Variant report

Variant	rs10514870
Chromosome Location	chr5:58351328-58351329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10066573	0.81[MEX][hapmap]
rs10068543	0.89[CHB][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap]
rs1077183	0.87[MEX][hapmap]
rs12657171	0.86[MEX][hapmap]
rs13183985	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1498603	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17776879	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62356693	1.00[AFR][1000 genomes]
rs6864156	0.89[CHB][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap]
rs6889456	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs71626132	0.90[AMR][1000 genomes]
rs7706419	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7736186	1.00[AFR][1000 genomes]
rs986067	0.89[CHB][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:58336200-58375600	Weak transcription	Left Ventricle	heart
2	chr5:58336600-58351800	Weak transcription	Fetal Intestine Small	intestine
3	chr5:58336600-58358000	Weak transcription	Fetal Intestine Large	intestine
4	chr5:58336600-58358000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:58337400-58359000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:58338800-58351800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:58338800-58359200	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:58338800-58362000	Weak transcription	Gastric	stomach
9	chr5:58339000-58351600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:58339000-58365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:58340600-58359000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:58343600-58356400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:58346000-58359000	Weak transcription	Stomach Mucosa	stomach
14	chr5:58347200-58353000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:58347200-58359200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:58348200-58362000	Weak transcription	Psoas Muscle	Psoas
17	chr5:58348400-58352200	Weak transcription	Right Ventricle	heart
18	chr5:58348400-58354200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:58349600-58360600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:58350000-58351400	Enhancers	Hela-S3	cervix
21	chr5:58350400-58360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:58350600-58360200	Weak transcription	Fetal Stomach	stomach
23	chr5:58351000-58359000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:58351200-58351600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:58351200-58351600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:58351200-58351800	Enhancers	A549	lung

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