Variant report

Variant	rs10783997
Chromosome Location	chr12:60119478-60119479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49658530..49660065-chr12:60117351..60120020,2	MCF-7	breast:
2	chr12:60118954..60121545-chr2:160471632..160473698,2	MCF-7	breast:
3	chr12:60118809..60120952-chr12:60126355..60129129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000224152	Chromatin interaction
ENSG00000123636	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10877330	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877332	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877333	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877334	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877348	0.92[EUR][1000 genomes]
rs11173115	0.85[ASN][1000 genomes]
rs11173121	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11173138	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11173183	0.96[EUR][1000 genomes]
rs11173186	0.96[EUR][1000 genomes]
rs11611304	0.97[EUR][1000 genomes]
rs11611808	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581981	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17572569	0.98[EUR][1000 genomes]
rs17573052	0.97[EUR][1000 genomes]
rs17650140	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4323908	0.93[EUR][1000 genomes]
rs55863604	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55869967	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56053489	0.85[ASN][1000 genomes]
rs56410712	0.96[EUR][1000 genomes]
rs73111818	0.96[ASN][1000 genomes]
rs73113308	0.97[EUR][1000 genomes]
rs7972065	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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

No data

Chromatin state (count:21 , 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	chr12:60089400-60126000	Weak transcription	Left Ventricle	heart
3	chr12:60093800-60126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:60094000-60127200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:60094200-60127200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:60099200-60126600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:60099400-60130400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:60099600-60143200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:60100400-60126400	Weak transcription	Primary B cells from cord blood	blood
11	chr12:60100600-60127200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:60101800-60122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:60104200-60138000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:60105600-60129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:60109400-60121800	Weak transcription	Right Ventricle	heart
16	chr12:60109400-60126600	Weak transcription	Primary T cells from cord blood	blood
17	chr12:60110200-60141400	Weak transcription	Dnd41	blood
18	chr12:60112600-60126800	Weak transcription	Adipose Nuclei	Adipose
19	chr12:60113000-60143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:60117400-60120600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:60119400-60119800	Enhancers	NHDF-Ad	bronchial

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