Variant report

Variant	rs4704713
Chromosome Location	chr5:80544325-80544326
allele	A/G
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	JUND	chr5:80543430-80544330	SK-N-SH	brain:	n/a	chr5:80543733-80543742 chr5:80543732-80543742 chr5:80543734-80543741 chr5:80543619-80543633 chr5:80543731-80543742 chr5:80543731-80543743 chr5:80543733-80543741 chr5:80543731-80543738

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80543196..80546159-chr5:80550500..80552357,3	K562	blood:
2	chr5:80543196..80545536-chr5:80550500..80552357,2	K562	blood:

Variant related genes	Relation type
CKMT2	TF binding region
ENSG00000131730	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10041138	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10052929	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10061143	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1039326	0.92[JPT][hapmap]
rs12514420	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1566433	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2124888	0.80[EUR][1000 genomes]
rs2406557	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4502795	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4704711	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4704714	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4704717	0.81[ASN][1000 genomes]
rs57040652	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57266451	0.84[ASN][1000 genomes]
rs6863732	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6868743	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6871676	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6889795	0.84[ASN][1000 genomes]
rs6896441	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7718501	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs871701	0.84[JPT][hapmap]
rs955948	0.95[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2763877	chr5:80535750-80545341	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80527000-80546200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
3	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:80529600-80545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:80530000-80546400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:80531200-80551200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
9	chr5:80531200-80564200	Weak transcription	HepG2	liver
10	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
11	chr5:80532000-80548400	Weak transcription	Lung	lung
12	chr5:80532200-80548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:80532200-80551000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:80532200-80556800	Weak transcription	Dnd41	blood
15	chr5:80532600-80545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:80536200-80547800	Weak transcription	Spleen	Spleen
17	chr5:80536200-80548600	Weak transcription	Fetal Intestine Small	intestine
18	chr5:80537800-80545400	Genic enhancers	Left Ventricle	heart
19	chr5:80538400-80545000	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:80538400-80551400	Weak transcription	GM12878-XiMat	blood
21	chr5:80538800-80544800	Enhancers	Brain Hippocampus Middle	brain
22	chr5:80539000-80555200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:80539200-80545200	Enhancers	Brain Substantia Nigra	brain
24	chr5:80539200-80548400	Weak transcription	Gastric	stomach
25	chr5:80540200-80545400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:80540400-80544600	Enhancers	Brain Angular Gyrus	brain
27	chr5:80540800-80545400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:80541000-80544800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:80541200-80544400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:80541200-80544400	Enhancers	Brain Anterior Caudate	brain
31	chr5:80541400-80544600	Enhancers	Ovary	ovary
32	chr5:80541400-80549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:80541600-80544400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:80541800-80544400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:80541800-80544600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:80541800-80550600	Weak transcription	Fetal Intestine Large	intestine
37	chr5:80541800-80564400	Weak transcription	A549	lung
38	chr5:80542000-80545000	Enhancers	Fetal Heart	heart
39	chr5:80542200-80545600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:80542200-80557000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:80542400-80544400	Enhancers	Right Atrium	heart
42	chr5:80542400-80544800	Enhancers	Stomach Smooth Muscle	stomach
43	chr5:80542400-80548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:80542600-80544400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:80542600-80544400	Enhancers	Right Ventricle	heart
46	chr5:80542600-80544600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:80542800-80544400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:80542800-80544400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:80542800-80544400	Enhancers	NH-A	brain
50	chr5:80542800-80546200	Weak transcription	Primary T cells from cord blood	blood

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