Variant report

Variant	rs7305316
Chromosome Location	chr12:116863169-116863170
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:116827133..116831140-chr12:116860978..116865806,7	MCF-7	breast:
2	chr12:116713061..116717108-chr12:116860033..116868382,13	MCF-7	breast:
3	chr12:116861189..116865677-chr12:116930751..116933434,4	MCF-7	breast:
4	chr12:116855904..116857605-chr12:116861971..116863958,2	MCF-7	breast:
5	chr12:116862737..116864575-chr12:117134402..117135902,2	MCF-7	breast:
6	chr12:116862734..116864290-chr12:117037088..117038676,2	MCF-7	breast:
7	chr12:116842396..116845943-chr12:116861127..116865065,6	MCF-7	breast:
8	chr12:116772348..116774581-chr12:116862812..116865326,2	MCF-7	breast:
9	chr12:116831911..116834064-chr12:116861978..116863486,2	MCF-7	breast:
10	chr12:116714988..116717524-chr12:116861718..116863964,2	MCF-7	breast:
11	chr12:116862474..116864567-chr12:116876098..116878521,3	MCF-7	breast:
12	chr12:116858970..116860681-chr12:116862728..116865463,2	MCF-7	breast:
13	chr12:116847212..116851109-chr12:116861228..116866038,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123066	Chromatin interaction

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

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

rs_ID	r²[population]
rs10744874	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10744875	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10744876	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774859	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850629	0.91[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850632	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2091676	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7136301	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139285	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306019	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][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	nsv973993	chr12:116861012-116874861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116854200-116864000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:116854400-116863600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:116855000-116863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:116859000-116863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:116860200-116863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:116860200-116864400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:116861000-116863600	Weak transcription	NHLF	lung
8	chr12:116861200-116864000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:116861400-116863200	Weak transcription	Osteobl	bone
10	chr12:116861400-116863400	Weak transcription	NHDF-Ad	bronchial
11	chr12:116861400-116863600	Weak transcription	Ovary	ovary
12	chr12:116861400-116863800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:116861400-116863800	Weak transcription	Fetal Stomach	stomach
14	chr12:116861400-116864000	Weak transcription	Fetal Lung	lung
15	chr12:116861400-116864800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:116861600-116863400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:116861600-116864200	Weak transcription	Fetal Intestine Large	intestine
18	chr12:116861800-116863200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:116861800-116863600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:116862400-116863800	Enhancers	A549	lung
21	chr12:116862400-116865600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:116862400-116865800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:116862600-116863200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:116862800-116863800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:116863000-116863200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:116863000-116864800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:116863000-116867200	Enhancers	Placenta	Placenta

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