Variant report

Variant	rs4943674
Chromosome Location	chr13:40128795-40128796
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	chr13:40126439..40128826-chr13:40132731..40135327,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1022808	0.94[EUR][1000 genomes]
rs1160321	0.95[AMR][1000 genomes]
rs17236046	0.81[AMR][1000 genomes]
rs1885758	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1885760	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1885762	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2324333	0.94[ASN][1000 genomes]
rs2324335	0.97[ASN][1000 genomes]
rs2324347	0.91[AMR][1000 genomes]
rs2875329	0.84[EUR][1000 genomes]
rs3858867	0.88[AMR][1000 genomes]
rs4304917	0.94[ASN][1000 genomes]
rs4325425	0.85[EUR][1000 genomes]
rs4456374	0.91[AMR][1000 genomes]
rs4471557	0.94[ASN][1000 genomes]
rs4520717	0.86[EUR][1000 genomes]
rs4559795	0.94[ASN][1000 genomes]
rs4941933	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4941935	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61956469	0.95[AMR][1000 genomes]
rs6563720	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6563721	0.84[EUR][1000 genomes]
rs6563726	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563727	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6563728	0.88[AMR][1000 genomes]
rs7324883	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7331023	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7333587	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7335390	0.94[ASN][1000 genomes]
rs7338428	0.93[AMR][1000 genomes]
rs7981205	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7985507	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7986918	0.94[ASN][1000 genomes]
rs7988729	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8000471	0.94[ASN][1000 genomes]
rs912050	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs927515	0.86[AMR][1000 genomes]
rs9285135	0.84[EUR][1000 genomes]
rs9285136	0.84[EUR][1000 genomes]
rs9315698	0.84[EUR][1000 genomes]
rs9315704	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9315705	0.82[AMR][1000 genomes]
rs9548796	0.93[EUR][1000 genomes]
rs9548807	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9566448	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9566457	0.83[AMR][1000 genomes]
rs9576865	0.86[EUR][1000 genomes]
rs978135	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv523936	chr13:40119410-40128845	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	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	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
3	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:40115600-40133600	Weak transcription	Osteobl	bone
7	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
8	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
9	chr13:40117800-40131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:40119800-40130200	Weak transcription	Fetal Heart	heart
11	chr13:40120000-40131600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:40121400-40136200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:40123000-40131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:40125000-40131600	Weak transcription	Fetal Lung	lung
15	chr13:40125400-40133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:40125600-40131400	Weak transcription	HSMM	muscle
17	chr13:40125600-40133000	Weak transcription	Lung	lung
18	chr13:40125800-40130000	Weak transcription	Adipose Nuclei	Adipose
19	chr13:40126000-40128800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:40126400-40128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:40126400-40137200	Weak transcription	NHLF	lung
22	chr13:40126600-40130200	Weak transcription	Right Ventricle	heart
23	chr13:40126800-40130600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:40127000-40128800	Weak transcription	Brain Substantia Nigra	brain
25	chr13:40127000-40131200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:40127000-40133400	Weak transcription	Brain Angular Gyrus	brain
27	chr13:40127000-40136200	Weak transcription	NHDF-Ad	bronchial
28	chr13:40127200-40129000	Enhancers	Left Ventricle	heart
29	chr13:40128400-40128800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:40128600-40128800	Enhancers	Colon Smooth Muscle	Colon
31	chr13:40128600-40129000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:40128600-40129000	Enhancers	Right Atrium	heart
33	chr13:40128600-40129200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:40128600-40129200	Enhancers	HMEC	breast
35	chr13:40128600-40129600	Enhancers	Ovary	ovary

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