Variant report

Variant	rs56812046
Chromosome Location	chr4:175425825-175425826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17060544	1.00[AMR][1000 genomes]
rs17060612	1.00[EUR][1000 genomes]
rs2247362	1.00[EUR][1000 genomes]
rs2251807	1.00[EUR][1000 genomes]
rs2253170	1.00[EUR][1000 genomes]
rs2253270	1.00[EUR][1000 genomes]
rs2254225	1.00[EUR][1000 genomes]
rs2254350	1.00[EUR][1000 genomes]
rs2255737	1.00[EUR][1000 genomes]
rs2555630	1.00[EUR][1000 genomes]
rs2555631	1.00[EUR][1000 genomes]
rs2555661	1.00[EUR][1000 genomes]
rs2555668	1.00[EUR][1000 genomes]
rs2612657	1.00[EUR][1000 genomes]
rs2612660	1.00[EUR][1000 genomes]
rs2612661	1.00[EUR][1000 genomes]
rs2612678	1.00[EUR][1000 genomes]
rs2612688	1.00[EUR][1000 genomes]
rs28539757	1.00[EUR][1000 genomes]
rs45509091	1.00[EUR][1000 genomes]
rs45525332	1.00[EUR][1000 genomes]
rs45527531	1.00[EUR][1000 genomes]
rs45557833	1.00[EUR][1000 genomes]
rs45604244	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6825010	1.00[EUR][1000 genomes]
rs72997311	1.00[EUR][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	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880289	chr4:175412975-175437117	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:175410800-175430800	Weak transcription	Gastric	stomach
4	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:175412000-175428400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:175414400-175428200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:175415600-175427600	Enhancers	Stomach Mucosa	stomach
8	chr4:175418000-175438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:175418600-175427000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:175418600-175427200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:175418600-175437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:175418800-175427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:175418800-175435600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:175419200-175438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:175419400-175431000	Weak transcription	Colonic Mucosa	Colon
16	chr4:175420400-175426200	Weak transcription	Small Intestine	intestine
17	chr4:175420600-175441000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:175421000-175426800	Weak transcription	Lung	lung
19	chr4:175421000-175428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:175421000-175428800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:175421000-175439200	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:175423800-175427600	Strong transcription	Fetal Thymus	thymus
23	chr4:175424000-175427600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:175424000-175429600	Strong transcription	Placenta	Placenta
25	chr4:175424600-175426000	Strong transcription	Fetal Stomach	stomach
26	chr4:175424600-175427400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr4:175424800-175426800	Weak transcription	NHEK	skin
28	chr4:175424800-175427000	Weak transcription	HMEC	breast
29	chr4:175425000-175426200	Weak transcription	A549	lung
30	chr4:175425000-175426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:175425000-175426800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:175425000-175427000	Weak transcription	Hela-S3	cervix
33	chr4:175425000-175428800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:175425200-175427000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:175425200-175431800	Weak transcription	Fetal Intestine Small	intestine
36	chr4:175425800-175426400	Weak transcription	Liver	Liver
37	chr4:175425800-175427400	Enhancers	Duodenum Mucosa	Duodenum
38	chr4:175425800-175429200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:175425800-175429400	Strong transcription	Fetal Intestine Large	intestine

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