Variant report

Variant	rs56027035
Chromosome Location	chr12:106509838-106509839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106508004..106509932-chr12:106531212..106534015,2	MCF-7	breast:
2	chr12:106508033..106510439-chr12:106525207..106527299,2	MCF-7	breast:
3	chr12:106508433..106510646-chr12:106520265..106522295,2	MCF-7	breast:
4	chr12:106508626..106511209-chr12:106513062..106515642,2	K562	blood:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

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

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

rs_ID	r²[population]
rs10492351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112866	0.80[ASN][1000 genomes]
rs12318540	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3782692	0.86[ASN][1000 genomes]
rs55748925	0.80[ASN][1000 genomes]
rs55941206	0.89[EUR][1000 genomes]
rs7138598	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106493400-106512400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:106499600-106511400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:106500000-106510000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:106500200-106510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:106500200-106514000	Enhancers	Liver	Liver
6	chr12:106500800-106510200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:106500800-106521800	Enhancers	Brain Angular Gyrus	brain
8	chr12:106501200-106516800	Enhancers	Right Ventricle	heart
9	chr12:106501400-106510400	Enhancers	Fetal Brain Female	brain
10	chr12:106502400-106510000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:106503600-106510800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:106504200-106524600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:106504800-106529000	Enhancers	Left Ventricle	heart
14	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
15	chr12:106505800-106510000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:106505800-106510200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:106505800-106510400	Enhancers	Fetal Brain Male	brain
18	chr12:106506000-106510800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:106506000-106523800	Enhancers	Psoas Muscle	Psoas
20	chr12:106506200-106513800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:106506400-106515400	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:106507200-106512000	Weak transcription	Esophagus	oesophagus
23	chr12:106507200-106520600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:106507400-106510400	Weak transcription	HepG2	liver
25	chr12:106507400-106510800	Enhancers	Brain Hippocampus Middle	brain
26	chr12:106507400-106523600	Enhancers	Adipose Nuclei	Adipose
27	chr12:106507600-106512000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:106507800-106512200	Weak transcription	Fetal Kidney	kidney
29	chr12:106507800-106513000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:106507800-106518000	Enhancers	Brain Substantia Nigra	brain
31	chr12:106508000-106513200	Enhancers	Fetal Heart	heart
32	chr12:106508200-106510000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:106508200-106510400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:106508200-106511800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:106508200-106512000	Weak transcription	Fetal Intestine Large	intestine
36	chr12:106508400-106510000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:106508400-106513800	Weak transcription	Colonic Mucosa	Colon
38	chr12:106508400-106513800	Weak transcription	Ovary	ovary
39	chr12:106508400-106523600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:106508600-106510000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:106508600-106510200	Enhancers	HSMMtube	muscle
42	chr12:106508600-106511800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:106508600-106513800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:106508600-106526600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:106508800-106512000	Weak transcription	NHDF-Ad	bronchial
46	chr12:106508800-106512200	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:106508800-106513000	Weak transcription	NHLF	lung
48	chr12:106509000-106510000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr12:106509000-106511200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:106509000-106512200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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