Variant report

Variant	rs73199746
Chromosome Location	chr13:52323602-52323603
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52309697..52311273-chr13:52321777..52323610,2	K562	blood:
2	chr13:52318115..52320342-chr13:52321989..52324210,2	MCF-7	breast:
3	chr13:52026691..52028423-chr13:52321935..52324580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1060562	1.00[ASN][1000 genomes]
rs12146894	1.00[ASN][1000 genomes]
rs12427748	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1475195	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17075907	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17532412	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17532524	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17532936	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17597215	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17597531	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1885854	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2296028	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296029	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2897944	0.99[ASN][1000 genomes]
rs3908968	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41292776	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4555048	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs483879	1.00[AFR][1000 genomes]
rs488261	1.00[AFR][1000 genomes]
rs60757273	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73199734	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526783	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526786	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526788	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9526793	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526794	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535714	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535715	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535717	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9535722	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9535734	0.92[ASN][1000 genomes]
rs9535735	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535737	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535738	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535739	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535741	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535743	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535744	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535745	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535746	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535747	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535748	0.99[ASN][1000 genomes]
rs9535749	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535750	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535751	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535752	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535753	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535755	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535756	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52305000-52338200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:52306200-52339000	Weak transcription	Fetal Kidney	kidney
3	chr13:52308200-52342800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:52308400-52326800	Weak transcription	Hela-S3	cervix
5	chr13:52314200-52326600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr13:52315200-52327000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:52315600-52328600	Weak transcription	Brain Germinal Matrix	brain
8	chr13:52315600-52332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:52316200-52332200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr13:52316400-52329400	Weak transcription	Brain Anterior Caudate	brain
11	chr13:52318400-52334200	Weak transcription	Fetal Brain Male	brain
12	chr13:52319200-52326200	Weak transcription	Brain Angular Gyrus	brain
13	chr13:52320400-52324600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:52320600-52324800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:52321000-52329600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:52321800-52323800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:52321800-52323800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:52322000-52334400	Weak transcription	Colonic Mucosa	Colon
19	chr13:52322400-52329600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:52322600-52324800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:52322600-52324800	Weak transcription	Brain Hippocampus Middle	brain
22	chr13:52322600-52324800	Weak transcription	Left Ventricle	heart
23	chr13:52322600-52325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:52322600-52325200	Weak transcription	Esophagus	oesophagus
25	chr13:52322600-52325400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:52322600-52325400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr13:52322600-52325400	Weak transcription	Lung	lung
28	chr13:52322600-52325400	Weak transcription	Pancreas	Pancrea
29	chr13:52322600-52325400	Weak transcription	Thymus	Thymus
30	chr13:52322600-52326200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:52322600-52326400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:52322600-52326400	Weak transcription	Aorta	Aorta
33	chr13:52322600-52326400	Weak transcription	Gastric	stomach
34	chr13:52322600-52326600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr13:52322600-52326600	Weak transcription	Fetal Brain Female	brain
36	chr13:52322600-52326600	Weak transcription	Fetal Lung	lung
37	chr13:52322600-52327200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr13:52322600-52327200	Weak transcription	Spleen	Spleen
39	chr13:52322600-52329000	Weak transcription	Fetal Stomach	stomach
40	chr13:52322600-52329400	Weak transcription	Fetal Intestine Large	intestine
41	chr13:52322600-52330000	Weak transcription	Ovary	ovary
42	chr13:52322600-52330400	Weak transcription	Right Ventricle	heart
43	chr13:52322600-52332400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:52322600-52334400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr13:52322600-52337000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:52322600-52338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr13:52322600-52338200	Weak transcription	Stomach Mucosa	stomach
48	chr13:52322600-52342200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:52322600-52342200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr13:52322800-52324800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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