Variant report

Variant	rs12058806
Chromosome Location	chr1:151137232-151137233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:151137076-151139334	K562	blood:	n/a	chr1:151137861-151137870
2	CEBPB	chr1:151137163-151137857	MCF-7	breast:	n/a	chr1:151137395-151137408
3	MTA3	chr1:151137221-151139201	GM12878	blood:	n/a	n/a
4	CEBPB	chr1:151137212-151137694	IMR90	lung:	n/a	chr1:151137395-151137408
5	CEBPB	chr1:151137216-151137791	HepG2	liver:	n/a	chr1:151137395-151137408
6	CEBPB	chr1:151137229-151137627	HepG2	liver:	n/a	chr1:151137395-151137408
7	CEBPB	chr1:151137214-151137704	K562	blood:	n/a	chr1:151137395-151137408
8	CEBPB	chr1:151137192-151137562	K562	blood:	n/a	chr1:151137395-151137408
9	GATA3	chr1:151137211-151137602	T-47D	breast:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150979239..150982026-chr1:151136822..151140051,3	MCF-7	breast:
2	chr1:151017642..151020624-chr1:151136290..151137800,2	MCF-7	breast:
3	chr1:150550605..150553329-chr1:151136705..151138908,2	K562	blood:
4	chr1:151124206..151127003-chr1:151136189..151137837,2	MCF-7	breast:
5	chr1:150983476..150986465-chr1:151136618..151138245,2	MCF-7	breast:
6	chr1:151131080..151134028-chr1:151135601..151138206,6	K562	blood:
7	chr1:151136716..151140911-chr1:151168778..151172657,5	MCF-7	breast:
8	chr1:151040998..151044328-chr1:151135769..151140484,5	MCF-7	breast:
9	chr1:151029301..151033715-chr1:151136820..151141213,5	MCF-7	breast:
10	chr1:151136857..151140256-chr1:151168802..151172321,4	MCF-7	breast:
11	chr1:151020969..151022652-chr1:151136172..151138973,3	MCF-7	breast:
12	chr1:151136893..151140335-chr1:151160848..151164031,6	MCF-7	breast:
13	chr1:151117625..151120818-chr1:151135402..151140051,4	MCF-7	breast:
14	chr1:151136474..151139051-chr1:151252702..151254478,3	MCF-7	breast:
15	chr1:151127620..151129314-chr1:151136293..151138330,2	K562	blood:
16	chr1:150979986..150982538-chr1:151136841..151139170,3	K562	blood:
17	chr1:151029387..151032698-chr1:151136625..151139017,3	K562	blood:
18	chr1:151042255..151044217-chr1:151136884..151138558,2	MCF-7	breast:
19	chr1:151044680..151046429-chr1:151136336..151137837,2	K562	blood:
20	chr1:151106097..151107684-chr1:151136573..151139445,2	MCF-7	breast:

No data

Variant related genes	Relation type
SCNM1	TF binding region
ENSG00000143398	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000163141	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11204788	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204789	1.00[AMR][1000 genomes]
rs11204790	1.00[AMR][1000 genomes]
rs11204797	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204799	1.00[AMR][1000 genomes]
rs11204800	1.00[AMR][1000 genomes]
rs11204801	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204802	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204804	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12057875	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065050	1.00[AMR][1000 genomes]
rs12071605	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073695	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077026	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077958	1.00[ASW][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080668	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081338	0.82[AFR][1000 genomes]
rs12082248	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086389	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087802	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090291	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092749	1.00[AMR][1000 genomes]
rs12094954	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61751621	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661777	1.00[AMR][1000 genomes]
rs9887870	0.82[AFR][1000 genomes];1.00[AMR][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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers 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	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151131600-151137400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:151134200-151137600	Weak transcription	Lung	lung
3	chr1:151134400-151137400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:151134400-151137400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:151134400-151137400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:151134400-151137400	Weak transcription	Esophagus	oesophagus
7	chr1:151134400-151137400	Weak transcription	Pancreas	Pancrea
8	chr1:151134600-151137400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:151134600-151137400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:151135200-151137600	Weak transcription	Primary B cells from cord blood	blood
11	chr1:151135200-151137600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:151135600-151137600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:151135800-151137400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:151136000-151137600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:151136000-151137800	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr1:151136400-151137400	Genic enhancers	Primary T cells from cord blood	blood
17	chr1:151136600-151137400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:151136600-151137400	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:151136600-151137800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:151136600-151138000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:151136800-151137400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:151136800-151137400	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr1:151136800-151137400	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr1:151136800-151137400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr1:151136800-151137400	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr1:151136800-151137400	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr1:151136800-151137400	Enhancers	Placenta	Placenta
28	chr1:151136800-151137400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:151136800-151137400	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr1:151136800-151137400	Flanking Active TSS	NHDF-Ad	bronchial
31	chr1:151136800-151137600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:151136800-151137600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:151136800-151137600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:151136800-151137600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:151136800-151137600	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr1:151136800-151137600	Flanking Active TSS	Osteobl	bone
37	chr1:151136800-151137800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:151136800-151137800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:151136800-151137800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:151136800-151137800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:151136800-151137800	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr1:151136800-151137800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr1:151136800-151137800	Flanking Active TSS	Fetal Brain Male	brain
44	chr1:151136800-151137800	Flanking Active TSS	GM12878-XiMat	blood
45	chr1:151136800-151138000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:151136800-151138400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:151136800-151138400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:151137000-151137400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:151137000-151137400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:151137000-151137400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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