Variant report

Variant	rs12299751
Chromosome Location	chr12:50154508-50154509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50145939..50150220-chr12:50153962..50160201,9	K562	blood:
2	chr12:50133826..50140112-chr12:50153972..50158501,10	K562	blood:
3	chr12:50142620..50145126-chr12:50154373..50156902,2	MCF-7	breast:
4	chr12:50141258..50143607-chr12:50154074..50155843,2	K562	blood:

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10128824	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169123	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297814	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299743	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300962	1.00[AMR][1000 genomes]
rs12306951	1.00[AMR][1000 genomes]
rs12310580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313681	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314036	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315508	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317162	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1317263	1.00[AMR][1000 genomes]
rs17119738	1.00[AMR][1000 genomes]
rs17123787	1.00[AMR][1000 genomes]
rs17123827	1.00[AMR][1000 genomes]
rs17123879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804867	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805090	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50145000-50156000	Strong transcription	Dnd41	blood
2	chr12:50145000-50157000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:50145000-50159200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:50145800-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50146000-50157000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr12:50146000-50159000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50146000-50159000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:50146000-50159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:50146200-50155200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:50146200-50155800	Strong transcription	Primary T cells from cord blood	blood
11	chr12:50146200-50156000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:50146200-50156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:50146200-50159000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:50146200-50159000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:50146200-50159000	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr12:50146200-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:50146200-50159200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:50146200-50159200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:50146200-50159200	Strong transcription	Placenta	Placenta
20	chr12:50146400-50155000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:50146400-50155000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:50146400-50155000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:50146400-50155200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:50146400-50156200	Strong transcription	HUVEC	blood vessel
25	chr12:50146400-50158200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:50146400-50158400	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:50146400-50158400	Strong transcription	Fetal Lung	lung
28	chr12:50146400-50158400	Strong transcription	Ovary	ovary
29	chr12:50146400-50159000	Strong transcription	Brain Germinal Matrix	brain
30	chr12:50146400-50159200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:50146400-50159200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr12:50146400-50159400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:50146400-50159400	Strong transcription	Fetal Brain Female	brain
34	chr12:50146400-50159600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:50146400-50159800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:50146600-50155000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:50146600-50155200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:50146600-50156200	Strong transcription	Thymus	Thymus
39	chr12:50146600-50157000	Strong transcription	Adipose Nuclei	Adipose
40	chr12:50146600-50158200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr12:50146600-50158400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:50146600-50159000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:50146600-50159000	Strong transcription	Colonic Mucosa	Colon
44	chr12:50146600-50159200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:50146600-50160000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:50146600-50160800	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:50146600-50160800	Strong transcription	Fetal Stomach	stomach
48	chr12:50146800-50158000	Strong transcription	Lung	lung
49	chr12:50146800-50158200	Strong transcription	Rectal Smooth Muscle	rectum
50	chr12:50146800-50159000	Strong transcription	Aorta	Aorta

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