715373	0.84[EUR][1000 genomes]
rs4715374	0.84[EUR][1000 genomes]
rs4715376	0.84[EUR][1000 genomes]
rs4715379	0.92[CEU][hapmap]
rs59610068	0.86[EUR][1000 genomes]
rs60499941	0.86[EUR][1000 genomes]
rs6458872	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6458898	0.92[CEU][hapmap]
rs7758810	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9367502	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9370156	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9370167	0.85[EUR][1000 genomes]
rs9370168	0.85[EUR][1000 genomes]
rs9370171	0.81[EUR][1000 genomes]
rs9382144	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9382156	0.90[EUR][1000 genomes]
rs9382172	0.86[EUR][1000 genomes]
rs9382174	0.84[EUR][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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9382154	GFOD1	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13494200-13496800	Enhancers	Fetal Heart	heart
2	chr6:13494600-13499400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:13495200-13497000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr6:13495200-13497000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:13495400-13496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:13495400-13496800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:13495400-13496800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:13495400-13497600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:13495600-13496800	Enhancers	Left Ventricle	heart
10	chr6:13495600-13496800	Enhancers	Right Ventricle	heart
11	chr6:13495600-13497000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:13495600-13497400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:13495600-13497400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:13495600-13498000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:13495800-13497400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:13496000-13496800	Enhancers	HepG2	liver
17	chr6:13496200-13496800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:13496200-13497400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:13496200-13497400	Enhancers	Adipose Nuclei	Adipose
20	chr6:13496400-13496800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr6:13496400-13497000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:13496400-13497000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr6:13496400-13497000	Enhancers	Right Atrium	heart
24	chr6:13496400-13498000	Enhancers	HUVEC	blood vessel
25	chr6:13496600-13496800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:13496600-13496800	Enhancers	Spleen	Spleen
27	chr6:13496600-13496800	Enhancers	GM12878-XiMat	blood
28	chr6:13496600-13496800	Enhancers	HSMMtube	muscle
29	chr6:13496600-13497000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:13496600-13497000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:13496600-13497000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:13496600-13497000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:13496600-13497000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:13496600-13497000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:13496600-13497200	Enhancers	HSMM	muscle
36	chr6:13496600-13497400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:13496600-13497400	Enhancers	NHEK	skin

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