Variant report

Variant	rs7444307
Chromosome Location	chr5:124392917-124392918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124385684..124387313-chr5:124391971..124393955,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10040754	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11241784	0.88[ASN][1000 genomes]
rs11955202	0.96[ASN][1000 genomes]
rs13188506	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28649435	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4075487	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4293913	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4451044	0.84[ASN][1000 genomes]
rs4510579	0.84[ASN][1000 genomes]
rs4555796	0.86[ASW][hapmap];0.92[CEU][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836144	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55888913	0.88[ASN][1000 genomes]
rs55919034	0.84[ASN][1000 genomes]
rs58908150	0.86[ASN][1000 genomes]
rs59612060	0.94[ASN][1000 genomes]
rs62372843	0.90[ASN][1000 genomes]
rs6595573	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6866873	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6872841	0.83[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs72787446	0.88[ASN][1000 genomes]
rs7446011	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7700716	0.90[ASN][1000 genomes]
rs7711673	0.90[ASN][1000 genomes]
rs9686683	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv4984	chr5:124377028-124401500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7444307	ZNF608	cis	lymphoblastoid	seeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124382800-124394200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:124382800-124394200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:124388400-124396400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:124388400-124396400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:124388600-124395000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:124389600-124396200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:124390600-124396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:124390800-124395400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:124391000-124393200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:124391200-124396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:124391600-124396000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:124391600-124396200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:124391600-124398000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:124391800-124393000	Enhancers	Dnd41	blood
15	chr5:124391800-124396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:124392000-124395800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:124392200-124393400	Enhancers	Fetal Stomach	stomach
18	chr5:124392200-124394000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:124392200-124394200	Enhancers	Brain Hippocampus Middle	brain
20	chr5:124392200-124394600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:124392200-124395600	Enhancers	HMEC	breast
22	chr5:124392200-124395600	Enhancers	Osteobl	bone
23	chr5:124392200-124396000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:124392200-124396400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:124392400-124393000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:124392400-124393000	Enhancers	Esophagus	oesophagus
27	chr5:124392400-124393000	Enhancers	Left Ventricle	heart
28	chr5:124392400-124393200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:124392400-124393200	Enhancers	Fetal Thymus	thymus
30	chr5:124392400-124394000	Enhancers	Fetal Lung	lung
31	chr5:124392400-124394400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:124392400-124394600	Enhancers	Brain Substantia Nigra	brain
33	chr5:124392400-124395000	Enhancers	Fetal Brain Female	brain
34	chr5:124392400-124395200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:124392400-124395200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:124392400-124395400	Enhancers	Brain Germinal Matrix	brain
37	chr5:124392400-124395600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:124392400-124395600	Enhancers	Fetal Kidney	kidney
39	chr5:124392400-124396000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:124392600-124393000	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr5:124392600-124393000	Enhancers	Right Atrium	heart
42	chr5:124392600-124393800	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:124392600-124394200	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:124392600-124394400	Enhancers	Fetal Brain Male	brain
45	chr5:124392600-124394800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:124392600-124395600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:124392800-124393000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:124392800-124393000	Enhancers	NHEK	skin
49	chr5:124392800-124393200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:124392800-124393800	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links