Variant report

Variant	rs12307814
Chromosome Location	chr12:60103822-60103823
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49658095..49659753-chr12:60101910..60104297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10083171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11173122	1.00[AMR][1000 genomes]
rs11173143	1.00[AMR][1000 genomes]
rs11173184	0.80[AFR][1000 genomes]
rs12296752	1.00[AMR][1000 genomes]
rs12298625	1.00[AMR][1000 genomes]
rs12300147	1.00[AMR][1000 genomes]
rs12301125	1.00[AMR][1000 genomes]
rs12306274	1.00[AMR][1000 genomes]
rs12307037	1.00[AMR][1000 genomes]
rs12310666	1.00[AMR][1000 genomes]
rs12315372	1.00[AMR][1000 genomes]
rs12316277	1.00[AMR][1000 genomes]
rs12317862	1.00[AMR][1000 genomes]
rs12318588	1.00[AMR][1000 genomes]
rs12321806	1.00[AMR][1000 genomes]
rs12322903	1.00[AMR][1000 genomes]
rs13377681	1.00[AMR][1000 genomes]
rs74094088	1.00[AMR][1000 genomes]
rs74094089	1.00[AMR][1000 genomes]
rs74094091	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2829972	chr12:60079404-60111653	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3487719	chr12:60102271-60104083	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3487708	chr12:60102318-60104060	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3487697	chr12:60102342-60104056	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv18397	chr12:60102386-60104047	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3487731	chr12:60102391-60104035	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60069600-60131400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:60086200-60105200	Weak transcription	Aorta	Aorta
3	chr12:60086200-60106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:60087600-60108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:60089400-60126000	Weak transcription	Left Ventricle	heart
6	chr12:60093800-60107400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:60093800-60108800	Weak transcription	Ovary	ovary
8	chr12:60093800-60109800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:60093800-60126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:60094000-60127200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:60094200-60107200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:60094200-60127200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:60094600-60104400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:60095400-60114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:60096200-60104800	Weak transcription	Fetal Thymus	thymus
16	chr12:60096800-60105400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:60097200-60109600	Weak transcription	Dnd41	blood
18	chr12:60098000-60117000	Weak transcription	Psoas Muscle	Psoas
19	chr12:60098600-60109000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:60099200-60107600	Weak transcription	Hela-S3	cervix
21	chr12:60099200-60109200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:60099200-60126600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:60099400-60130400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:60099600-60143200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:60100400-60104600	Weak transcription	Esophagus	oesophagus
27	chr12:60100400-60126400	Weak transcription	Primary B cells from cord blood	blood
28	chr12:60100600-60127200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:60101600-60108800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:60101800-60122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:60102400-60109400	Strong transcription	Primary T cells from cord blood	blood
32	chr12:60102600-60105800	Weak transcription	NHDF-Ad	bronchial
33	chr12:60102600-60111000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:60102800-60104800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:60103400-60104000	Genic enhancers	Adipose Nuclei	Adipose
36	chr12:60103400-60105000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:60103400-60111600	Weak transcription	GM12878-XiMat	blood
38	chr12:60103600-60104200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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