Variant report

Variant	rs17100671
Chromosome Location	chr12:65196041-65196042
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:65194914..65196690-chr12:65283307..65285161,8	MCF-7	breast:
2	chr12:65152347..65154662-chr12:65194085..65196162,2	MCF-7	breast:
3	chr12:65195705..65196620-chr12:65516948..65517477,2	K562	blood:
4	chr12:65192497..65197582-chr12:65216836..65220257,7	MCF-7	breast:
5	chr12:65195270..65196600-chr12:65500546..65501451,4	MCF-7	breast:
6	chr12:65173947..65175751-chr12:65193564..65196222,2	MCF-7	breast:
7	chr12:65194947..65196660-chr12:65516651..65517923,9	MCF-7	breast:
8	chr12:65195635..65196570-chr12:65217919..65218838,2	MCF-7	breast:
9	chr12:65194434..65196202-chr12:65213158..65215615,2	MCF-7	breast:
10	chr12:65195741..65196513-chr12:65676696..65677615,2	MCF-7	breast:
11	chr12:65173991..65175257-chr12:65195112..65196270,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111490	Chromatin interaction
ENSG00000135677	Chromatin interaction
ENSG00000215159	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17100600	1.00[ASW][hapmap];0.82[LWK][hapmap]
rs17100604	1.00[ASW][hapmap];0.82[LWK][hapmap]
rs17100611	1.00[ASW][hapmap]
rs17100618	1.00[ASW][hapmap];0.94[LWK][hapmap]
rs17100696	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100699	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100704	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100705	1.00[ASW][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100711	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100715	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56916115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9888397	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65190400-65200200	Weak transcription	HUVEC	blood vessel
2	chr12:65192200-65196200	Enhancers	GM12878-XiMat	blood
3	chr12:65193800-65196200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:65194000-65196200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:65194000-65216200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:65194400-65207600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:65194600-65196200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:65194600-65204000	Weak transcription	Stomach Mucosa	stomach
9	chr12:65195000-65196200	Enhancers	A549	lung
10	chr12:65195200-65201800	Weak transcription	Pancreas	Pancrea
11	chr12:65195600-65196200	Enhancers	Hela-S3	cervix
12	chr12:65195800-65196200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr12:65195800-65196200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:65195800-65196200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:65195800-65196200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
16	chr12:65195800-65196200	Enhancers	Liver	Liver
17	chr12:65195800-65196200	Enhancers	Brain Anterior Caudate	brain
18	chr12:65196000-65196200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:65196000-65196200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:65196000-65196200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr12:65196000-65196200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:65196000-65196200	Enhancers	Brain Germinal Matrix	brain
23	chr12:65196000-65196200	Enhancers	Fetal Thymus	thymus
24	chr12:65196000-65196200	Enhancers	Lung	lung
25	chr12:65196000-65196200	Enhancers	Ovary	ovary

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