Variant report

Variant	rs12303400
Chromosome Location	chr12:116976290-116976291
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:116870032..116871655-chr12:116975308..116976857,2	MCF-7	breast:
2	chr12:116957046..116958722-chr12:116975166..116976797,2	MCF-7	breast:
3	chr12:116970629..116972206-chr12:116974747..116977388,2	MCF-7	breast:
4	chr12:116827977..116830260-chr12:116974076..116977049,2	MCF-7	breast:
5	chr12:116666696..116668978-chr12:116975851..116977851,2	MCF-7	breast:
6	chr12:116976160..116978024-chr12:116997996..116999867,2	K562	blood:
7	chr12:116974299..116976845-chr12:116980092..116981659,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196668	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11068066	0.91[AFR][1000 genomes]
rs12099899	1.00[MEX][hapmap]
rs12298771	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302744	1.00[AFR][1000 genomes]
rs12306087	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946926	1.00[MEX][hapmap]
rs7138184	1.00[MEX][hapmap]

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	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116972400-116978400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:116972600-116976600	Weak transcription	Right Atrium	heart
3	chr12:116972600-116976800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:116972600-116976800	Weak transcription	HUVEC	blood vessel
5	chr12:116972600-116977400	Weak transcription	HSMM	muscle
6	chr12:116972600-116977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:116972600-116977800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:116972800-116976400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:116972800-116976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:116972800-116976400	Weak transcription	Esophagus	oesophagus
11	chr12:116972800-116976400	Weak transcription	Lung	lung
12	chr12:116972800-116976400	Weak transcription	Pancreas	Pancrea
13	chr12:116972800-116976400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:116972800-116976400	Weak transcription	HMEC	breast
15	chr12:116972800-116976600	Weak transcription	Left Ventricle	heart
16	chr12:116972800-116976800	Weak transcription	Hela-S3	cervix
17	chr12:116972800-116977000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:116972800-116977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:116972800-116977200	Weak transcription	Liver	Liver
20	chr12:116972800-116977200	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:116972800-116977200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:116972800-116977200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:116972800-116977200	Weak transcription	Fetal Lung	lung
24	chr12:116972800-116977200	Weak transcription	Psoas Muscle	Psoas
25	chr12:116972800-116977600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:116972800-116977600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:116972800-116977600	Weak transcription	Right Ventricle	heart
28	chr12:116972800-116977800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:116972800-116980400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:116972800-116982000	Weak transcription	Ovary	ovary
31	chr12:116973000-116976400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:116973000-116976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:116973000-116976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:116973000-116976600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:116973000-116976800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:116973000-116977000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:116973000-116977000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:116973000-116977000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:116973000-116977000	Weak transcription	NH-A	brain
40	chr12:116973000-116977200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:116973000-116977200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:116973000-116977200	Weak transcription	Osteobl	bone
43	chr12:116973000-116977400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:116973000-116977400	Weak transcription	Brain Angular Gyrus	brain
45	chr12:116973000-116977400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:116973000-116977400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:116973000-116977600	Weak transcription	K562	blood
48	chr12:116973000-116986000	Weak transcription	Aorta	Aorta
49	chr12:116973200-116976400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:116973200-116976400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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