Variant report

Variant	rs4767457
Chromosome Location	chr12:117258093-117258094
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117257077..117258858-chr12:117263780..117265959,2	K562	blood:
2	chr12:117245789..117252962-chr12:117254340..117258603,11	K562	blood:
3	chr12:117249993..117252950-chr12:117255244..117258293,4	MCF-7	breast:
4	chr12:117255625..117260515-chr12:117260953..117265280,7	K562	blood:
5	chr12:117251777..117254967-chr12:117255465..117258181,5	MCF-7	breast:
6	chr12:117256194..117258778-chr12:117314042..117315845,3	MCF-7	breast:
7	chr12:117255957..117259131-chr12:117261216..117264613,4	MCF-7	breast:
8	chr12:117206430..117208950-chr12:117256822..117258508,2	MCF-7	breast:
9	chr12:117256689..117258680-chr12:117270250..117272345,2	MCF-7	breast:

No data

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10735097	1.00[CEU][hapmap]
rs10735098	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10774888	0.91[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs10774889	1.00[CEU][hapmap]
rs10774890	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10850718	0.83[ASN][1000 genomes]
rs10850719	0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs10850720	0.81[EUR][1000 genomes]
rs10850721	0.90[ASN][1000 genomes]
rs12301988	0.90[ASN][1000 genomes]
rs1495933	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1603327	0.91[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2393107	1.00[CEU][hapmap]
rs4326894	0.93[EUR][1000 genomes]
rs4480639	0.89[EUR][1000 genomes]
rs4767458	1.00[CEU][hapmap]
rs4767460	0.88[CEU][hapmap]
rs6490093	0.89[CEU][hapmap]
rs7304747	0.80[CEU][hapmap]
rs7314211	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7315763	0.82[EUR][1000 genomes]
rs924072	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs924075	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs924078	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs924079	0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117256600-117258200	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr12:117256800-117258200	Active TSS	Brain Cingulate Gyrus	brain
3	chr12:117257000-117258200	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:117257200-117259000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:117257400-117258200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:117257400-117287200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:117257600-117258200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:117257600-117258200	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:117257600-117258200	Enhancers	Hela-S3	cervix
10	chr12:117257600-117258400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:117257600-117259000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:117257600-117272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:117257800-117258200	Enhancers	Primary B cells from cord blood	blood
14	chr12:117257800-117258200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr12:117257800-117258200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:117257800-117258200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr12:117257800-117258200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:117257800-117258200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:117257800-117258200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:117257800-117258200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:117257800-117258200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr12:117257800-117258200	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:117257800-117258200	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:117257800-117258200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:117257800-117258200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:117257800-117258200	Enhancers	Right Ventricle	heart
27	chr12:117257800-117258200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:117257800-117258600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:117257800-117259200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:117257800-117259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:117257800-117259400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:117257800-117259600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:117257800-117260000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:117257800-117260400	Enhancers	Fetal Thymus	thymus
35	chr12:117257800-117261600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:117257800-117262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:117257800-117262400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:117257800-117262600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:117257800-117262600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:117257800-117262800	Weak transcription	Brain Germinal Matrix	brain
41	chr12:117257800-117272800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:117257800-117273400	Weak transcription	Primary T cells from cord blood	blood
43	chr12:117257800-117273600	Weak transcription	Fetal Brain Female	brain
44	chr12:117257800-117276800	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:117258000-117258200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:117258000-117258200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:117258000-117258200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:117258000-117258200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:117258000-117258200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:117258000-117258200	Enhancers	Brain Anterior Caudate	brain

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