Variant report

Variant	rs7727993
Chromosome Location	chr5:7859729-7859730
allele	G/T
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	chr5:7849544..7853202-chr5:7856682..7860407,3	K562	blood:
3	chr5:7856634..7862841-chr5:7863423..7866521,7	MCF-7	breast:
4	chr5:7858641..7861141-chr5:7867787..7870622,3	K562	blood:

Variant related genes	Relation type
ENSG00000124275	Chromatin interaction
ENSG00000124279	Chromatin interaction
ENSG00000215217	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11738284	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11739527	1.00[AFR][1000 genomes]
rs11749024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34172797	1.00[AFR][1000 genomes]
rs35890938	1.00[AFR][1000 genomes]
rs41283147	1.00[AFR][1000 genomes]
rs52827085	1.00[AFR][1000 genomes]
rs6859960	1.00[AFR][1000 genomes]
rs6864295	1.00[AFR][1000 genomes]
rs6868871	1.00[AFR][1000 genomes]
rs6874544	1.00[AFR][1000 genomes]
rs6875417	1.00[AFR][1000 genomes]
rs6875449	1.00[AFR][1000 genomes]
rs6876840	1.00[AFR][1000 genomes]
rs6879300	1.00[AFR][1000 genomes]
rs7722483	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7725672	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9282788	1.00[AFR][1000 genomes]
rs9282790	1.00[AFR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7851400-7860000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:7851600-7859800	Weak transcription	Psoas Muscle	Psoas
3	chr5:7851600-7859800	Weak transcription	Right Ventricle	heart
4	chr5:7851600-7860000	Weak transcription	Aorta	Aorta
5	chr5:7851600-7861600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:7851600-7861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:7851600-7865000	Weak transcription	Small Intestine	intestine
8	chr5:7851600-7866400	Weak transcription	Fetal Heart	heart
9	chr5:7851800-7861800	Weak transcription	Brain Substantia Nigra	brain
10	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:7852200-7867600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:7852200-7868400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:7852200-7868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:7852200-7868400	Weak transcription	Gastric	stomach
15	chr5:7852200-7868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:7852400-7859800	Weak transcription	Spleen	Spleen
17	chr5:7852400-7861000	Weak transcription	HepG2	liver
18	chr5:7852400-7867800	Weak transcription	Fetal Brain Male	brain
19	chr5:7852800-7862000	Weak transcription	Lung	lung
20	chr5:7852800-7868400	Weak transcription	Pancreas	Pancrea
21	chr5:7853400-7860000	Weak transcription	Fetal Intestine Small	intestine
22	chr5:7853400-7861800	Weak transcription	Ovary	ovary
23	chr5:7853400-7862200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:7854000-7861800	Weak transcription	HUVEC	blood vessel
25	chr5:7854000-7868400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:7855600-7860800	Weak transcription	Colonic Mucosa	Colon
27	chr5:7856000-7860800	Weak transcription	NHEK	skin
28	chr5:7856000-7868400	Weak transcription	Stomach Mucosa	stomach
29	chr5:7856400-7859800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:7856600-7867600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:7856800-7860200	Weak transcription	NHLF	lung
32	chr5:7857000-7861200	Strong transcription	Fetal Stomach	stomach
33	chr5:7857600-7860400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:7857600-7860600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr5:7857600-7860600	Strong transcription	Fetal Kidney	kidney
36	chr5:7857600-7862800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:7857600-7863200	Strong transcription	Brain Hippocampus Middle	brain
38	chr5:7857600-7864200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:7857600-7867800	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:7857800-7862400	Strong transcription	Left Ventricle	heart
41	chr5:7857800-7863000	Strong transcription	Primary B cells from cord blood	blood
42	chr5:7857800-7863000	Strong transcription	Brain Anterior Caudate	brain
43	chr5:7857800-7863000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr5:7857800-7863200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:7857800-7863400	Strong transcription	Dnd41	blood
46	chr5:7857800-7863800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:7857800-7865800	Strong transcription	Fetal Intestine Large	intestine
48	chr5:7857800-7866000	Strong transcription	Liver	Liver
49	chr5:7857800-7866200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:7857800-7866200	Strong transcription	Rectal Mucosa Donor 31	rectum

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