Variant report

Variant	rs73224338
Chromosome Location	chr12:121367012-121367013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121358334..121360953-chr12:121366600..121368597,2	MCF-7	breast:
2	chr12:121362910..121365338-chr12:121366492..121368266,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11537856	1.00[AFR][1000 genomes]
rs12313339	1.00[ASN][1000 genomes]
rs1696360	1.00[ASN][1000 genomes]
rs1971317	1.00[ASN][1000 genomes]
rs2393795	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213547	1.00[AFR][1000 genomes]
rs34325588	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs41279100	1.00[AFR][1000 genomes]
rs55645249	1.00[ASN][1000 genomes]
rs55660034	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55811663	1.00[AFR][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55919842	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55961602	1.00[AFR][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs56046951	0.83[AFR][1000 genomes]
rs56132398	1.00[AFR][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	1.00[ASN][1000 genomes]
rs56189047	1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56280478	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56298275	1.00[AFR][1000 genomes]
rs56357425	1.00[AFR][1000 genomes]
rs56360386	1.00[AFR][1000 genomes]
rs56391085	1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	1.00[ASN][1000 genomes]
rs73214128	1.00[AFR][1000 genomes]
rs73214130	1.00[AFR][1000 genomes]
rs73214134	1.00[AFR][1000 genomes]
rs73214136	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214141	0.83[AFR][1000 genomes]
rs73214143	1.00[AFR][1000 genomes]
rs73214162	1.00[ASN][1000 genomes]
rs73214163	1.00[ASN][1000 genomes]
rs73214191	1.00[ASN][1000 genomes]
rs73214885	1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73217009	1.00[ASN][1000 genomes]
rs73217017	1.00[ASN][1000 genomes]
rs73222694	1.00[ASN][1000 genomes]
rs73222699	1.00[ASN][1000 genomes]
rs73224303	1.00[ASN][1000 genomes]
rs73224309	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224313	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224318	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224321	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224323	1.00[ASN][1000 genomes]
rs73224324	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224334	1.00[ASN][1000 genomes]
rs73224335	1.00[ASN][1000 genomes]
rs73224340	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73224341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226258	1.00[ASN][1000 genomes]
rs73226260	1.00[ASN][1000 genomes]
rs73226262	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73226263	1.00[AFR][1000 genomes]
rs73226267	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73226270	1.00[ASN][1000 genomes]
rs73226273	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73226274	1.00[ASN][1000 genomes]
rs73226287	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73226288	1.00[ASN][1000 genomes]
rs73226292	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227016	1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	1.00[ASN][1000 genomes]
rs73227027	1.00[ASN][1000 genomes]
rs73227029	1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	1.00[ASN][1000 genomes]
rs73227038	1.00[ASN][1000 genomes]
rs73229118	1.00[ASN][1000 genomes]
rs73229126	1.00[ASN][1000 genomes]
rs73229149	1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[ASN][1000 genomes]
rs73229160	1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs959400	1.00[ASN][1000 genomes]
rs9919745	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1838192	chr12:121363589-121402932	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3421916	chr12:121364119-121367217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3370922	chr12:121364594-121367142	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3330617	chr12:121364669-121367367	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3422373	chr12:121365194-121367742	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121364400-121374000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:121366600-121367200	Flanking Active TSS	HMEC	breast
3	chr12:121366600-121367400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:121366600-121367400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:121366600-121367400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:121366600-121367400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:121366600-121367400	Enhancers	Pancreas	Pancrea
8	chr12:121366600-121367600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:121366600-121367600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:121366600-121367600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:121366600-121367600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:121366600-121367600	Enhancers	Placenta	Placenta
13	chr12:121366600-121367600	Flanking Active TSS	NHEK	skin
14	chr12:121366800-121367200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:121366800-121367200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:121366800-121367200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:121366800-121367200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:121366800-121367400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:121366800-121367400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr12:121366800-121367400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:121366800-121367400	Active TSS	Colonic Mucosa	Colon
22	chr12:121366800-121367400	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:121366800-121367400	Flanking Active TSS	HepG2	liver
24	chr12:121366800-121368000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:121367000-121367200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:121367000-121367200	Enhancers	Esophagus	oesophagus
27	chr12:121367000-121367200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr12:121367000-121367600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:121367000-121368600	Weak transcription	Fetal Thymus	thymus
30	chr12:121367000-121370800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:121367000-121374800	Weak transcription	Fetal Intestine Small	intestine

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