Variant report

Variant	rs5744188
Chromosome Location	chr1:223282848-223282849
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	chr1:223280817..223282903-chr1:223283334..223285071,2	MCF-7	breast:
2	chr1:223275284..223278279-chr1:223280567..223284100,3	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1640841	1.00[AMR][1000 genomes]
rs5744167	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223276000-223283800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:223276600-223284000	Weak transcription	Ovary	ovary
3	chr1:223276600-223287400	Weak transcription	Right Atrium	heart
4	chr1:223276600-223287600	Weak transcription	Right Ventricle	heart
5	chr1:223276800-223287400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:223276800-223302200	Weak transcription	Esophagus	oesophagus
7	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:223280200-223284400	Enhancers	Pancreas	Pancrea
9	chr1:223280400-223287200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:223281000-223283200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:223281200-223284200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:223281400-223286200	Enhancers	Fetal Intestine Small	intestine
13	chr1:223281600-223283400	Enhancers	Gastric	stomach
14	chr1:223281600-223285400	Weak transcription	Lung	lung
15	chr1:223281800-223283200	Enhancers	Left Ventricle	heart
16	chr1:223281800-223284400	Enhancers	HUVEC	blood vessel
17	chr1:223281800-223284600	Enhancers	Stomach Mucosa	stomach
18	chr1:223282000-223285800	Enhancers	Fetal Intestine Large	intestine
19	chr1:223282400-223283600	Enhancers	Small Intestine	intestine
20	chr1:223282400-223284000	Enhancers	HepG2	liver
21	chr1:223282400-223284200	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:223282400-223302800	Weak transcription	Thymus	Thymus
23	chr1:223282600-223283400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:223282800-223283200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:223282800-223283600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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