Variant report

Variant	rs12306087
Chromosome Location	chr12:116974945-116974946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:116971915..116975712-chr12:116994698..116997472,3	MCF-7	breast:
2	chr12:116970629..116972206-chr12:116974747..116977388,2	MCF-7	breast:
3	chr12:116827977..116830260-chr12:116974076..116977049,2	MCF-7	breast:
4	chr12:116974299..116976845-chr12:116980092..116981659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196668	Chromatin interaction
ENSG00000171471	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11068066	0.91[AFR][1000 genomes]
rs12298771	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302744	1.00[AFR][1000 genomes]
rs12303400	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	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116972200-116975600	Weak transcription	Small Intestine	intestine
2	chr12:116972400-116975000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:116972400-116978400	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:116972600-116975000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:116972600-116976200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:116972600-116976600	Weak transcription	Right Atrium	heart
7	chr12:116972600-116976800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:116972600-116976800	Weak transcription	HUVEC	blood vessel
9	chr12:116972600-116977400	Weak transcription	HSMM	muscle
10	chr12:116972600-116977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:116972600-116977800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:116972800-116975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:116972800-116975000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:116972800-116975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:116972800-116975000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:116972800-116975000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:116972800-116975000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:116972800-116975000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:116972800-116975000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:116972800-116975200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:116972800-116976200	Weak transcription	Adipose Nuclei	Adipose
22	chr12:116972800-116976400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:116972800-116976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:116972800-116976400	Weak transcription	Esophagus	oesophagus
25	chr12:116972800-116976400	Weak transcription	Lung	lung
26	chr12:116972800-116976400	Weak transcription	Pancreas	Pancrea
27	chr12:116972800-116976400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:116972800-116976400	Weak transcription	HMEC	breast
29	chr12:116972800-116976600	Weak transcription	Left Ventricle	heart
30	chr12:116972800-116976800	Weak transcription	Hela-S3	cervix
31	chr12:116972800-116977000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:116972800-116977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:116972800-116977200	Weak transcription	Liver	Liver
34	chr12:116972800-116977200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:116972800-116977200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:116972800-116977200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:116972800-116977200	Weak transcription	Fetal Lung	lung
38	chr12:116972800-116977200	Weak transcription	Psoas Muscle	Psoas
39	chr12:116972800-116977600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:116972800-116977600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:116972800-116977600	Weak transcription	Right Ventricle	heart
42	chr12:116972800-116977800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:116972800-116980400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:116972800-116982000	Weak transcription	Ovary	ovary
45	chr12:116973000-116975000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:116973000-116975000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr12:116973000-116975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:116973000-116976200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:116973000-116976200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:116973000-116976200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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