Variant report

Variant	rs71409558
Chromosome Location	chr14:35851138-35851139
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	chr14:35834445..35839728-chr14:35850287..35856081,6	K562	blood:
2	chr14:35850100..35852410-chr14:35853864..35856080,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12588409	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12590994	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2415289	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34567258	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34999061	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35969047	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4304944	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4611365	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55861660	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55917018	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs71409559	0.81[EUR][1000 genomes]
rs8007737	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8020658	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs973652	0.82[AMR][1000 genomes];0.85[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	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
4	esv3327974	chr14:35850251-35852249	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3373811	chr14:35850651-35851849	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35837400-35852400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:35839600-35852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:35841600-35853000	Weak transcription	Right Atrium	heart
4	chr14:35843600-35852400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:35844000-35852800	Weak transcription	HUVEC	blood vessel
6	chr14:35845400-35852400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:35846000-35853000	Weak transcription	Lung	lung
8	chr14:35846200-35853000	Weak transcription	K562	blood
9	chr14:35846800-35852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:35847200-35853000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:35848400-35853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:35848600-35852600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:35848600-35852800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:35848600-35853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:35848800-35852800	Weak transcription	NHDF-Ad	bronchial
16	chr14:35848800-35853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:35849000-35852800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:35850400-35852800	Weak transcription	Osteobl	bone
19	chr14:35850600-35852200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:35850600-35852400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr14:35850600-35852600	Weak transcription	Fetal Intestine Small	intestine
22	chr14:35850600-35852800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:35850600-35852800	Weak transcription	Adipose Nuclei	Adipose
24	chr14:35850600-35852800	Weak transcription	Colonic Mucosa	Colon
25	chr14:35850600-35852800	Weak transcription	Fetal Intestine Large	intestine
26	chr14:35850600-35853000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:35850800-35851200	Weak transcription	Placenta	Placenta
28	chr14:35850800-35852600	Weak transcription	A549	lung
29	chr14:35850800-35852600	Weak transcription	Hela-S3	cervix

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