Variant report

Variant	rs2192618
Chromosome Location	chr1:223280666-223280667
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	chr1:223275284..223278279-chr1:223280567..223284100,3	MCF-7	breast:

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]
rs2215913	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5744169	0.97[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:23 , 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	chr1:223277000-223281400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:223277000-223281800	Weak transcription	Stomach Mucosa	stomach
9	chr1:223277000-223282000	Weak transcription	Fetal Intestine Large	intestine
10	chr1:223277000-223282800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:223278600-223281600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:223280000-223280800	Enhancers	HUVEC	blood vessel
14	chr1:223280000-223281000	Enhancers	Colon Smooth Muscle	Colon
15	chr1:223280200-223281000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:223280200-223281000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:223280200-223281000	Enhancers	Fetal Muscle Leg	muscle
18	chr1:223280200-223281000	Enhancers	Left Ventricle	heart
19	chr1:223280200-223281200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:223280200-223281600	Enhancers	Lung	lung
21	chr1:223280200-223282600	Enhancers	Spleen	Spleen
22	chr1:223280200-223284400	Enhancers	Pancreas	Pancrea
23	chr1:223280400-223287200	Weak transcription	Rectal Smooth Muscle	rectum

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