Variant report

Variant	rs12032791
Chromosome Location	chr1:153765681-153765682
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153763846..153765824-chr1:153774129..153777112,2	MCF-7	breast:
2	chr1:153764439..153766738-chr1:153770528..153772998,3	K562	blood:
3	chr1:153764458..153766239-chr1:153894173..153897068,2	K562	blood:
4	chr1:153747124..153749409-chr1:153765103..153767331,2	MCF-7	breast:
5	chr1:153765340..153768610-chr1:153963132..153965319,3	K562	blood:
6	chr1:153764949..153767946-chr1:153918589..153920254,2	MCF-7	breast:
7	chr1:153758281..153760333-chr1:153763925..153766016,2	K562	blood:
8	chr1:153756292..153758003-chr1:153762929..153766093,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143554	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000207039	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11264446	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12071117	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12564199	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs16835600	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4128790	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4845573	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845584	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[EUR][1000 genomes]
rs59459240	0.92[EUR][1000 genomes]
rs60341318	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60382526	0.80[EUR][1000 genomes]
rs6666957	0.88[EUR][1000 genomes]
rs6676863	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[EUR][1000 genomes]
rs6693773	0.92[EUR][1000 genomes]
rs72042190	0.92[EUR][1000 genomes]
rs7415816	1.00[CEU][hapmap];0.93[CHB][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
4	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv464039	chr1:153708906-153801098	Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv547941	chr1:153708906-153801098	Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription 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	45 gene(s)	inside rSNPs	diseases
7	nsv817392	chr1:153724807-153870005	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv515962	chr1:153752139-153773429	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153756600-153767000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:153757000-153779200	Weak transcription	Dnd41	blood
3	chr1:153762400-153776600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:153762600-153777600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:153762600-153777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:153762600-153779600	Weak transcription	Gastric	stomach
7	chr1:153762600-153779600	Weak transcription	Pancreas	Pancrea
8	chr1:153762800-153766000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:153762800-153766600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:153763000-153765800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:153763000-153767600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:153763400-153772000	Weak transcription	Lung	lung
13	chr1:153763600-153765800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:153763600-153771600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:153763600-153772000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:153763600-153776800	Weak transcription	Right Atrium	heart
17	chr1:153763600-153777800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:153763600-153780000	Weak transcription	Aorta	Aorta
19	chr1:153763600-153780000	Weak transcription	Ovary	ovary
20	chr1:153763600-153780800	Weak transcription	Colonic Mucosa	Colon
21	chr1:153763800-153767400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:153763800-153773200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:153763800-153779400	Weak transcription	Brain Substantia Nigra	brain
24	chr1:153764000-153766000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:153764000-153768400	Weak transcription	Primary T cells from cord blood	blood
26	chr1:153764000-153777000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:153764000-153777800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:153764000-153779600	Weak transcription	Brain Angular Gyrus	brain
29	chr1:153764400-153766600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:153764400-153766600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:153764400-153767000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:153764400-153767200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:153764400-153768000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:153764400-153768000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:153764400-153768000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:153764400-153768800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:153764400-153768800	Weak transcription	Liver	Liver
38	chr1:153764400-153769000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:153764400-153769600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:153764400-153772200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:153764400-153774000	Weak transcription	Osteobl	bone
42	chr1:153764400-153776000	Weak transcription	HSMMtube	muscle
43	chr1:153764400-153777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:153764400-153777600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:153764400-153778200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:153764400-153779600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:153764600-153766200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:153764600-153767200	Weak transcription	Fetal Lung	lung
49	chr1:153764600-153769400	Weak transcription	Fetal Thymus	thymus
50	chr1:153764600-153776000	Weak transcription	Muscle Satellite Cultured Cells	--

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