Variant report

Variant	rs34658242
Chromosome Location	chr12:119619000-119619001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:119618359-119619116	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr12:119616192-119619283	IMR90	lung:	n/a	n/a
3	TBP	chr12:119618339-119619061	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:119616221-119620115	IMR90	lung:	n/a	n/a
5	STAT1	chr12:119617275-119619198	Hela-S3	cervix:	n/a	n/a
6	MAX	chr12:119618129-119619017	MCF-7	breast:	n/a	chr12:119618730-119618737 chr12:119618728-119618738 chr12:119618728-119618739 chr12:119618720-119618736 chr12:119618729-119618738 chr12:119618727-119618742 chr12:119618729-119618738
7	MAFK	chr12:119617397-119619074	Hela-S3	cervix:	n/a	chr12:119617683-119617693
8	SMARCC1	chr12:119616249-119619015	Hela-S3	cervix:	n/a	n/a
9	SIN3A	chr12:119618589-119619065	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr12:119618370-119619025	Hela-S3	cervix:	n/a	n/a
11	KAP1	chr12:119616239-119619041	HEK293	kidney:	n/a	n/a
12	USF1	chr12:119618630-119619140	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF2	chr12:119617434-119619190	Hela-S3	cervix:	n/a	chr12:119618727-119618738
14	MAX	chr12:119618193-119619068	Hela-S3	cervix:	n/a	chr12:119618730-119618737 chr12:119618728-119618738 chr12:119618728-119618739 chr12:119618720-119618736 chr12:119618729-119618738 chr12:119618727-119618742 chr12:119618729-119618738
15	MAX	chr12:119618181-119619084	Hela-S3	cervix:	n/a	chr12:119618730-119618737 chr12:119618728-119618738 chr12:119618728-119618739 chr12:119618720-119618736 chr12:119618729-119618738 chr12:119618727-119618742 chr12:119618729-119618738

No.	Distal block	Cell Line	Cell type
1	chr12:119411792..119414282-chr12:119618328..119620117,2	MCF-7	breast:
2	chr12:119618981..119622944-chr12:119623767..119626992,5	MCF-7	breast:
3	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:
4	chr12:119551723..119553234-chr12:119616700..119619134,2	MCF-7	breast:
5	chr12:119553688..119557524-chr12:119615179..119619342,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256884	TF binding region
ENSG00000152137	Chromatin interaction
ENSG00000257095	Chromatin interaction
ENSG00000139767	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11064685	0.87[EUR][1000 genomes]
rs11064694	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064695	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064699	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064701	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11064704	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12227588	0.87[EUR][1000 genomes]
rs12811848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812680	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34109560	0.83[EUR][1000 genomes]
rs34168259	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34689026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35911573	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36005387	0.81[EUR][1000 genomes]
rs3782919	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66886955	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67681082	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68062239	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68067444	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303637	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304005	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213443	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73213444	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975529	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9634173	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119616200-119619200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:119616200-119621000	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:119616400-119620800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:119616400-119622200	Active TSS	Right Atrium	heart
5	chr12:119616400-119623000	Active TSS	Colon Smooth Muscle	Colon
6	chr12:119616600-119619000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:119616600-119619000	Active TSS	Ovary	ovary
8	chr12:119616600-119619200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:119616600-119619200	Active TSS	Colonic Mucosa	Colon
10	chr12:119616600-119619800	Active TSS	Lung	lung
11	chr12:119616600-119619800	Flanking Active TSS	NH-A	brain
12	chr12:119616600-119620000	Active TSS	Brain Angular Gyrus	brain
13	chr12:119616600-119620200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr12:119616600-119620200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:119616600-119620600	Active TSS	Left Ventricle	heart
16	chr12:119616600-119621000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr12:119616600-119621000	Active TSS	Psoas Muscle	Psoas
18	chr12:119616600-119622400	Active TSS	Aorta	Aorta
19	chr12:119616600-119622600	Active TSS	Right Ventricle	heart
20	chr12:119616800-119619000	Flanking Active TSS	HUVEC	blood vessel
21	chr12:119616800-119619200	Flanking Active TSS	Hela-S3	cervix
22	chr12:119616800-119620000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:119616800-119620200	Active TSS	Brain Substantia Nigra	brain
24	chr12:119617000-119619000	Active TSS	Fetal Thymus	thymus
25	chr12:119617000-119620000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:119617000-119620600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
27	chr12:119617000-119622600	Active TSS	Brain Anterior Caudate	brain
28	chr12:119617200-119619000	Enhancers	NHEK	skin
29	chr12:119617200-119619800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:119617200-119620000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:119617200-119620200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr12:119617400-119619200	Active TSS	Pancreas	Pancrea
33	chr12:119617400-119620000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:119617400-119621000	Active TSS	Brain Cingulate Gyrus	brain
35	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:119617600-119619600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:119617600-119621800	Active TSS	Brain Hippocampus Middle	brain
38	chr12:119617800-119619000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:119617800-119619200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr12:119617800-119620000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:119617800-119620000	Flanking Active TSS	Fetal Heart	heart
42	chr12:119617800-119620000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
43	chr12:119618000-119619200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:119618200-119619000	Active TSS	Fetal Brain Male	brain
45	chr12:119618200-119619800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:119618400-119619000	Active TSS	Fetal Intestine Small	intestine
47	chr12:119618400-119620200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:119618400-119621000	Active TSS	HSMMtube	muscle
49	chr12:119618400-119621200	Active TSS	Esophagus	oesophagus
50	chr12:119618400-119624000	Weak transcription	Spleen	Spleen

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