Variant report

Variant	rs11169312
Chromosome Location	chr12:50588083-50588084
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50580197..50581923-chr12:50586405..50588102,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10450773	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10783341	0.80[ASN][1000 genomes]
rs10876011	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1862044	0.90[ASN][1000 genomes]
rs7300549	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73106156	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7397849	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50570400-50592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:50570800-50589800	Strong transcription	Fetal Stomach	stomach
6	chr12:50571800-50595800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:50571800-50597000	Weak transcription	Thymus	Thymus
8	chr12:50571800-50597600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
11	chr12:50576600-50595000	Weak transcription	A549	lung
12	chr12:50579600-50598000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:50580400-50595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:50581800-50601000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:50582000-50592000	Weak transcription	Fetal Kidney	kidney
16	chr12:50582000-50596000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:50582400-50596200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:50582400-50598200	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:50582400-50600000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:50582600-50589200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:50582600-50593000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:50582600-50597000	Weak transcription	Fetal Brain Female	brain
23	chr12:50582600-50598000	Weak transcription	Psoas Muscle	Psoas
24	chr12:50582600-50598200	Weak transcription	Pancreas	Pancrea
25	chr12:50582800-50589000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:50582800-50592000	Weak transcription	Spleen	Spleen
27	chr12:50582800-50592600	Weak transcription	Fetal Brain Male	brain
28	chr12:50582800-50614000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:50582800-50614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:50583000-50592800	Weak transcription	Esophagus	oesophagus
31	chr12:50583000-50592800	Weak transcription	Gastric	stomach
32	chr12:50583000-50594200	Weak transcription	Ovary	ovary
33	chr12:50583000-50614400	Weak transcription	Brain Anterior Caudate	brain
34	chr12:50583200-50589200	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:50583200-50592800	Weak transcription	Small Intestine	intestine
36	chr12:50583400-50598200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:50583400-50600800	Strong transcription	Adipose Nuclei	Adipose
38	chr12:50583600-50591800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:50584600-50594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:50584600-50595400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:50584600-50595800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:50584600-50596400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:50585200-50591600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:50585200-50592000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:50585400-50588200	Weak transcription	Colonic Mucosa	Colon
48	chr12:50585400-50588400	Weak transcription	Placenta	Placenta
49	chr12:50585400-50589800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:50585400-50594000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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