Variant report

Variant	rs1449269
Chromosome Location	chr15:73194903-73194904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr15:73194578-73195448	HEK293	kidney:	n/a	chr15:73194691-73194699
2	RAD21	chr15:73194791-73195464	IMR90	lung:	n/a	n/a
3	GATA2	chr15:73194313-73195009	SH-SY5Y	brain:	n/a	chr15:73194686-73194694 chr15:73194456-73194466 chr15:73194548-73194558

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73187370..73188878-chr15:73193352..73195591,2	MCF-7	breast:

Variant related genes	Relation type
NPM1P42	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10851861	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072395	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11631402	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11632408	0.94[EUR][1000 genomes]
rs11636130	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11638999	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11852401	1.00[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs11854040	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11857236	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12148518	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12441946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12899945	0.83[ASN][1000 genomes]
rs1449266	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1839270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868473	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2100202	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2100203	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2197893	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2197894	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415209	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2415212	0.87[ASN][1000 genomes]
rs2415213	0.87[ASN][1000 genomes]
rs28505267	0.86[ASN][1000 genomes]
rs28548649	0.90[ASN][1000 genomes]
rs28647497	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28653293	0.89[ASN][1000 genomes]
rs4315307	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4776618	0.94[EUR][1000 genomes]
rs4777566	0.89[EUR][1000 genomes]
rs4777577	0.86[JPT][hapmap]
rs62016086	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71397270	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7171864	0.90[ASN][1000 genomes]
rs8025463	0.90[JPT][hapmap]
rs8025665	0.82[JPT][hapmap]
rs8028981	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8041735	0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3352103	chr15:73191535-73454001	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr15:73193600-73195200	Enhancers	Adipose Nuclei	Adipose
2	chr15:73193600-73195600	Enhancers	Fetal Stomach	stomach
3	chr15:73193800-73196000	Enhancers	Colon Smooth Muscle	Colon
4	chr15:73194000-73195600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:73194000-73195600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr15:73194000-73195600	Enhancers	Lung	lung
7	chr15:73194400-73195000	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr15:73194400-73195000	Flanking Active TSS	Osteobl	bone
9	chr15:73194400-73195400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:73194400-73195400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:73194400-73195400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr15:73194400-73195600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:73194400-73195600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr15:73194400-73195600	Enhancers	Psoas Muscle	Psoas
15	chr15:73194400-73195600	Enhancers	Right Ventricle	heart
16	chr15:73194400-73195600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr15:73194400-73195600	Bivalent Enhancer	NHDF-Ad	bronchial
18	chr15:73194400-73196200	Enhancers	Left Ventricle	heart
19	chr15:73194400-73196200	Enhancers	Right Atrium	heart
20	chr15:73194600-73195000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:73194600-73195000	Enhancers	Fetal Intestine Large	intestine
22	chr15:73194600-73195000	Enhancers	Gastric	stomach
23	chr15:73194600-73195200	Enhancers	Colonic Mucosa	Colon
24	chr15:73194600-73195400	Enhancers	Fetal Lung	lung
25	chr15:73194600-73195400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr15:73194600-73195600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr15:73194600-73195600	Enhancers	Esophagus	oesophagus
28	chr15:73194600-73195600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr15:73194600-73195600	Enhancers	Ovary	ovary
30	chr15:73194600-73195600	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr15:73194600-73195600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr15:73194800-73195000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:73194800-73195000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:73194800-73195000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr15:73194800-73195600	Enhancers	Fetal Muscle Leg	muscle
36	chr15:73194800-73195600	Enhancers	NHLF	lung

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