Variant report

Variant	rs9997712
Chromosome Location	chr4:7399693-7399694
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10000132	0.94[EUR][1000 genomes]
rs10000236	0.94[EUR][1000 genomes]
rs10005361	0.94[EUR][1000 genomes]
rs10005455	0.94[EUR][1000 genomes]
rs12500834	0.93[EUR][1000 genomes]
rs12501740	0.93[EUR][1000 genomes]
rs12512241	0.93[EUR][1000 genomes]
rs13103153	0.93[EUR][1000 genomes]
rs13125483	0.93[EUR][1000 genomes]
rs13132744	0.91[EUR][1000 genomes]
rs13146595	0.90[EUR][1000 genomes]
rs34849258	0.90[EUR][1000 genomes]
rs9995355	0.92[EUR][1000 genomes]
rs9997426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997796	0.94[EUR][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	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003679	chr4:7319111-7449262	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7389800-7399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:7391800-7402000	Enhancers	Brain Germinal Matrix	brain
3	chr4:7393600-7400800	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr4:7394400-7400000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7396800-7401400	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:7397400-7400800	Enhancers	HSMMtube	muscle
7	chr4:7397400-7401200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:7397400-7401800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:7397600-7401600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:7398000-7400400	Enhancers	NH-A	brain
11	chr4:7398200-7400800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:7398400-7401200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:7398600-7400000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7398600-7400000	Enhancers	Fetal Intestine Small	intestine
15	chr4:7398600-7400800	Bivalent Enhancer	Fetal Lung	lung
16	chr4:7398800-7399800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:7398800-7400200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:7398800-7400800	Enhancers	Colon Smooth Muscle	Colon
19	chr4:7398800-7401400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr4:7399000-7399800	Enhancers	Esophagus	oesophagus
21	chr4:7399000-7399800	Bivalent Enhancer	Fetal Stomach	stomach
22	chr4:7399000-7400200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:7399000-7401200	Enhancers	Fetal Brain Male	brain
24	chr4:7399000-7401400	Enhancers	Brain Angular Gyrus	brain
25	chr4:7399200-7399800	Enhancers	Rectal Smooth Muscle	rectum
26	chr4:7399200-7400000	Flanking Active TSS	HSMM	muscle
27	chr4:7399400-7399800	Enhancers	Lung	lung
28	chr4:7399400-7400000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:7399400-7400000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr4:7399400-7400000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr4:7399400-7400200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:7399400-7400200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr4:7399400-7400400	Enhancers	Fetal Heart	heart
34	chr4:7399400-7401200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:7399400-7401200	Enhancers	Brain Substantia Nigra	brain
36	chr4:7399400-7401400	Enhancers	Brain Anterior Caudate	brain
37	chr4:7399400-7401400	Enhancers	Brain Hippocampus Middle	brain
38	chr4:7399400-7401600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:7399600-7399800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
40	chr4:7399600-7399800	Flanking Active TSS	NHEK	skin
41	chr4:7399600-7400000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:7399600-7400000	Enhancers	Left Ventricle	heart
43	chr4:7399600-7400000	Enhancers	Right Ventricle	heart
44	chr4:7399600-7400000	Enhancers	HMEC	breast
45	chr4:7399600-7400200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:7399600-7400200	Enhancers	Pancreas	Pancrea
47	chr4:7399600-7401800	Enhancers	Fetal Brain Female	brain

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