Variant report

Variant	rs11719033
Chromosome Location	chr3:46529063-46529064
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46528809..46531447-chr3:46546904..46549677,2	K562	blood:
2	chr3:46526738..46529447-chr3:46598574..46601375,2	K562	blood:

Variant related genes	Relation type
ENSG00000268324	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10514713	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11130093	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11130094	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11714743	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12489007	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12489117	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12490169	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12496623	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12496864	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1402151	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037391	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2139634	0.80[EUR][1000 genomes]
rs2280407	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28413725	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3934896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60986461	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6763280	0.80[EUR][1000 genomes]
rs883739	1.00[EUR][1000 genomes];0.99[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	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46511800-46530200	Weak transcription	Right Atrium	heart
2	chr3:46522800-46530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:46522800-46530400	Weak transcription	Gastric	stomach
4	chr3:46523400-46529400	Weak transcription	Brain Substantia Nigra	brain
5	chr3:46524800-46530400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:46525000-46530600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:46525200-46530000	Weak transcription	NH-A	brain
8	chr3:46525800-46530400	Weak transcription	Right Ventricle	heart
9	chr3:46526200-46530200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:46526800-46530400	Weak transcription	Spleen	Spleen
11	chr3:46527000-46530400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:46527200-46530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:46527200-46530200	Weak transcription	Placenta	Placenta
14	chr3:46527200-46530400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:46527200-46530400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:46527400-46530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:46527400-46530400	Weak transcription	Pancreas	Pancrea
18	chr3:46527400-46530400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:46527400-46530400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:46527400-46530400	Weak transcription	Stomach Mucosa	stomach
21	chr3:46527400-46530400	Weak transcription	HSMM	muscle
22	chr3:46527400-46530600	Weak transcription	HSMMtube	muscle
23	chr3:46527600-46530200	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:46527600-46530400	Weak transcription	HepG2	liver
25	chr3:46527800-46530400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:46528400-46530200	Weak transcription	Fetal Intestine Large	intestine

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