Variant report

Variant	rs73140284
Chromosome Location	chr5:93977388-93977389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:93973156..93974840-chr5:93976350..93977887,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1549180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17327757	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328137	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328296	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328400	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328434	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328525	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328588	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17328637	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17387486	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029910	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173020	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56730205	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56813337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57412880	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58306231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58408645	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59077119	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60307858	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61141017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61427096	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898151	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132656	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132666	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132677	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132681	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132682	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132683	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132688	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132692	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132693	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73132701	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134674	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134681	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134683	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134687	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134693	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73134696	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73140270	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73140285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73144155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73144175	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144193	0.90[EUR][1000 genomes]
rs73145094	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150143	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73150166	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv882386	chr5:93973177-94008969	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93955000-93995400	Weak transcription	Gastric	stomach
2	chr5:93955600-93990800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:93955800-93995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:93955800-94027600	Weak transcription	NH-A	brain
5	chr5:93956200-93993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:93957800-93982400	Weak transcription	Psoas Muscle	Psoas
7	chr5:93963800-93995800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:93964600-93995200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:93965800-93988400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:93966600-93980000	Weak transcription	Left Ventricle	heart
11	chr5:93966600-93990800	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:93967200-93979600	Weak transcription	Brain Anterior Caudate	brain
13	chr5:93967400-93991400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:93967600-93979800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:93967600-93988200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:93967800-93978200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:93967800-93991000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:93968000-93990200	Weak transcription	Fetal Kidney	kidney
19	chr5:93968000-93995200	Weak transcription	HSMM	muscle
20	chr5:93969200-93978200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:93969400-94008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:93969600-93977400	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr5:93971400-93995400	Weak transcription	Spleen	Spleen
24	chr5:93972000-93977800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:93972000-93978000	ZNF genes & repeats	A549	lung
26	chr5:93972600-93978000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:93973200-93988400	Weak transcription	Fetal Brain Male	brain
28	chr5:93973400-93989800	Weak transcription	Brain Angular Gyrus	brain
29	chr5:93973800-93995200	Weak transcription	Lung	lung
30	chr5:93973800-94004200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:93974200-93995400	Weak transcription	Ovary	ovary
32	chr5:93974400-93995200	Weak transcription	Thymus	Thymus
33	chr5:93974600-93978200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr5:93974600-93993400	Strong transcription	Hela-S3	cervix
35	chr5:93975200-93988400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:93975400-93981600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:93975600-93979200	Strong transcription	Fetal Thymus	thymus
38	chr5:93975600-93979800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:93975600-93988400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:93975600-93990600	Weak transcription	Fetal Heart	heart
41	chr5:93975600-93990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:93975600-93995200	Weak transcription	Esophagus	oesophagus
43	chr5:93975600-93995200	Weak transcription	Fetal Stomach	stomach
44	chr5:93975600-94012000	Weak transcription	Aorta	Aorta
45	chr5:93975800-93977400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:93975800-93977400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:93975800-93979800	Weak transcription	Adipose Nuclei	Adipose
48	chr5:93975800-93987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:93975800-93988400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:93975800-93989600	Weak transcription	Rectal Mucosa Donor 31	rectum

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