Variant report

Variant	rs60341493
Chromosome Location	chr2:205344222-205344223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10490267	0.85[ASN][1000 genomes]
rs13001546	0.94[ASN][1000 genomes]
rs13005161	0.85[ASN][1000 genomes]
rs13007075	0.85[ASN][1000 genomes]
rs1550909	0.92[ASN][1000 genomes]
rs17637778	0.85[ASN][1000 genomes]
rs34816339	0.88[ASN][1000 genomes]
rs71427750	0.84[ASN][1000 genomes]
rs71427751	0.96[ASN][1000 genomes]
rs71427753	0.83[ASN][1000 genomes]
rs921163	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1012465	chr2:205335630-205349444	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2756958	chr2:205342727-205348724	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759110	chr2:205342727-205348724	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2760586	chr2:205343459-205348724	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv10212	chr2:205343655-205349471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3459945	chr2:205343733-205349272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3459944	chr2:205343750-205349254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3459946	chr2:205343750-205349254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv18468	chr2:205343819-205349083	Weak transcription Enhancers	Chromatin interactive region	1 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	chr2:205338200-205350400	Weak transcription	NHLF	lung
2	chr2:205341400-205345200	Weak transcription	Fetal Kidney	kidney
3	chr2:205341400-205345800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:205341400-205348400	Weak transcription	HSMMtube	muscle
5	chr2:205341600-205351400	Weak transcription	Aorta	Aorta
6	chr2:205342400-205344400	Weak transcription	NHDF-Ad	bronchial
7	chr2:205342400-205344600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:205342600-205345400	Enhancers	NHEK	skin
9	chr2:205343400-205344600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:205343600-205344600	Enhancers	Fetal Thymus	thymus
11	chr2:205343800-205344800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:205343800-205344800	Enhancers	HUVEC	blood vessel
13	chr2:205344000-205344400	Enhancers	Lung	lung
14	chr2:205344000-205344600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:205344000-205344600	Enhancers	NH-A	brain
16	chr2:205344000-205345400	Enhancers	K562	blood
17	chr2:205344200-205344600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:205344200-205344600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:205344200-205344600	Enhancers	Osteobl	bone
20	chr2:205344200-205344800	Enhancers	HSMM	muscle
21	chr2:205344200-205345000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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