Variant report

Variant	rs947800
Chromosome Location	chr12:123582855-123582856
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123582057..123584351-chr12:123601284..123603250,2	MCF-7	breast:
2	chr12:123582480..123584039-chr12:123588807..123590369,2	K562	blood:
3	chr12:123582324..123585127-chr12:123595321..123597552,2	K562	blood:
4	chr12:123578771..123581154-chr12:123581766..123585014,3	MCF-7	breast:
5	chr12:123576053..123577573-chr12:123581249..123582928,2	MCF-7	breast:
6	chr12:123578797..123580896-chr12:123581116..123583111,2	K562	blood:
7	chr12:123557220..123559958-chr12:123582515..123585405,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11057167	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057171	1.00[AMR][1000 genomes]
rs11057173	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057182	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057186	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057239	1.00[CEU][hapmap]
rs11060406	1.00[AMR][1000 genomes]
rs11060703	0.95[EUR][1000 genomes]
rs11060762	1.00[YRI][hapmap]
rs11060765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11060942	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061613	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061615	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12368208	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12371718	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12372667	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2343106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844287	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36004829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4759359	1.00[YRI][hapmap]
rs484200	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347904	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs596940	0.80[CEU][hapmap]
rs61751326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7488814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947801	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
3	chr12:123562400-123586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:123567400-123588000	Enhancers	Left Ventricle	heart
5	chr12:123570800-123586600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123571000-123586600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
8	chr12:123573200-123584200	Enhancers	Liver	Liver
9	chr12:123574400-123586800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:123576400-123589400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:123576600-123588600	Enhancers	Right Ventricle	heart
12	chr12:123576800-123583200	Weak transcription	Primary B cells from cord blood	blood
13	chr12:123577000-123590400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:123577200-123584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:123577200-123586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:123577400-123589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:123577400-123590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123578000-123584400	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:123578200-123583000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:123578200-123583200	Enhancers	Colon Smooth Muscle	Colon
21	chr12:123578200-123584800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:123578200-123584800	Enhancers	Fetal Muscle Leg	muscle
23	chr12:123578600-123583000	Enhancers	Brain Angular Gyrus	brain
24	chr12:123578600-123583200	Enhancers	NHLF	lung
25	chr12:123578600-123583400	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:123578800-123583000	Enhancers	Rectal Smooth Muscle	rectum
27	chr12:123579400-123586200	Enhancers	Fetal Brain Female	brain
28	chr12:123579800-123584000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:123579800-123586600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:123579800-123586800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr12:123579800-123593600	Weak transcription	Fetal Intestine Large	intestine
32	chr12:123579800-123596200	Weak transcription	Osteobl	bone
33	chr12:123580000-123589400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:123580000-123589800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:123580000-123592600	Weak transcription	NHEK	skin
36	chr12:123580000-123593800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:123580200-123586600	Weak transcription	K562	blood
38	chr12:123580200-123587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:123580200-123587800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:123580200-123589600	Weak transcription	Spleen	Spleen
41	chr12:123580200-123589600	Weak transcription	HMEC	breast
42	chr12:123580200-123590200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:123580200-123593200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:123580400-123583600	Enhancers	HSMMtube	muscle
45	chr12:123580400-123586600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:123580600-123583000	Enhancers	Fetal Lung	lung
47	chr12:123580600-123583200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:123580600-123583200	Genic enhancers	Fetal Stomach	stomach
49	chr12:123580600-123596000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:123580800-123583600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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