Variant report

Variant	rs7714175
Chromosome Location	chr5:128399757-128399758
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	chr5:128393533..128395248-chr5:128398709..128400520,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6891218	0.89[AFR][1000 genomes]
rs7733386	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882840	chr5:128205828-128428962	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv882841	chr5:128301971-128400356	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882845	chr5:128325025-128404226	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1015525	chr5:128335133-128443859	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv882846	chr5:128345803-128428962	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
10	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128398200-128400000	Enhancers	Brain Germinal Matrix	brain
2	chr5:128398800-128399800	Enhancers	Brain Cingulate Gyrus	brain
3	chr5:128398800-128399800	Enhancers	Rectal Smooth Muscle	rectum
4	chr5:128398800-128400000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:128398800-128400000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:128398800-128400000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:128398800-128400000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:128398800-128400000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:128399000-128399800	Enhancers	Brain Anterior Caudate	brain
10	chr5:128399000-128399800	Enhancers	Brain Hippocampus Middle	brain
11	chr5:128399000-128399800	Enhancers	Colon Smooth Muscle	Colon
12	chr5:128399000-128399800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:128399000-128399800	Enhancers	Fetal Brain Male	brain
14	chr5:128399000-128399800	Enhancers	Fetal Muscle Leg	muscle
15	chr5:128399000-128399800	Enhancers	Fetal Stomach	stomach
16	chr5:128399000-128399800	Enhancers	Stomach Smooth Muscle	stomach
17	chr5:128399000-128400000	Enhancers	Brain Substantia Nigra	brain
18	chr5:128399200-128399800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:128399400-128399800	Enhancers	Ovary	ovary
20	chr5:128399400-128399800	Enhancers	Right Ventricle	heart
21	chr5:128399600-128400000	Enhancers	Fetal Heart	heart

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