Variant report

Variant	rs72700551
Chromosome Location	chr9:14401871-14401872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14399946..14402749-chr9:14405423..14407505,3	K562	blood:
2	chr9:14399946..14402059-chr9:14405423..14407406,2	K562	blood:
3	chr9:14401730..14403853-chr9:14406979..14409874,2	MCF-7	breast:
4	chr9:14314559..14316138-chr9:14400048..14402304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1010335	0.84[EUR][1000 genomes]
rs11787815	1.00[ASN][1000 genomes]
rs11788056	1.00[ASN][1000 genomes]
rs11790649	1.00[ASN][1000 genomes]
rs16931893	1.00[ASN][1000 genomes]
rs17759357	1.00[AFR][1000 genomes]
rs56237396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57866508	1.00[ASN][1000 genomes]
rs7020007	1.00[ASN][1000 genomes]
rs7029591	0.82[EUR][1000 genomes]
rs72700545	0.84[EUR][1000 genomes]
rs72700550	0.84[EUR][1000 genomes]
rs72700555	0.82[EUR][1000 genomes]
rs72700579	1.00[ASN][1000 genomes]
rs72700586	1.00[ASN][1000 genomes]
rs72702930	1.00[ASN][1000 genomes]
rs72702932	1.00[ASN][1000 genomes]
rs72702938	1.00[ASN][1000 genomes]
rs72702939	1.00[ASN][1000 genomes]
rs72702940	1.00[ASN][1000 genomes]
rs72702941	1.00[ASN][1000 genomes]
rs72702954	1.00[ASN][1000 genomes]
rs72702957	1.00[ASN][1000 genomes]
rs72702961	1.00[ASN][1000 genomes]
rs72702962	1.00[ASN][1000 genomes]
rs963338	1.00[ASN][1000 genomes]
rs979897	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	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892600	chr9:14370172-14469146	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv892601	chr9:14380528-14405555	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14386400-14418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:14397400-14402600	Weak transcription	Brain Germinal Matrix	brain
3	chr9:14397600-14404200	Weak transcription	Pancreas	Pancrea
4	chr9:14400000-14403400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:14400200-14403800	Enhancers	Fetal Brain Male	brain
6	chr9:14400600-14402200	Enhancers	Fetal Muscle Leg	muscle
7	chr9:14400600-14402800	Weak transcription	Fetal Brain Female	brain
8	chr9:14400800-14403200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:14400800-14404800	Weak transcription	Aorta	Aorta
10	chr9:14401000-14402000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:14401000-14402400	Enhancers	Fetal Lung	lung
12	chr9:14401000-14403000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:14401000-14403200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:14401000-14403200	Weak transcription	Fetal Stomach	stomach
15	chr9:14401000-14403200	Weak transcription	Psoas Muscle	Psoas
16	chr9:14401200-14402800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:14401400-14403000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:14401600-14402800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:14401600-14403000	Weak transcription	Brain Anterior Caudate	brain
20	chr9:14401600-14403000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:14401800-14402000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:14401800-14402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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