Variant report

Variant	rs2677580
Chromosome Location	chr8:91951215-91951216
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91949435..91952170-chr8:91955525..91958479,3	K562	blood:
2	chr8:91656931..91659194-chr8:91950733..91953046,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1002583	0.81[AMR][1000 genomes]
rs1003996	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10108486	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10112439	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1011254	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12675931	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13265644	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13276591	0.84[EUR][1000 genomes]
rs1386111	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1386112	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1542666	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054805	0.84[EUR][1000 genomes]
rs2129261	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255173	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2339289	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2339291	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631012	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2631014	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2631017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631024	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631027	0.82[ASN][1000 genomes]
rs2631030	0.87[ASN][1000 genomes]
rs2631033	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2677573	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2740776	0.89[EUR][1000 genomes]
rs2740782	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2740795	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2740799	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4448231	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4634599	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7005565	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7018395	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818155	0.83[EUR][1000 genomes]
rs7825360	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7828122	0.84[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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91916400-91953000	Weak transcription	Aorta	Aorta
2	chr8:91934800-91952200	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:91948400-91953200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:91949000-91952200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:91949000-91952400	Weak transcription	Brain Anterior Caudate	brain
6	chr8:91949000-91952400	Weak transcription	Brain Substantia Nigra	brain
7	chr8:91949200-91951800	Weak transcription	Fetal Lung	lung
8	chr8:91949200-91952000	Weak transcription	Fetal Brain Female	brain
9	chr8:91949200-91952400	Weak transcription	Brain Angular Gyrus	brain
10	chr8:91949200-91952800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:91949400-91952000	Weak transcription	Fetal Brain Male	brain
12	chr8:91949400-91952200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:91949400-91952400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:91949600-91952400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:91949600-91952800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:91950000-91953200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:91950200-91952200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:91950600-91952800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:91950800-91952600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:91950800-91953200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:91950800-91953400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:91951000-91951400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:91951000-91951800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:91951000-91951800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr8:91951000-91952600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:91951000-91953000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:91951000-91953400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:91951200-91951800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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