Variant report

Variant	rs1144714
Chromosome Location	chr12:32261252-32261253
allele	G/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	POLR2A	chr12:32260397-32261730	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr12:32261111-32261275	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr12:32259428-32261252	K562	blood:	n/a	n/a
4	TBP	chr12:32260571-32261343	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr12:32258968-32261442	SK-N-SH	brain:	n/a	chr12:32259600-32259614 chr12:32259992-32260002 chr12:32260107-32260114 chr12:32259722-32259732
6	EGR1	chr12:32260306-32261316	HCT-116	colon:	n/a	chr12:32260709-32260722 chr12:32260711-32260721
7	RCOR1	chr12:32260313-32261319	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:32259145-32262099	IMR90	lung:	n/a	n/a
9	SIN3A	chr12:32259293-32261364	H1-hESC	embryonic stem cell:	n/a	chr12:32259978-32259989
10	RCOR1	chr12:32259120-32261463	K562	blood:	n/a	n/a
11	POLR2A	chr12:32260668-32261328	H1-neurons	neurons:	n/a	n/a
12	RAD21	chr12:32259402-32261362	IMR90	lung:	n/a	chr12:32259722-32259732 chr12:32259806-32259820 chr12:32260047-32260059 chr12:32259792-32259806 chr12:32259602-32259616 chr12:32259600-32259614
13	MYC	chr12:32260564-32261485	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:32259217-32261392	U87	brain:	n/a	n/a
15	E2F4	chr12:32260923-32261434	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:32259219-32261305	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr12:32259311-32261292	H1-neurons	neurons:	n/a	n/a
18	JUN	chr12:32258796-32262329	K562	blood:	n/a	n/a
19	CEBPB	chr12:32260459-32261264	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:32258687-32261345	A549	lung:	n/a	chr12:32259599-32259615 chr12:32259598-32259616 chr12:32259723-32259733 chr12:32259600-32259613 chr12:32259722-32259735
21	FOS	chr12:32260531-32261492	MCF10A-Er-Src	breast:	n/a	n/a
22	RCOR1	chr12:32258893-32261433	IMR90	lung:	n/a	n/a
23	CHD1	chr12:32260442-32261591	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr12:32260782-32261280	H1-neurons	neurons:	n/a	n/a
25	MXI1	chr12:32260847-32261351	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr12:32259006-32261350	K562	blood:	n/a	n/a
27	POLR2A	chr12:32260009-32261303	U87	brain:	n/a	n/a
28	STAT3	chr12:32260562-32261318	Hela-S3	cervix:	n/a	n/a
29	MAX	chr12:32259031-32261346	A549	lung:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
30	MAX	chr12:32259186-32261259	HCT-116	colon:	n/a	chr12:32259462-32259471 chr12:32259744-32259753
31	MXI1	chr12:32258712-32262487	SK-N-SH	brain:	n/a	chr12:32259312-32259321
32	REST	chr12:32259081-32262319	H1-neurons	neurons:	n/a	chr12:32259715-32259725
33	NFIC	chr12:32260461-32261414	SK-N-SH	brain:	n/a	n/a
34	KAP1	chr12:32260593-32261340	U2OS	brain:	n/a	n/a
35	POLR2A	chr12:32259223-32261273	U87	brain:	n/a	n/a
36	KAP1	chr12:32259697-32261289	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:32260676..32263344-chr12:32452464..32455287,2	MCF-7	breast:
2	chr12:32260677..32263592-chr12:32286494..32288195,2	MCF-7	breast:
3	chr12:32260649..32262291-chr12:32271936..32273601,2	MCF-7	breast:
4	chr12:31880708..31883036-chr12:32258362..32261321,3	K562	blood:
5	chr12:32260830..32263543-chr12:32269172..32271594,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257530	TF binding region
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1144713	0.98[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1144715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144718	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32258400-32261600	Active TSS	Brain Germinal Matrix	brain
2	chr12:32258800-32261400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:32258800-32262400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:32258800-32263000	Active TSS	Fetal Brain Female	brain
5	chr12:32259000-32261400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:32259000-32261600	Active TSS	Muscle Satellite Cultured Cells	--
7	chr12:32259000-32261600	Active TSS	Brain Angular Gyrus	brain
8	chr12:32259000-32261800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:32259000-32261800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:32259000-32261800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:32259000-32261800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:32259000-32261800	Active TSS	Thymus	Thymus
13	chr12:32259000-32261800	Active TSS	HSMM	muscle
14	chr12:32259000-32261800	Active TSS	HSMMtube	muscle
15	chr12:32259000-32261800	Active TSS	NHLF	lung
16	chr12:32259000-32262000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:32259000-32262000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:32259000-32262000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:32259000-32262400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:32259000-32262400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:32259000-32263200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr12:32259000-32263200	Active TSS	Ovary	ovary
23	chr12:32259200-32261400	Active TSS	NHDF-Ad	bronchial
24	chr12:32259200-32261600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:32259200-32261800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:32259200-32261800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr12:32259200-32261800	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:32259200-32261800	Active TSS	HMEC	breast
29	chr12:32259200-32262000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:32259200-32262200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:32259200-32262200	Active TSS	Aorta	Aorta
32	chr12:32259200-32262400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:32259200-32263400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:32259400-32261400	Active TSS	Right Ventricle	heart
35	chr12:32259400-32261400	Active TSS	NHEK	skin
36	chr12:32259400-32261800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:32259400-32261800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:32259400-32261800	Active TSS	A549	lung
39	chr12:32259400-32261800	Active TSS	Hela-S3	cervix
40	chr12:32259400-32261800	Active TSS	NH-A	brain
41	chr12:32259400-32261800	Active TSS	Osteobl	bone
42	chr12:32259400-32262000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:32259400-32262400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:32259400-32262400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:32259400-32263000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr12:32259400-32263000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:32259400-32263000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:32259600-32261800	Active TSS	GM12878-XiMat	blood
49	chr12:32260000-32261400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr12:32260000-32262200	Active TSS	Fetal Brain Male	brain

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