Variant report

Variant	rs45549034
Chromosome Location	chr4:175424802-175424803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs45468299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45487192	1.00[AMR][1000 genomes]
rs45561940	1.00[AMR][1000 genomes]
rs45590734	1.00[AMR][1000 genomes]
rs45625031	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835385	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835990	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv881270	chr4:175413296-175425619	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 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	chr4:175410800-175425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:175410800-175430800	Weak transcription	Gastric	stomach
5	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:175412000-175428400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:175414400-175428200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:175415600-175427600	Enhancers	Stomach Mucosa	stomach
9	chr4:175418000-175438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:175418600-175427000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:175418600-175427200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:175418600-175437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:175418800-175427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:175418800-175435600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:175419200-175438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:175419400-175431000	Weak transcription	Colonic Mucosa	Colon
17	chr4:175420400-175426200	Weak transcription	Small Intestine	intestine
18	chr4:175420600-175441000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:175421000-175426800	Weak transcription	Lung	lung
20	chr4:175421000-175428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:175421000-175428800	Weak transcription	Primary T cells from cord blood	blood
22	chr4:175421000-175439200	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:175423400-175425200	Enhancers	Fetal Intestine Small	intestine
24	chr4:175423800-175425000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:175423800-175427600	Strong transcription	Fetal Thymus	thymus
26	chr4:175424000-175425000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:175424000-175425000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:175424000-175425000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr4:175424000-175425000	Enhancers	Hela-S3	cervix
30	chr4:175424000-175425200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:175424000-175425200	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:175424000-175425400	Enhancers	Fetal Intestine Large	intestine
33	chr4:175424000-175425800	Strong transcription	Liver	Liver
34	chr4:175424000-175427600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:175424000-175429600	Strong transcription	Placenta	Placenta
36	chr4:175424600-175425000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:175424600-175425000	Genic enhancers	A549	lung
38	chr4:175424600-175426000	Strong transcription	Fetal Stomach	stomach
39	chr4:175424600-175427400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr4:175424800-175426800	Weak transcription	NHEK	skin
41	chr4:175424800-175427000	Weak transcription	HMEC	breast

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