Variant report

Variant	rs1365614
Chromosome Location	chr4:175442552-175442553
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175441347..175443047-chr4:175456721..175458748,2	K562	blood:
2	chr1:99961025..99961526-chr4:175442445..175442945,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251584	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17060592	0.87[AMR][1000 genomes]
rs45463692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73867618	0.89[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	nsv880970	chr4:175434394-175444006	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv880884	chr4:175439056-175453830	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175427400-175443000	Weak transcription	Lung	lung
3	chr4:175429400-175442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:175433200-175442600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:175439600-175442600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:175439600-175442800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:175440000-175444000	Active TSS	Liver	Liver
8	chr4:175440800-175443000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:175440800-175446000	Active TSS	Duodenum Mucosa	Duodenum
10	chr4:175441000-175443000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:175441000-175443000	Weak transcription	Spleen	Spleen
12	chr4:175441200-175442800	Active TSS	Fetal Stomach	stomach
13	chr4:175441400-175442800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:175441400-175442800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:175441600-175442600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:175441600-175442600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:175441600-175442800	Active TSS	Placenta	Placenta
18	chr4:175441600-175444200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr4:175441800-175442600	Weak transcription	Stomach Mucosa	stomach
20	chr4:175441800-175442800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr4:175441800-175442800	Active TSS	Fetal Thymus	thymus
22	chr4:175442000-175442600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:175442000-175444800	Active TSS	Rectal Smooth Muscle	rectum
24	chr4:175442000-175445200	Active TSS	A549	lung
25	chr4:175442400-175442600	Weak transcription	Adipose Nuclei	Adipose
26	chr4:175442400-175442600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:175442400-175442600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr4:175442400-175442800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr4:175442400-175443000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr4:175442400-175443400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr4:175442400-175443600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr4:175442400-175444400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:175442400-175445400	Active TSS	Fetal Intestine Large	intestine

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