Variant report

Variant	rs73630125
Chromosome Location	chr13:93888572-93888573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93874469..93877049-chr13:93887079..93889596,2	K562	blood:
2	chr13:93888191..93889771-chr13:93891363..93893761,2	K562	blood:
3	chr13:93886916..93888621-chr13:108561557..108564159,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57108159	1.00[AMR][1000 genomes]
rs73540335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73635728	1.00[AMR][1000 genomes]
rs73635734	1.00[AMR][1000 genomes]
rs9584097	1.00[AMR][1000 genomes]
rs9589693	1.00[AMR][1000 genomes]
rs9589694	1.00[AMR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93883200-93890000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:93883200-93896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:93883200-93896000	Weak transcription	HSMM	muscle
4	chr13:93883400-93888800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:93884000-93888800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:93884400-93889800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:93885800-93888600	Enhancers	Adipose Nuclei	Adipose
8	chr13:93885800-93888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:93886000-93888600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:93886200-93888800	Enhancers	Liver	Liver
11	chr13:93886400-93888600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:93886400-93888600	Enhancers	Osteobl	bone
13	chr13:93886400-93888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:93886400-93889800	Weak transcription	Fetal Intestine Large	intestine
15	chr13:93886600-93888600	Weak transcription	Fetal Intestine Small	intestine
16	chr13:93886600-93889800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:93886600-93895800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:93886600-93895800	Weak transcription	Fetal Stomach	stomach
19	chr13:93886800-93890600	Weak transcription	HepG2	liver
20	chr13:93886800-93895600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:93886800-93895600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:93886800-93895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:93887400-93888600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:93887400-93888800	Enhancers	Colon Smooth Muscle	Colon
25	chr13:93887400-93890000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:93888000-93888600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:93888200-93889600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr13:93888400-93895600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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