Variant report

Variant	rs5744169
Chromosome Location	chr1:223285042-223285043
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	chr1:223283377..223285356-chr1:223290316..223292378,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1640841	1.00[EUR][1000 genomes]
rs2192618	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2215913	0.92[AFR][1000 genomes];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	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223276600-223287400	Weak transcription	Right Atrium	heart
2	chr1:223276600-223287600	Weak transcription	Right Ventricle	heart
3	chr1:223276800-223287400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:223276800-223302200	Weak transcription	Esophagus	oesophagus
5	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:223280400-223287200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:223281400-223286200	Enhancers	Fetal Intestine Small	intestine
8	chr1:223281600-223285400	Weak transcription	Lung	lung
9	chr1:223282000-223285800	Enhancers	Fetal Intestine Large	intestine
10	chr1:223282400-223302800	Weak transcription	Thymus	Thymus
11	chr1:223283200-223286400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:223283200-223287200	Weak transcription	Left Ventricle	heart
13	chr1:223283400-223302600	Weak transcription	Gastric	stomach
14	chr1:223283600-223288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:223284000-223286200	Strong transcription	Ovary	ovary
16	chr1:223284400-223287200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:223284400-223287400	Weak transcription	HUVEC	blood vessel
18	chr1:223284400-223296800	Weak transcription	Pancreas	Pancrea
19	chr1:223284600-223296800	Weak transcription	Stomach Mucosa	stomach
20	chr1:223284800-223285200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:223284800-223286000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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