Variant report

Variant	rs7716373
Chromosome Location	chr5:7860908-7860909
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:7859050..7861346-chr5:7868691..7871781,3	MCF-7	breast:
2	chr5:7856634..7862841-chr5:7863423..7866521,7	MCF-7	breast:
3	chr5:7858641..7861141-chr5:7867787..7870622,3	K562	blood:
4	chr5:7860007..7862983-chr5:7864596..7866833,2	K562	blood:

Variant related genes	Relation type
ENSG00000124279	Chromatin interaction
ENSG00000124275	Chromatin interaction

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

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

rs_ID	r²[population]
rs11949523	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12108985	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13154459	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13181011	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13189728	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13190084	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17184211	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17243407	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17267737	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2128266	0.88[EUR][1000 genomes]
rs34966478	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62342527	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62342530	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9282787	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7851600-7861600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:7851600-7861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:7851600-7865000	Weak transcription	Small Intestine	intestine
4	chr5:7851600-7866400	Weak transcription	Fetal Heart	heart
5	chr5:7851800-7861800	Weak transcription	Brain Substantia Nigra	brain
6	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:7852200-7867600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:7852200-7868400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:7852200-7868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:7852200-7868400	Weak transcription	Gastric	stomach
11	chr5:7852200-7868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:7852400-7861000	Weak transcription	HepG2	liver
13	chr5:7852400-7867800	Weak transcription	Fetal Brain Male	brain
14	chr5:7852800-7862000	Weak transcription	Lung	lung
15	chr5:7852800-7868400	Weak transcription	Pancreas	Pancrea
16	chr5:7853400-7861800	Weak transcription	Ovary	ovary
17	chr5:7853400-7862200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:7854000-7861800	Weak transcription	HUVEC	blood vessel
19	chr5:7854000-7868400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:7856000-7868400	Weak transcription	Stomach Mucosa	stomach
21	chr5:7856600-7867600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:7857000-7861200	Strong transcription	Fetal Stomach	stomach
23	chr5:7857600-7862800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:7857600-7863200	Strong transcription	Brain Hippocampus Middle	brain
25	chr5:7857600-7864200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:7857600-7867800	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:7857800-7862400	Strong transcription	Left Ventricle	heart
28	chr5:7857800-7863000	Strong transcription	Primary B cells from cord blood	blood
29	chr5:7857800-7863000	Strong transcription	Brain Anterior Caudate	brain
30	chr5:7857800-7863000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr5:7857800-7863200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr5:7857800-7863400	Strong transcription	Dnd41	blood
33	chr5:7857800-7863800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr5:7857800-7865800	Strong transcription	Fetal Intestine Large	intestine
35	chr5:7857800-7866000	Strong transcription	Liver	Liver
36	chr5:7857800-7866200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:7857800-7866200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:7857800-7866600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:7858000-7862400	Strong transcription	Fetal Lung	lung
40	chr5:7858000-7864000	Strong transcription	Adipose Nuclei	Adipose
41	chr5:7858000-7865200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:7858000-7866000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:7858000-7866600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:7858000-7867200	Strong transcription	HSMM	muscle
45	chr5:7858000-7867400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:7858200-7863800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr5:7858200-7866600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:7858200-7867600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:7858400-7863000	Strong transcription	Brain Germinal Matrix	brain
50	chr5:7858400-7863200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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