Variant report

Variant	rs73466835
Chromosome Location	chr13:40121175-40121176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11618841	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11619569	0.99[ASN][1000 genomes]
rs11619916	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12428145	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475177	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060207	1.00[ASN][1000 genomes]
rs2324334	1.00[ASN][1000 genomes]
rs2324338	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2324341	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3108	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56066871	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563724	0.99[ASN][1000 genomes]
rs6563725	0.99[ASN][1000 genomes]
rs7324765	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7987701	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7992600	0.99[ASN][1000 genomes]
rs7998105	0.92[ASN][1000 genomes]
rs7998772	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000770	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594342	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9603561	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603563	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9603565	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs967401	0.82[EUR][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	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	esv2421708	chr13:40118603-40125453	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
4	nsv517093	chr13:40119410-40123073	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
5	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40106800-40124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
4	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:40112000-40122400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:40113800-40128600	Weak transcription	Ovary	ovary
8	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:40114200-40125200	Weak transcription	HSMM	muscle
10	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:40115600-40133600	Weak transcription	Osteobl	bone
13	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
14	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
15	chr13:40117600-40126400	Weak transcription	Right Ventricle	heart
16	chr13:40117800-40128600	Weak transcription	Right Atrium	heart
17	chr13:40117800-40131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:40118000-40122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:40118200-40122600	Weak transcription	NHEK	skin
20	chr13:40118800-40126400	Weak transcription	Brain Substantia Nigra	brain
21	chr13:40119800-40130200	Weak transcription	Fetal Heart	heart
22	chr13:40120000-40122600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:40120000-40125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:40120000-40131600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:40120400-40121600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr13:40120600-40121200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:40120600-40121200	Enhancers	Left Ventricle	heart
28	chr13:40120600-40121600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:40120600-40122600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:40120800-40121200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr13:40120800-40121400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr13:40120800-40121600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr13:40120800-40121600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr13:40121000-40121800	Enhancers	H1 Cell Line	embryonic stem cell

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