Variant report

Variant	rs2511727
Chromosome Location	chr8:103676000-103676001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103674994..103677007-chr8:103818020..103820756,2	MCF-7	breast:
2	chr8:103674710..103676295-chr8:103820852..103822638,2	MCF-7	breast:
3	chr8:103672071..103674387-chr8:103675400..103678194,2	K562	blood:
4	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
5	chr8:103611593..103614378-chr8:103673976..103676752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1991933	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053127	0.92[EUR][1000 genomes]
rs2436934	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436939	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511715	1.00[EUR][1000 genomes]
rs2511716	1.00[EUR][1000 genomes]
rs2511717	1.00[EUR][1000 genomes]
rs2511720	1.00[EUR][1000 genomes]
rs2511721	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511723	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511728	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511729	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919949	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103670800-103678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:103671000-103678600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:103671200-103678400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:103674600-103679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:103675200-103676000	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:103675200-103676800	Enhancers	Primary T cells from cord blood	blood
7	chr8:103675400-103676000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:103675400-103676000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr8:103675400-103676000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:103675400-103677000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:103675400-103678000	Weak transcription	Liver	Liver
12	chr8:103675400-103678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:103675400-103678400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:103675400-103678800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:103675400-103679000	Weak transcription	Hela-S3	cervix
16	chr8:103675400-103682600	Weak transcription	Right Ventricle	heart
17	chr8:103675400-103698200	Weak transcription	Osteobl	bone
18	chr8:103675600-103676200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:103675600-103677000	Weak transcription	Fetal Intestine Small	intestine
20	chr8:103675600-103678000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:103675600-103678200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:103675600-103678400	Weak transcription	Placenta	Placenta
23	chr8:103675600-103679800	Weak transcription	K562	blood
24	chr8:103675600-103692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:103675800-103688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:103676000-103678600	Weak transcription	Primary B cells from peripheral blood	blood

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