Variant report

Variant	rs11064693
Chromosome Location	chr12:119618699-119618700
allele	C/T
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	CTCF	chr12:119618680-119618830	AG04450	lung:	n/a	n/a
2	MXI1	chr12:119618359-119619116	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:119618571-119618729	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr12:119616192-119619283	IMR90	lung:	n/a	n/a
5	TBP	chr12:119618339-119619061	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:119616221-119620115	IMR90	lung:	n/a	n/a
7	STAT1	chr12:119617275-119619198	Hela-S3	cervix:	n/a	n/a
8	MAX	chr12:119618482-119618945	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
9	MAX	chr12:119618403-119618938	H1-hESC	embryonic stem cell:	n/a	chr12:119618730-119618737 chr12:119618728-119618738 chr12:119618728-119618739 chr12:119618720-119618736 chr12:119618729-119618738 chr12:119618727-119618742 chr12:119618729-119618738
10	CTCF	chr12:119618660-119618810	AG04449	skin:	n/a	n/a
11	USF1	chr12:119618592-119618922	H1-hESC	embryonic stem cell:	n/a	n/a
12	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
13	MAFK	chr12:119617117-119618870	IMR90	lung:	n/a	chr12:119617683-119617693
14	MYC	chr12:119618603-119618817	HUVEC	blood vessel:	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	chr12:119618603-119618801	K562	blood:	n/a	chr12:119618730-119618737 chr12:119618728-119618738 chr12:119618728-119618739 chr12:119618720-119618736 chr12:119618729-119618738 chr12:119618727-119618742 chr12:119618729-119618738
16	FOS	chr12:119618166-119618872	HUVEC	blood vessel:	n/a	chr12:119618353-119618364
17	RFX5	chr12:119618244-119618979	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr12:119618640-119618790	AG04449	skin:	n/a	n/a
19	MAFK	chr12:119617397-119619074	Hela-S3	cervix:	n/a	chr12:119617683-119617693
20	SMARCC1	chr12:119616249-119619015	Hela-S3	cervix:	n/a	n/a
21	SIN3A	chr12:119618589-119619065	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr12:119618370-119619025	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr12:119618600-119618750	HBMEC	blood vessel:	n/a	n/a
24	MAX	chr12:119618619-119618836	K562	blood:	n/a	chr12:119618730-119618737 chr12:119618728-119618738 chr12:119618728-119618739 chr12:119618720-119618736 chr12:119618729-119618738 chr12:119618727-119618742 chr12:119618729-119618738
25	MAX	chr12:119618312-119618791	A549	lung:	n/a	chr12:119618730-119618737 chr12:119618728-119618738 chr12:119618728-119618739 chr12:119618720-119618736 chr12:119618729-119618738 chr12:119618727-119618742 chr12:119618729-119618738
26	SMC3	chr12:119617392-119618941	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr12:119618611-119618722	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr12:119618459-119618786	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:119618645-119618918	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr12:119618565-119618914	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr12:119618520-119618892	Hela-S3	cervix:	n/a	n/a
32	MAX	chr12:119618631-119618971	H1-hESC	embryonic stem cell:	n/a	chr12:119618730-119618737 chr12:119618728-119618738 chr12:119618728-119618739 chr12:119618720-119618736 chr12:119618729-119618738 chr12:119618727-119618742 chr12:119618729-119618738
33	USF2	chr12:119618693-119618867	H1-hESC	embryonic stem cell:	n/a	chr12:119618727-119618738
34	KAP1	chr12:119616239-119619041	HEK293	kidney:	n/a	n/a
35	POLR2A	chr12:119618549-119618749	MCF10A-Er-Src	breast:	n/a	n/a
36	USF1	chr12:119618630-119619140	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr12:119617330-119618937	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr12:119618680-119618830	HPAF	blood vessel:	n/a	n/a
39	USF2	chr12:119617434-119619190	Hela-S3	cervix:	n/a	chr12:119618727-119618738
40	MYC	chr12:119618655-119618829	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
41	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
42	CTCF	chr12:119618660-119618810	HFF	foreskin:	n/a	n/a
43	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
44	MAX	chr12:119618536-119618883	H1-hESC	embryonic stem cell:	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	chr12:119616453..119622468-chr12:119623323..119627109,7	MCF-7	breast:
3	chr12:119551723..119553234-chr12:119616700..119619134,2	MCF-7	breast:
4	chr12:119553688..119557524-chr12:119615179..119619342,9	MCF-7	breast:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10849633	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064700	0.87[ASN][1000 genomes]
rs1133026	0.87[ASN][1000 genomes]
rs2278182	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6490243	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs722306	0.91[EUR][1000 genomes]
rs722307	0.91[EUR][1000 genomes]
rs7311047	0.80[ASN][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119616000-119618800	Flanking Active TSS	Fetal Muscle Leg	muscle
2	chr12:119616200-119618800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr12:119616200-119619200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr12:119616200-119621000	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:119616400-119620800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:119616400-119622200	Active TSS	Right Atrium	heart
7	chr12:119616400-119623000	Active TSS	Colon Smooth Muscle	Colon
8	chr12:119616600-119619000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:119616600-119619000	Active TSS	Ovary	ovary
10	chr12:119616600-119619200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:119616600-119619200	Active TSS	Colonic Mucosa	Colon
12	chr12:119616600-119619800	Active TSS	Lung	lung
13	chr12:119616600-119619800	Flanking Active TSS	NH-A	brain
14	chr12:119616600-119620000	Active TSS	Brain Angular Gyrus	brain
15	chr12:119616600-119620200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr12:119616600-119620200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:119616600-119620600	Active TSS	Left Ventricle	heart
18	chr12:119616600-119621000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr12:119616600-119621000	Active TSS	Psoas Muscle	Psoas
20	chr12:119616600-119622400	Active TSS	Aorta	Aorta
21	chr12:119616600-119622600	Active TSS	Right Ventricle	heart
22	chr12:119616800-119618800	Active TSS	Thymus	Thymus
23	chr12:119616800-119619000	Flanking Active TSS	HUVEC	blood vessel
24	chr12:119616800-119619200	Flanking Active TSS	Hela-S3	cervix
25	chr12:119616800-119620000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:119616800-119620200	Active TSS	Brain Substantia Nigra	brain
27	chr12:119617000-119619000	Active TSS	Fetal Thymus	thymus
28	chr12:119617000-119620000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:119617000-119620600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
30	chr12:119617000-119622600	Active TSS	Brain Anterior Caudate	brain
31	chr12:119617200-119619000	Enhancers	NHEK	skin
32	chr12:119617200-119619800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:119617200-119620000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:119617200-119620200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr12:119617400-119619200	Active TSS	Pancreas	Pancrea
36	chr12:119617400-119620000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:119617400-119621000	Active TSS	Brain Cingulate Gyrus	brain
38	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:119617600-119618800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:119617600-119618800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:119617600-119619600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:119617600-119621800	Active TSS	Brain Hippocampus Middle	brain
43	chr12:119617800-119618800	Flanking Active TSS	Fetal Stomach	stomach
44	chr12:119617800-119619000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:119617800-119619200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:119617800-119620000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr12:119617800-119620000	Flanking Active TSS	Fetal Heart	heart
48	chr12:119617800-119620000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
49	chr12:119618000-119618800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:119618000-119618800	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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