Variant report

Variant	rs2357407
Chromosome Location	chr2:173270693-173270694
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	chr2:173268443..173272799-chr2:173274089..173275875,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12995721	1.00[ASN][1000 genomes]
rs13018866	1.00[ASN][1000 genomes]
rs34097932	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34098459	1.00[ASN][1000 genomes]
rs34484409	1.00[ASN][1000 genomes]
rs4972842	1.00[ASN][1000 genomes]
rs71415293	1.00[ASN][1000 genomes]
rs71415299	1.00[ASN][1000 genomes]
rs71415300	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173263400-173273000	Weak transcription	Right Atrium	heart
2	chr2:173263600-173272800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:173267600-173275600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:173267800-173274600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:173268600-173272800	Weak transcription	Esophagus	oesophagus
6	chr2:173268600-173272800	Weak transcription	Fetal Thymus	thymus
7	chr2:173268600-173272800	Weak transcription	Left Ventricle	heart
8	chr2:173268600-173272800	Weak transcription	Right Ventricle	heart
9	chr2:173269600-173273000	Weak transcription	HSMM	muscle
10	chr2:173270000-173272800	Weak transcription	HUVEC	blood vessel
11	chr2:173270000-173273000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:173270000-173273000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:173270000-173273000	Weak transcription	Fetal Kidney	kidney
14	chr2:173270000-173273800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:173270000-173277600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:173270200-173271400	Weak transcription	NHEK	skin
17	chr2:173270400-173271400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:173270400-173271600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:173270400-173277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:173270600-173271000	Weak transcription	HMEC	breast
21	chr2:173270600-173273000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:173270600-173273200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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