Variant report

Variant	rs61963741
Chromosome Location	chr13:93887047-93887048
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	chr13:93886916..93888621-chr13:108561557..108564159,2	K562	blood:
2	chr13:93886347..93888018-chr13:93890818..93893215,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1008993	0.86[EUR][1000 genomes]
rs1328366	0.81[AMR][1000 genomes]
rs1328370	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17188802	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17267523	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17645969	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17645998	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59772512	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61963718	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61963740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963744	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963746	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61963747	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61963748	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61965664	0.81[AMR][1000 genomes]
rs61965665	0.81[ASN][1000 genomes]
rs72633947	0.80[AMR][1000 genomes];0.92[EUR][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	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93881800-93887400	Weak transcription	NHDF-Ad	bronchial
2	chr13:93883200-93887600	Weak transcription	Fetal Lung	lung
3	chr13:93883200-93888000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:93883200-93888400	Weak transcription	NH-A	brain
5	chr13:93883200-93890000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:93883200-93896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:93883200-93896000	Weak transcription	HSMM	muscle
8	chr13:93883400-93887400	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:93883400-93887800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:93883400-93888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:93883600-93887400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:93884000-93888800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:93884400-93889800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:93885400-93888400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:93885800-93887400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:93885800-93887400	Enhancers	A549	lung
17	chr13:93885800-93888000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:93885800-93888600	Enhancers	Adipose Nuclei	Adipose
19	chr13:93885800-93888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:93886000-93888600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:93886200-93888800	Enhancers	Liver	Liver
22	chr13:93886400-93888200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr13:93886400-93888400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr13:93886400-93888600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:93886400-93888600	Enhancers	Osteobl	bone
26	chr13:93886400-93888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:93886400-93889800	Weak transcription	Fetal Intestine Large	intestine
28	chr13:93886600-93887600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:93886600-93888400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:93886600-93888600	Weak transcription	Fetal Intestine Small	intestine
31	chr13:93886600-93889800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:93886600-93895800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:93886600-93895800	Weak transcription	Fetal Stomach	stomach
34	chr13:93886800-93887600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:93886800-93888400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr13:93886800-93890600	Weak transcription	HepG2	liver
37	chr13:93886800-93895600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:93886800-93895600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr13:93886800-93895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:93887000-93888200	Enhancers	Brain Germinal Matrix	brain

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