Variant report

Variant	rs2468508
Chromosome Location	chr5:36449809-36449810
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	chr5:36391426..36394057-chr5:36449010..36450884,2	K562	blood:
2	chr5:36438756..36441045-chr5:36448106..36450259,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10941294	0.86[EUR][1000 genomes]
rs2455269	0.81[EUR][1000 genomes]
rs2455270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2455271	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2455272	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2455275	0.92[EUR][1000 genomes]
rs2455276	0.92[EUR][1000 genomes]
rs2455280	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2468507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2468510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468513	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468515	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2468516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468517	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468518	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2468537	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2937558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2956572	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62354544	0.84[EUR][1000 genomes]
rs62356876	0.84[EUR][1000 genomes]
rs62356877	0.88[EUR][1000 genomes]
rs62356878	0.84[EUR][1000 genomes]
rs62356879	0.84[EUR][1000 genomes]
rs72730760	0.98[EUR][1000 genomes]
rs7732757	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv597817	chr5:36433782-36460075	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv597818	chr5:36440940-36460462	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv597819	chr5:36445458-36472990	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1023545	chr5:36448895-36461331	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1016667	chr5:36448895-36464362	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763449	chr5:36448895-36464374	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36444400-36451800	Weak transcription	Fetal Kidney	kidney
2	chr5:36445000-36450400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:36445000-36451000	Weak transcription	HSMMtube	muscle
4	chr5:36445200-36450200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:36445400-36450400	Weak transcription	HSMM	muscle
6	chr5:36445400-36450400	Weak transcription	NH-A	brain
7	chr5:36445600-36450200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:36445600-36450400	Weak transcription	Osteobl	bone
9	chr5:36445800-36450600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:36445800-36452400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:36445800-36462800	Weak transcription	Esophagus	oesophagus
12	chr5:36446400-36452000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:36446600-36452400	Weak transcription	Placenta	Placenta
14	chr5:36447800-36450600	Enhancers	NHEK	skin
15	chr5:36448000-36452600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:36448000-36453800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:36448600-36450200	Weak transcription	Hela-S3	cervix
18	chr5:36449200-36452200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:36449200-36452800	Enhancers	HMEC	breast
20	chr5:36449800-36451200	Enhancers	Stomach Mucosa	stomach
21	chr5:36449800-36453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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