Variant report

Variant	rs1967338
Chromosome Location	chr12:66563103-66563104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:66561525..66563608-chr12:66580703..66583177,2	K562	blood:
2	chr12:66523792..66527078-chr12:66561013..66565049,6	MCF-7	breast:
3	chr12:66562782..66564453-chr5:148959450..148961318,2	MCF-7	breast:
4	chr12:8088335..8089100-chr12:66562765..66563519,2	Hela-S3	cervix:
5	chr12:66530596..66534894-chr12:66562580..66565717,4	K562	blood:
6	chr12:66563056..66564656-chr12:66694946..66697705,2	MCF-7	breast:
7	chr12:66523081..66526604-chr12:66560988..66564576,8	MCF-7	breast:
8	chr12:66521057..66526734-chr12:66560807..66565257,7	K562	blood:
9	chr12:66562960..66564544-chr12:66668918..66671534,2	MCF-7	breast:
10	chr12:66563062..66563911-chr17:57914982..57915916,2	Hela-S3	cervix:
11	chr12:66562904..66563889-chr8:42948511..42949040,2	Hela-S3	cervix:
12	chr12:66561184..66563224-chr12:66629023..66631827,2	MCF-7	breast:
13	chr10:88125321..88128301-chr12:66562414..66564569,2	K562	blood:
14	chr12:66563014..66563591-chr9:19379979..19380656,2	HCT-116	colon:
15	chr12:66523453..66525027-chr12:66562451..66564555,2	K562	blood:
16	chr1:11967859..11968598-chr12:66563035..66563806,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000182771	Chromatin interaction
ENSG00000256777	Chromatin interaction
ENSG00000239335	Chromatin interaction
ENSG00000127311	Chromatin interaction
ENSG00000155957	Chromatin interaction
ENSG00000266539	Chromatin interaction
ENSG00000139233	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000090376	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000185900	Chromatin interaction
ENSG00000059804	Chromatin interaction
ENSG00000183111	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11176069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11465939	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11465961	0.85[EUR][1000 genomes]
rs11465965	0.85[EUR][1000 genomes]
rs1168743	1.00[ASN][1000 genomes]
rs11836532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297278	1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311209	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097817	0.85[AMR][1000 genomes]
rs17102063	0.85[AMR][1000 genomes]
rs17102065	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102070	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102071	0.85[AMR][1000 genomes]
rs17102075	0.85[AMR][1000 genomes]
rs17102107	1.00[EUR][1000 genomes]
rs17102243	0.85[EUR][1000 genomes]
rs17767394	0.85[EUR][1000 genomes]
rs1797411	1.00[ASN][1000 genomes]
rs1921081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34557475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61387333	1.00[EUR][1000 genomes]
rs726302	1.00[CEU][hapmap]
rs7307195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960539	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7963270	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66561600-66564400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:66562000-66564200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:66562000-66564400	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:66562000-66564400	Active TSS	GM12878-XiMat	blood
5	chr12:66562000-66564400	Active TSS	HSMMtube	muscle
6	chr12:66562200-66563200	Flanking Active TSS	NH-A	brain
7	chr12:66562200-66564200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:66562200-66564400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:66562200-66564400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:66562200-66564400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:66562200-66564400	Active TSS	NHLF	lung
12	chr12:66562200-66564800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:66562400-66564000	Active TSS	Fetal Muscle Trunk	muscle
14	chr12:66562400-66564200	Active TSS	Right Ventricle	heart
15	chr12:66562400-66564400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:66562400-66564400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr12:66562400-66564400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:66562400-66564400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:66562400-66564400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:66562400-66564400	Active TSS	Brain Germinal Matrix	brain
21	chr12:66562400-66564400	Active TSS	Colonic Mucosa	Colon
22	chr12:66562400-66564400	Active TSS	HSMM	muscle
23	chr12:66562400-66564400	Active TSS	K562	blood
24	chr12:66562400-66564600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:66562600-66563200	Active TSS	HepG2	liver
26	chr12:66562600-66564000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:66562600-66564000	Active TSS	Fetal Thymus	thymus
28	chr12:66562600-66564000	Active TSS	Placenta Amnion	Placenta Amnion
29	chr12:66562600-66564200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:66562600-66564200	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr12:66562600-66564200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr12:66562600-66564200	Active TSS	Pancreas	Pancrea
33	chr12:66562600-66564200	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr12:66562600-66564200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr12:66562600-66564200	Active TSS	Stomach Mucosa	stomach
36	chr12:66562600-66564200	Active TSS	HMEC	breast
37	chr12:66562600-66564400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:66562600-66564400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:66562600-66564400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:66562600-66564400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:66562600-66564400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr12:66562600-66564400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr12:66562600-66564400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:66562600-66564400	Active TSS	Aorta	Aorta
45	chr12:66562600-66564400	Active TSS	Brain Angular Gyrus	brain
46	chr12:66562600-66564400	Active TSS	Brain Anterior Caudate	brain
47	chr12:66562600-66564400	Active TSS	Brain Hippocampus Middle	brain
48	chr12:66562600-66564400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:66562600-66564400	Active TSS	Brain Substantia Nigra	brain
50	chr12:66562600-66564400	Active TSS	Colon Smooth Muscle	Colon

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