Variant report

Variant	rs72613836
Chromosome Location	chr2:30912423-30912424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30901810..30903699-chr2:30911244..30913878,2	MCF-7	breast:
2	chr2:30911934..30915196-chr2:30916414..30919357,3	K562	blood:
3	chr2:30907810..30910033-chr2:30912407..30915390,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17010034	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60218907	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60432407	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61473948	0.90[ASN][1000 genomes]
rs62142173	0.80[ASN][1000 genomes]
rs66649138	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67680703	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67748367	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68014179	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68064015	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72613837	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72613838	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72613839	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72613843	0.84[EUR][1000 genomes]
rs72865470	0.92[EUR][1000 genomes];0.88[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3449150	chr2:30912297-30912770	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30902600-30915600	Weak transcription	NHDF-Ad	bronchial
3	chr2:30908200-30915600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:30908600-30913400	Enhancers	Left Ventricle	heart
5	chr2:30910600-30918200	Enhancers	Right Ventricle	heart
6	chr2:30911200-30912600	Enhancers	Fetal Brain Female	brain
7	chr2:30911200-30912600	Enhancers	Fetal Lung	lung
8	chr2:30911200-30912800	Enhancers	Brain Germinal Matrix	brain
9	chr2:30911200-30913400	Enhancers	HSMMtube	muscle
10	chr2:30911600-30913400	Enhancers	Colon Smooth Muscle	Colon
11	chr2:30911600-30913400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr2:30911600-30913400	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:30911600-30913400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:30911800-30912600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:30911800-30912600	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:30911800-30912800	Enhancers	Fetal Kidney	kidney
17	chr2:30911800-30912800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr2:30911800-30913000	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr2:30911800-30913400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:30911800-30913400	Enhancers	Lung	lung
21	chr2:30911800-30913400	Enhancers	Psoas Muscle	Psoas
22	chr2:30911800-30913400	Enhancers	Right Atrium	heart
23	chr2:30911800-30913600	Enhancers	Ovary	ovary
24	chr2:30911800-30913800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:30911800-30914600	Enhancers	Aorta	Aorta
26	chr2:30912000-30912800	Enhancers	Spleen	Spleen
27	chr2:30912000-30913200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr2:30912000-30913400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:30912000-30914000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:30912200-30913400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:30912200-30913400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:30912400-30912600	Enhancers	Primary B cells from cord blood	blood
33	chr2:30912400-30912600	Flanking Active TSS	Fetal Heart	heart
34	chr2:30912400-30912800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:30912400-30913000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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