Variant report

Variant	rs4704711
Chromosome Location	chr5:80544049-80544050
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
2	FOS	chr5:80543307-80544161	HUVEC	blood vessel:	n/a	chr5:80543733-80543742 chr5:80543732-80543742 chr5:80543734-80543741 chr5:80543619-80543633 chr5:80543731-80543743 chr5:80543733-80543741 chr5:80543402-80543414 chr5:80543731-80543742 chr5:80543731-80543738
3	EP300	chr5:80543427-80544095	SK-N-SH_RA	brain:	n/a	chr5:80543597-80543606 chr5:80543940-80543953 chr5:80543733-80543742 chr5:80543732-80543741
4	FOSL1	chr5:80543424-80544054	HCT-116	colon:	n/a	chr5:80543733-80543742 chr5:80543732-80543742 chr5:80543734-80543741 chr5:80543619-80543633 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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10041138	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10052929	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10061143	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12514420	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12519433	0.85[CEU][hapmap]
rs1566433	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17228569	0.84[CEU][hapmap]
rs2124888	0.96[CEU][hapmap]
rs2406557	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3756636	0.96[CEU][hapmap]
rs3776980	0.80[JPT][hapmap]
rs4502795	0.91[CEU][hapmap]
rs4704713	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4704714	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57040652	0.84[AMR][1000 genomes]
rs6863732	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6868762	0.87[CEU][hapmap]
rs6871676	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6885028	0.81[CEU][hapmap]
rs6896441	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6898834	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7709071	0.81[CEU][hapmap]
rs7709149	0.83[CEU][hapmap]
rs7718501	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7734902	0.87[CEU][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:90 , 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	chr5:80529400-80544200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:80529400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:80529600-80545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:80530000-80546400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:80530800-80556400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:80531200-80551200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:80531200-80556400	Weak transcription	Thymus	Thymus
10	chr5:80531200-80564200	Weak transcription	HepG2	liver
11	chr5:80531800-80555800	Weak transcription	Fetal Lung	lung
12	chr5:80532000-80548400	Weak transcription	Lung	lung
13	chr5:80532200-80548400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:80532200-80551000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:80532200-80556800	Weak transcription	Dnd41	blood
16	chr5:80532600-80545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:80536200-80547800	Weak transcription	Spleen	Spleen
18	chr5:80536200-80548600	Weak transcription	Fetal Intestine Small	intestine
19	chr5:80537800-80545400	Genic enhancers	Left Ventricle	heart
20	chr5:80538400-80545000	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:80538400-80551400	Weak transcription	GM12878-XiMat	blood
22	chr5:80538800-80544800	Enhancers	Brain Hippocampus Middle	brain
23	chr5:80539000-80555200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:80539200-80545200	Enhancers	Brain Substantia Nigra	brain
25	chr5:80539200-80548400	Weak transcription	Gastric	stomach
26	chr5:80540000-80544200	Enhancers	HSMMtube	muscle
27	chr5:80540200-80545400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:80540400-80544200	Enhancers	Stomach Mucosa	stomach
29	chr5:80540400-80544600	Enhancers	Brain Angular Gyrus	brain
30	chr5:80540800-80545400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:80541000-80544800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:80541200-80544200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:80541200-80544200	Enhancers	HMEC	breast
34	chr5:80541200-80544400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:80541200-80544400	Enhancers	Brain Anterior Caudate	brain
36	chr5:80541400-80544600	Enhancers	Ovary	ovary
37	chr5:80541400-80549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:80541600-80544400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:80541800-80544400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:80541800-80544600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:80541800-80550600	Weak transcription	Fetal Intestine Large	intestine
42	chr5:80541800-80564400	Weak transcription	A549	lung
43	chr5:80542000-80544200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:80542000-80545000	Enhancers	Fetal Heart	heart
45	chr5:80542200-80544200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:80542200-80545600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:80542200-80557000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:80542400-80544200	Enhancers	Adipose Nuclei	Adipose
49	chr5:80542400-80544400	Enhancers	Right Atrium	heart
50	chr5:80542400-80544800	Enhancers	Stomach Smooth Muscle	stomach

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