Variant report

Variant	rs57778451
Chromosome Location	chr4:56341557-56341558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56335981..56338882-chr4:56341000..56342501,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs6813118	0.84[AFR][1000 genomes]
rs6856752	0.92[AFR][1000 genomes]
rs73151816	0.84[AFR][1000 genomes]
rs73151818	0.84[AFR][1000 genomes]
rs73151843	0.96[AFR][1000 genomes]
rs73151844	1.00[AFR][1000 genomes]
rs73151851	1.00[AFR][1000 genomes]
rs73151872	0.96[AFR][1000 genomes]
rs73153615	0.96[AFR][1000 genomes]
rs73155692	0.92[AFR][1000 genomes]
rs7655037	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56293000-56354800	Weak transcription	Aorta	Aorta
2	chr4:56302400-56375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:56304600-56365600	Weak transcription	Spleen	Spleen
4	chr4:56304800-56375800	Weak transcription	Pancreas	Pancrea
5	chr4:56306000-56361200	Weak transcription	Stomach Mucosa	stomach
6	chr4:56314400-56356400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:56314400-56377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:56315400-56357000	Weak transcription	Hela-S3	cervix
9	chr4:56318600-56363400	Weak transcription	HepG2	liver
10	chr4:56318800-56352400	Weak transcription	K562	blood
11	chr4:56318800-56358400	Weak transcription	Right Ventricle	heart
12	chr4:56326600-56343200	Strong transcription	Liver	Liver
13	chr4:56328600-56350600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:56332600-56365600	Weak transcription	Esophagus	oesophagus
15	chr4:56332600-56377800	Weak transcription	Gastric	stomach
16	chr4:56335000-56342800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:56336000-56376800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:56337400-56343000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:56337400-56377000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:56337600-56354600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:56337800-56342800	Strong transcription	Primary T cells from cord blood	blood
22	chr4:56339000-56342800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr4:56339200-56342200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr4:56339600-56342400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:56339600-56342800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr4:56339800-56341800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:56339800-56342400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:56339800-56342400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:56339800-56342400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr4:56339800-56342400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:56339800-56342600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:56339800-56342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:56339800-56342600	Strong transcription	Adipose Nuclei	Adipose
34	chr4:56339800-56342600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:56339800-56344000	Strong transcription	Placenta	Placenta
36	chr4:56340000-56341600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:56340000-56341600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:56340000-56341600	Strong transcription	Lung	lung
39	chr4:56340000-56341800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:56340000-56342400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:56340000-56342400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr4:56340000-56342400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:56340000-56342400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:56340000-56342400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr4:56340000-56342600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr4:56340000-56342600	Strong transcription	Left Ventricle	heart
47	chr4:56340000-56342800	Strong transcription	Fetal Intestine Large	intestine
48	chr4:56340000-56345600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr4:56340200-56341600	Strong transcription	Colon Smooth Muscle	Colon
50	chr4:56340200-56341600	ZNF genes & repeats	Fetal Kidney	kidney

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