Variant report

Variant	rs12679488
Chromosome Location	chr8:90866777-90866778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90859420..90866965-chr8:90912674..90917180,23	MCF-7	breast:
2	chr8:90861478..90863438-chr8:90864534..90866909,2	MCF-7	breast:
3	chr8:90864006..90868898-chr8:90869518..90873896,4	K562	blood:
4	chr8:90864006..90868898-chr8:90869518..90873802,5	K562	blood:
5	chr8:90866711..90872793-chr8:90887380..90891820,9	MCF-7	breast:
6	chr8:90858582..90866507-chr8:90866541..90873248,10	MCF-7	breast:
7	chr8:90860679..90862898-chr8:90864045..90867127,3	K562	blood:
8	chr8:90855177..90868995-chr8:90994125..91001070,26	MCF-7	breast:
9	chr8:90854658..90857066-chr8:90864684..90867899,3	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11995005	1.00[TSI][hapmap]
rs12547410	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes]
rs12549920	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12676583	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679438	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679456	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs12682082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901218	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs16901236	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs16901239	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes]
rs2141402	1.00[AFR][1000 genomes]
rs4961163	1.00[AFR][1000 genomes]
rs60102648	1.00[AFR][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90861000-90868400	Weak transcription	Ovary	ovary
2	chr8:90861000-90870200	Weak transcription	HMEC	breast
3	chr8:90861000-90871000	Weak transcription	Right Atrium	heart
4	chr8:90861200-90869600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:90861200-90869800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:90861400-90869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:90861600-90868200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:90861600-90868200	Weak transcription	HSMM	muscle
9	chr8:90861800-90869200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:90861800-90869200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:90861800-90870200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:90864800-90870400	Weak transcription	Aorta	Aorta
13	chr8:90865400-90867400	Enhancers	A549	lung
14	chr8:90866600-90867200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:90866600-90873400	Enhancers	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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