Variant report

Variant	rs2030821
Chromosome Location	chr3:133609347-133609348
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133602674..133604300-chr3:133607787..133610295,2	K562	blood:
2	chr3:133608873..133611556-chr3:133612019..133614694,2	K562	blood:
3	chr3:133605740..133607689-chr3:133609098..133611830,3	K562	blood:
4	chr3:133605966..133608367-chr3:133609198..133611399,2	K562	blood:
5	chr3:133524335..133526096-chr3:133607611..133609389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144867	Chromatin interaction
ENSG00000154917	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1106735	0.89[ASN][1000 genomes]
rs1525885	0.83[ASN][1000 genomes]
rs1525887	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525888	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917779	0.89[ASN][1000 genomes]
rs2140920	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140921	0.81[ASN][1000 genomes]
rs2370638	0.81[ASN][1000 genomes]
rs2692679	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692682	0.89[ASN][1000 genomes]
rs2692686	0.81[ASN][1000 genomes]
rs2692687	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692688	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2692689	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692693	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715612	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715616	0.81[ASN][1000 genomes]
rs2715617	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715619	0.89[ASN][1000 genomes]
rs2715620	0.89[ASN][1000 genomes]
rs2715630	0.87[ASN][1000 genomes]
rs57405758	0.89[ASN][1000 genomes]
rs7610245	0.81[ASN][1000 genomes]
rs7641134	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133596400-133613600	Weak transcription	Gastric	stomach
2	chr3:133598800-133610400	Weak transcription	Fetal Brain Male	brain
3	chr3:133599600-133610600	Weak transcription	Pancreas	Pancrea
4	chr3:133601200-133612800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:133601400-133612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:133603200-133610800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:133607000-133610000	Weak transcription	Fetal Brain Female	brain
8	chr3:133607000-133612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:133607200-133609800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:133607200-133609800	Weak transcription	Right Ventricle	heart
11	chr3:133607200-133610200	Weak transcription	Fetal Heart	heart
12	chr3:133607200-133610200	Weak transcription	K562	blood
13	chr3:133607200-133610600	Weak transcription	Left Ventricle	heart
14	chr3:133607200-133610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:133607200-133610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:133607400-133610200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:133607400-133611600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:133607400-133612000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:133607800-133610600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:133607800-133610600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:133608000-133609800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:133608000-133609800	Weak transcription	Brain Angular Gyrus	brain
23	chr3:133608000-133609800	Weak transcription	Spleen	Spleen
24	chr3:133608000-133610800	Weak transcription	Right Atrium	heart
25	chr3:133608000-133611200	Weak transcription	Brain Substantia Nigra	brain
26	chr3:133608000-133611400	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:133608200-133609800	Weak transcription	Brain Anterior Caudate	brain
28	chr3:133608200-133610000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:133608200-133610200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:133608200-133610600	Weak transcription	Brain Germinal Matrix	brain
31	chr3:133608200-133610600	Weak transcription	Brain Inferior Temporal Lobe	brain

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