Variant report

Variant	rs72702940
Chromosome Location	chr9:14515878-14515879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14317595..14319386-chr9:14514987..14517848,2	K562	blood:
2	chr9:14514179..14519206-chr9:14523722..14526155,4	K562	blood:
3	chr9:14511731..14517337-chr9:14526461..14532688,9	K562	blood:
4	chr9:14513116..14517337-chr9:14529012..14532245,4	K562	blood:

Variant related genes	Relation type
ENSG00000237137	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11787815	1.00[ASN][1000 genomes]
rs11788056	1.00[ASN][1000 genomes]
rs11790649	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16931893	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237396	1.00[ASN][1000 genomes]
rs57866508	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020007	1.00[ASN][1000 genomes]
rs72700551	1.00[ASN][1000 genomes]
rs72700579	1.00[ASN][1000 genomes]
rs72700586	1.00[ASN][1000 genomes]
rs72702930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702932	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702954	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702957	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702961	1.00[ASN][1000 genomes]
rs72702962	1.00[ASN][1000 genomes]
rs963338	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979897	1.00[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	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	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14514600-14516000	Weak transcription	Fetal Brain Male	brain
2	chr9:14515000-14517800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:14515000-14518000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:14515200-14516200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:14515200-14517200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:14515200-14517600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:14515200-14517800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr9:14515200-14518000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:14515200-14518400	Enhancers	Fetal Muscle Leg	muscle
10	chr9:14515400-14516000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:14515400-14516000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:14515400-14516200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:14515400-14516400	Flanking Active TSS	K562	blood
14	chr9:14515400-14516600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:14515400-14517800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr9:14515400-14519000	Enhancers	Brain Germinal Matrix	brain
17	chr9:14515600-14516000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr9:14515600-14516000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr9:14515600-14516000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr9:14515600-14516000	Flanking Active TSS	HSMM	muscle
21	chr9:14515600-14516200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:14515600-14516200	Enhancers	Fetal Muscle Trunk	muscle
23	chr9:14515600-14517600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:14515600-14517800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:14515800-14516000	Enhancers	NH-A	brain
26	chr9:14515800-14516200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:14515800-14516200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
28	chr9:14515800-14516200	Enhancers	Brain Hippocampus Middle	brain
29	chr9:14515800-14516200	Enhancers	Esophagus	oesophagus
30	chr9:14515800-14516200	Enhancers	Fetal Stomach	stomach
31	chr9:14515800-14516200	Enhancers	Psoas Muscle	Psoas
32	chr9:14515800-14516200	Active TSS	HSMMtube	muscle
33	chr9:14515800-14516800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:14515800-14517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:14515800-14517800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:14515800-14518000	Enhancers	Fetal Brain Female	brain

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