Variant report

Variant	rs72956771
Chromosome Location	chr3:118997875-118997876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118975620..118977787-chr3:118996347..118998850,2	K562	blood:
2	chr3:118997564..119000425-chr3:119040519..119042890,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16829641	0.82[ASN][1000 genomes]
rs16829666	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56327634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57973376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58789681	0.96[ASN][1000 genomes]
rs59960682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60682494	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs60762206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6438515	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438516	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72956776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960606	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72960608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645237	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289126	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118994800-118998000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:118994800-118998000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:118995800-118998000	Weak transcription	Left Ventricle	heart
4	chr3:118996000-118998000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:118996000-118998000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:118996400-118998000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:118996400-118998000	Weak transcription	Lung	lung
8	chr3:118997000-118999000	Enhancers	Right Atrium	heart
9	chr3:118997400-118999400	Enhancers	HUVEC	blood vessel
10	chr3:118997600-118998000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:118997600-118998000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:118997800-118998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:118997800-118998000	Enhancers	Colon Smooth Muscle	Colon
14	chr3:118997800-118998000	Enhancers	HMEC	breast
15	chr3:118997800-118998200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr3:118997800-118998600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:118997800-118998600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:118997800-118998600	Enhancers	Spleen	Spleen
19	chr3:118997800-118998800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:118997800-118998800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:118997800-118998800	Enhancers	Brain Anterior Caudate	brain
22	chr3:118997800-118999000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:118997800-118999000	Enhancers	Adipose Nuclei	Adipose
24	chr3:118997800-118999000	Enhancers	Brain Angular Gyrus	brain
25	chr3:118997800-118999000	Enhancers	Brain Cingulate Gyrus	brain
26	chr3:118997800-118999000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr3:118997800-118999000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:118997800-118999000	Enhancers	Brain Substantia Nigra	brain
29	chr3:118997800-118999200	Enhancers	Fetal Heart	heart

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