Variant report

Variant	rs7954085
Chromosome Location	chr12:117536292-117536293
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	ELF1	chr12:117535865-117536432	MCF-7	breast:	n/a	chr12:117536127-117536140 chr12:117536367-117536376
2	ZNF143	chr12:117535936-117537501	K562	blood:	n/a	chr12:117536549-117536559 chr12:117536321-117536339
3	ZNF143	chr12:117535950-117537765	GM12878	blood:	n/a	chr12:117536549-117536559 chr12:117536321-117536339
4	YY1	chr12:117536147-117536495	ECC-1	luminal epithelium:	n/a	chr12:117536382-117536396 chr12:117536320-117536330
5	YY1	chr12:117536008-117536517	K562	blood:	n/a	chr12:117536382-117536396 chr12:117536320-117536330
6	POLR2A	chr12:117535992-117537439	HL-60	blood:	n/a	n/a
7	POLR2A	chr12:117535982-117537621	GM12878	blood:	n/a	n/a
8	ELF1	chr12:117535908-117536323	A549	lung:	n/a	chr12:117536127-117536140
9	TCF7L2	chr12:117536246-117537416	HCT-116	colon:	n/a	n/a
10	RCOR1	chr12:117535894-117537466	K562	blood:	n/a	n/a
11	TCF3	chr12:117536024-117536396	GM12878	blood:	n/a	n/a
12	SIN3A	chr12:117535998-117536908	H1-hESC	embryonic stem cell:	n/a	chr12:117536264-117536278
13	ELF1	chr12:117535856-117536367	HepG2	liver:	n/a	chr12:117536127-117536140
14	YY1	chr12:117536111-117537465	HepG2	liver:	n/a	chr12:117536382-117536396 chr12:117536546-117536560 chr12:117536320-117536330
15	ELF1	chr12:117535846-117536376	K562	blood:	n/a	chr12:117536127-117536140 chr12:117536367-117536376
16	TBL1XR1	chr12:117535813-117536350	K562	blood:	n/a	n/a
17	POLR2A	chr12:117536068-117537852	GM12892	blood:	n/a	n/a
18	CTBP2	chr12:117536258-117537546	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr12:117535995-117536359	GM12878	blood:	n/a	n/a
20	HCFC1	chr12:117536276-117536847	K562	blood:	n/a	n/a
21	ZNF143	chr12:117535921-117537505	H1-hESC	embryonic stem cell:	n/a	chr12:117536549-117536559 chr12:117536321-117536339
22	ELF1	chr12:117535906-117536491	K562	blood:	n/a	chr12:117536459-117536471 chr12:117536127-117536140 chr12:117536367-117536376
23	TBL1XR1	chr12:117536106-117536509	GM12878	blood:	n/a	n/a
24	YY1	chr12:117536170-117536525	GM12878	blood:	n/a	chr12:117536382-117536396 chr12:117536320-117536330
25	CBX3	chr12:117536292-117536981	K562	blood:	n/a	n/a
26	MAX	chr12:117535844-117537797	HepG2	liver:	n/a	chr12:117537696-117537705 chr12:117537696-117537705 chr12:117537695-117537706 chr12:117536781-117536791 chr12:117537695-117537705 chr12:117536757-117536767 chr12:117537696-117537705
27	MAFK	chr12:117536239-117536439	K562	blood:	n/a	n/a
28	CCNT2	chr12:117536198-117537456	K562	blood:	n/a	n/a
29	EBF1	chr12:117536139-117536830	GM12878	blood:	n/a	n/a
30	MAX	chr12:117535873-117537831	A549	lung:	n/a	chr12:117537696-117537705 chr12:117537696-117537705 chr12:117537695-117537706 chr12:117536781-117536791 chr12:117537695-117537705 chr12:117536757-117536767 chr12:117537696-117537705
31	HMGN3	chr12:117536141-117537455	K562	blood:	n/a	n/a
32	YY1	chr12:117536165-117536489	H1-hESC	embryonic stem cell:	n/a	chr12:117536382-117536396 chr12:117536320-117536330
33	MAX	chr12:117536111-117537807	K562	blood:	n/a	chr12:117537696-117537705 chr12:117537696-117537705 chr12:117537695-117537706 chr12:117536781-117536791 chr12:117537695-117537705 chr12:117536757-117536767 chr12:117537696-117537705
34	YY1	chr12:117536054-117536562	H1-hESC	embryonic stem cell:	n/a	chr12:117536382-117536396 chr12:117536546-117536560 chr12:117536320-117536330
35	RCOR1	chr12:117535950-117537624	K562	blood:	n/a	n/a
36	POLR2A	chr12:117536086-117537887	GM12892	blood:	n/a	n/a
37	YY1	chr12:117536171-117536450	A549	lung:	n/a	chr12:117536382-117536396 chr12:117536320-117536330
38	POLR2A	chr12:117536290-117536297	GM12878	blood:	n/a	n/a
39	ELF1	chr12:117535909-117537703	GM12878	blood:	n/a	chr12:117536459-117536471 chr12:117536547-117536559 chr12:117536127-117536140 chr12:117536367-117536376
40	MAX	chr12:117536024-117537803	A549	lung:	n/a	chr12:117537696-117537705 chr12:117537696-117537705 chr12:117537695-117537706 chr12:117536781-117536791 chr12:117537695-117537705 chr12:117536757-117536767 chr12:117537696-117537705
41	ELF1	chr12:117535921-117536309	A549	lung:	n/a	chr12:117536127-117536140
42	YY1	chr12:117536174-117536429	K562	blood:	n/a	chr12:117536382-117536396 chr12:117536320-117536330
43	RCOR1	chr12:117535986-117537074	HepG2	liver:	n/a	n/a
44	POLR2A	chr12:117535770-117537524	PBDE	blood:	n/a	n/a
45	POLR2A	chr12:117536160-117537536	GM15510	blood:	n/a	n/a
46	TCF12	chr12:117535774-117536377	A549	lung:	n/a	chr12:117536194-117536201
47	UBTF	chr12:117536277-117537323	K562	blood:	n/a	n/a
48	MAZ	chr12:117536215-117537775	GM12878	blood:	n/a	chr12:117537696-117537705 chr12:117537696-117537705 chr12:117537695-117537706 chr12:117536781-117536791 chr12:117537695-117537705 chr12:117536757-117536767 chr12:117537696-117537705
49	YY1	chr12:117536119-117536696	GM12892	blood:	n/a	chr12:117536382-117536396 chr12:117536546-117536560 chr12:117536320-117536330

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO21-2	chr12:117536198-117536460	NONHSAT030979

Variant related genes	Relation type
ENSG00000258285	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61600841	0.96[ASN][1000 genomes]
rs7133141	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73408547	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7962894	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7963062	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117534400-117536800	Flanking Active TSS	Dnd41	blood
2	chr12:117534600-117537400	Active TSS	Brain Anterior Caudate	brain
3	chr12:117534800-117537600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr12:117535200-117536400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:117535400-117536800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:117535400-117537200	Active TSS	Pancreas	Pancrea
7	chr12:117535400-117537400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:117535400-117537400	Active TSS	Left Ventricle	heart
9	chr12:117535600-117537400	Active TSS	Stomach Mucosa	stomach
10	chr12:117535600-117537400	Active TSS	GM12878-XiMat	blood
11	chr12:117535800-117536400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
12	chr12:117535800-117536400	Flanking Active TSS	K562	blood
13	chr12:117535800-117536600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr12:117535800-117536600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:117535800-117536600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr12:117535800-117536600	Bivalent/Poised TSS	Fetal Lung	lung
17	chr12:117535800-117536800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr12:117535800-117536800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr12:117535800-117537000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
20	chr12:117535800-117537000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr12:117535800-117537200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr12:117535800-117537400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
23	chr12:117535800-117537400	Active TSS	Gastric	stomach
24	chr12:117535800-117537600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:117535800-117537800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:117535800-117537800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:117536000-117536400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr12:117536000-117536400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr12:117536000-117536400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
30	chr12:117536000-117536400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr12:117536000-117536600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
32	chr12:117536000-117536600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:117536000-117536600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:117536000-117536600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:117536000-117536600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
36	chr12:117536000-117536600	Active TSS	Lung	lung
37	chr12:117536000-117536600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr12:117536000-117536800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
39	chr12:117536000-117536800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr12:117536000-117536800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
41	chr12:117536000-117536800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
42	chr12:117536000-117536800	Bivalent/Poised TSS	HepG2	liver
43	chr12:117536000-117537000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:117536000-117537000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:117536000-117537000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr12:117536000-117537000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr12:117536000-117537000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr12:117536000-117537000	Flanking Bivalent TSS/Enh	Placenta	Placenta
49	chr12:117536000-117537000	Active TSS	Right Atrium	heart
50	chr12:117536000-117537400	Active TSS	Primary hematopoietic stem cells short term culture	blood

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