Variant report

Variant	rs55990853
Chromosome Location	chr14:35846620-35846621
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	chr14:35845552..35847361-chr14:35872348..35873980,2	K562	blood:

Variant related genes	Relation type
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12433012	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17514338	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2057335	0.81[AFR][1000 genomes]
rs35706554	0.94[ASN][1000 genomes]
rs56173145	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61251127	0.83[ASN][1000 genomes]
rs7148066	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155561	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155714	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156541	0.94[ASN][1000 genomes]
rs8005252	0.94[ASN][1000 genomes]
rs8019505	0.83[ASN][1000 genomes]
rs8020830	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9743508	0.83[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	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:35838800-35847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:35841600-35853000	Weak transcription	Right Atrium	heart
5	chr14:35843200-35850000	Enhancers	Hela-S3	cervix
6	chr14:35843600-35852400	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:35844000-35847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:35844000-35847600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:35844000-35848800	Weak transcription	Fetal Intestine Large	intestine
10	chr14:35844000-35849400	Weak transcription	Fetal Intestine Small	intestine
11	chr14:35844000-35850200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:35844000-35852800	Weak transcription	HUVEC	blood vessel
13	chr14:35844200-35847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:35844200-35847800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:35844200-35847800	Weak transcription	Osteobl	bone
16	chr14:35844200-35849800	Weak transcription	Adipose Nuclei	Adipose
17	chr14:35845200-35847200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:35845400-35847600	Weak transcription	NHDF-Ad	bronchial
19	chr14:35845400-35848200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:35845400-35852400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:35846000-35853000	Weak transcription	Lung	lung
22	chr14:35846200-35846800	Bivalent Enhancer	HepG2	liver
23	chr14:35846200-35853000	Weak transcription	K562	blood
24	chr14:35846400-35847200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:35846400-35847800	Weak transcription	A549	lung
26	chr14:35846600-35846800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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