Variant report

Variant	rs8082459
Chromosome Location	chr17:17370055-17370056
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	chr17:17367351..17374142-chr17:17375377..17382594,8	MCF-7	breast:
2	chr17:17367834..17370645-chr22:35627497..35629414,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141026	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs8079397	1.00[AFR][1000 genomes]
rs874537	1.00[AFR][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	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8082459	TOM1L2	cis	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17363600-17371000	Weak transcription	Pancreas	Pancrea
2	chr17:17363600-17380000	Weak transcription	Right Atrium	heart
3	chr17:17363800-17380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:17366000-17370800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:17366000-17371000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr17:17367000-17370800	Weak transcription	Fetal Intestine Small	intestine
7	chr17:17369400-17372600	Enhancers	Brain Germinal Matrix	brain
8	chr17:17369600-17370800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:17369800-17371200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr17:17369800-17371200	Enhancers	Brain Angular Gyrus	brain
11	chr17:17369800-17371400	Enhancers	Brain Cingulate Gyrus	brain
12	chr17:17369800-17371400	Enhancers	HSMM	muscle
13	chr17:17369800-17371400	Enhancers	HSMMtube	muscle
14	chr17:17369800-17372000	Enhancers	Brain Hippocampus Middle	brain
15	chr17:17369800-17372000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr17:17369800-17372400	Enhancers	Fetal Brain Male	brain
17	chr17:17369800-17374400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:17370000-17370400	Flanking Active TSS	Fetal Brain Female	brain
19	chr17:17370000-17371200	Enhancers	Brain Anterior Caudate	brain
20	chr17:17370000-17371400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:17370000-17371400	Enhancers	Brain Substantia Nigra	brain
22	chr17:17370000-17371600	Enhancers	Hela-S3	cervix
23	chr17:17370000-17372200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:17370000-17372800	Enhancers	Fetal Muscle Leg	muscle

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