Variant report

Variant	rs57713691
Chromosome Location	chr5:179269986-179269987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179269734-179271604	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179246564..179250154-chr5:179266751..179272341,6	MCF-7	breast:

Variant related genes	Relation type
C5orf45	TF binding region
RN7SKP150	TF binding region
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55782074	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55986721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56225166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58652165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58713160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60403632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60462250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61613267	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61748794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334031	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351618	1.00[AMR][1000 genomes]
rs73810204	1.00[AMR][1000 genomes]
rs73810488	1.00[AMR][1000 genomes]

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	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
7	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
9	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
10	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179250200-179272000	Strong transcription	Fetal Muscle Leg	muscle
2	chr5:179250200-179272800	Weak transcription	Fetal Brain Male	brain
3	chr5:179258200-179274800	Weak transcription	Fetal Heart	heart
4	chr5:179262400-179271000	Strong transcription	Fetal Stomach	stomach
5	chr5:179262400-179271400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:179262400-179271600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:179262400-179272000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:179262600-179279400	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr5:179263000-179271000	Strong transcription	Brain Germinal Matrix	brain
10	chr5:179263000-179271400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:179263000-179271800	Strong transcription	Fetal Lung	lung
12	chr5:179263000-179279600	Strong transcription	Brain Anterior Caudate	brain
13	chr5:179263000-179279800	Strong transcription	Brain Hippocampus Middle	brain
14	chr5:179263000-179280400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:179263600-179280200	Strong transcription	Colon Smooth Muscle	Colon
16	chr5:179263800-179271000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:179263800-179271800	Strong transcription	Ovary	ovary
18	chr5:179264000-179271200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr5:179264400-179271200	Strong transcription	Fetal Intestine Small	intestine
20	chr5:179264400-179273800	Weak transcription	K562	blood
21	chr5:179264400-179275000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:179264400-179275200	Weak transcription	Fetal Kidney	kidney
23	chr5:179264600-179271600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:179264600-179285000	Weak transcription	Psoas Muscle	Psoas
25	chr5:179264800-179274000	Weak transcription	Hela-S3	cervix
26	chr5:179264800-179274800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:179265000-179271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:179265000-179275200	Weak transcription	HUVEC	blood vessel
29	chr5:179265000-179285000	Weak transcription	Stomach Mucosa	stomach
30	chr5:179265200-179274400	Weak transcription	Small Intestine	intestine
31	chr5:179265400-179271400	Strong transcription	Spleen	Spleen
32	chr5:179265400-179271400	Weak transcription	Dnd41	blood
33	chr5:179265400-179272800	Weak transcription	HSMMtube	muscle
34	chr5:179265400-179273000	Weak transcription	Osteobl	bone
35	chr5:179265400-179274400	Weak transcription	NHEK	skin
36	chr5:179265800-179271000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:179265800-179271600	Weak transcription	GM12878-XiMat	blood
38	chr5:179265800-179271800	Weak transcription	NHDF-Ad	bronchial
39	chr5:179265800-179274800	Weak transcription	NH-A	brain
40	chr5:179266000-179270200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:179266200-179270000	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr5:179266400-179271400	Strong transcription	Aorta	Aorta
43	chr5:179266400-179277200	Weak transcription	HMEC	breast
44	chr5:179266600-179271400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:179266800-179271000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:179266800-179271800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:179266800-179275000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:179267000-179277600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:179267600-179274400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:179267800-179271400	Weak transcription	Adipose Nuclei	Adipose

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