Variant report

Variant	rs747855
Chromosome Location	chr12:106215466-106215467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106211531..106213143-chr12:106215086..106217327,2	K562	blood:
2	chr12:106215067..106216772-chr12:106227584..106230046,2	K562	blood:
3	chr12:106205255..106208191-chr12:106215389..106217640,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10778450	0.91[ASN][1000 genomes]
rs11112747	0.83[AFR][1000 genomes]
rs11112748	0.85[ASN][1000 genomes]
rs11112749	0.81[AFR][1000 genomes]
rs1345551	0.81[ASN][1000 genomes]
rs4964418	0.85[ASN][1000 genomes]
rs4964419	0.85[ASN][1000 genomes]
rs747856	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106207400-106216000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:106208200-106215600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:106212400-106216000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:106212600-106216800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:106212600-106217000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:106212800-106216000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:106213000-106215800	Weak transcription	Lung	lung
8	chr12:106213800-106215800	Enhancers	Brain Hippocampus Middle	brain
9	chr12:106213800-106217000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:106214000-106215600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:106214000-106215600	Enhancers	HSMM	muscle
12	chr12:106214000-106215800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:106214000-106216000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:106214000-106216000	Enhancers	Adipose Nuclei	Adipose
15	chr12:106214000-106216000	Enhancers	Aorta	Aorta
16	chr12:106214000-106216000	Enhancers	Right Atrium	heart
17	chr12:106214000-106216000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:106214000-106216200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:106214000-106216200	Enhancers	Psoas Muscle	Psoas
20	chr12:106214000-106216200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:106214200-106215600	Enhancers	Brain Substantia Nigra	brain
22	chr12:106214200-106215800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:106214200-106216200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:106214200-106216200	Enhancers	Left Ventricle	heart
25	chr12:106214200-106216400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:106214200-106216800	Enhancers	NH-A	brain
27	chr12:106214400-106216000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:106214400-106216800	Enhancers	HSMMtube	muscle
29	chr12:106214400-106218600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:106214600-106215600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr12:106214600-106215800	Enhancers	Fetal Thymus	thymus
32	chr12:106214600-106216200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:106214800-106215800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:106214800-106215800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:106214800-106219000	Weak transcription	Brain Anterior Caudate	brain
36	chr12:106215000-106217800	Weak transcription	HMEC	breast
37	chr12:106215200-106215800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:106215200-106218200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:106215200-106218800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:106215400-106215800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr12:106215400-106215800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:106215400-106215800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:106215400-106216000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:106215400-106216200	Enhancers	Right Ventricle	heart
45	chr12:106215400-106217000	Enhancers	Fetal Lung	lung
46	chr12:106215400-106217000	Enhancers	Fetal Muscle Leg	muscle
47	chr12:106215400-106217000	Enhancers	Fetal Stomach	stomach

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