Variant report

Variant	rs73408547
Chromosome Location	chr12:117537400-117537401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr12:117535936-117537501	K562	blood:	n/a	chr12:117536549-117536559 chr12:117536321-117536339
2	TAF1	chr12:117536991-117537403	HepG2	liver:	n/a	n/a
3	ZNF143	chr12:117535950-117537765	GM12878	blood:	n/a	chr12:117536549-117536559 chr12:117536321-117536339
4	MAX	chr12:117536777-117537532	ECC-1	luminal epithelium:	n/a	chr12:117536781-117536791
5	FOSL1	chr12:117537004-117537431	K562	blood:	n/a	n/a
6	FOSL1	chr12:117536927-117537613	HCT-116	colon:	n/a	n/a
7	TBL1XR1	chr12:117537149-117537556	K562	blood:	n/a	n/a
8	POLR2A	chr12:117536993-117537414	Raji	blood:	n/a	n/a
9	CREB1	chr12:117536934-117537613	HepG2	liver:	n/a	n/a
10	RCOR1	chr12:117537275-117537413	HepG2	liver:	n/a	n/a
11	SIN3A	chr12:117537178-117537429	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr12:117537102-117537845	GM12878	blood:	n/a	chr12:117537695-117537704 chr12:117537697-117537706
13	ZBTB7A	chr12:117537246-117537490	HepG2	liver:	n/a	n/a
14	EP300	chr12:117537094-117537659	GM12878	blood:	n/a	n/a
15	EP300	chr12:117537201-117537691	GM12878	blood:	n/a	n/a
16	MAZ	chr12:117536382-117537620	K562	blood:	n/a	chr12:117536781-117536791 chr12:117536757-117536767
17	MAX	chr12:117536964-117537488	MCF-7	breast:	n/a	n/a
18	TBP	chr12:117537131-117537428	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP1	chr12:117536960-117537571	A549	lung:	n/a	chr12:117537464-117537474
20	ELK1	chr12:117537177-117537461	GM12878	blood:	n/a	n/a
21	TCF3	chr12:117537019-117537572	GM12878	blood:	n/a	chr12:117537445-117537454 chr12:117537419-117537433 chr12:117537443-117537457 chr12:117537422-117537431
22	SIN3AK20	chr12:117537064-117537400	K562	blood:	n/a	n/a
23	TBP	chr12:117536330-117537646	K562	blood:	n/a	n/a
24	POLR2A	chr12:117535992-117537439	HL-60	blood:	n/a	n/a
25	ELF1	chr12:117537087-117537467	HepG2	liver:	n/a	n/a
26	E2F6	chr12:117536461-117537847	K562	blood:	n/a	chr12:117537290-117537297 chr12:117536542-117536552 chr12:117537290-117537297 chr12:117536635-117536650 chr12:117537290-117537297
27	ZBTB7A	chr12:117537038-117537584	K562	blood:	n/a	n/a
28	POLR2A	chr12:117535982-117537621	GM12878	blood:	n/a	n/a
29	RUNX3	chr12:117537067-117537837	GM12878	blood:	n/a	n/a
30	BHLHE40	chr12:117537131-117537424	K562	blood:	n/a	n/a
31	NR2F2	chr12:117537094-117537591	K562	blood:	n/a	n/a
32	TCF7L2	chr12:117536246-117537416	HCT-116	colon:	n/a	n/a
33	RCOR1	chr12:117535894-117537466	K562	blood:	n/a	n/a
34	CBX3	chr12:117537062-117537402	K562	blood:	n/a	n/a
35	HEY1	chr12:117536952-117537421	HepG2	liver:	n/a	n/a
36	ZBTB7A	chr12:117537080-117537697	ECC-1	luminal epithelium:	n/a	n/a
37	HDAC2	chr12:117536670-117537515	MCF-7	breast:	n/a	n/a
38	CREB1	chr12:117536997-117537479	A549	lung:	n/a	n/a
39	FOSL1	chr12:117536925-117537504	H1-hESC	embryonic stem cell:	n/a	n/a
40	SMARCB1	chr12:117536308-117537471	Hela-S3	cervix:	n/a	n/a
41	EBF1	chr12:117537223-117537744	GM12878	blood:	n/a	n/a
42	YY1	chr12:117536111-117537465	HepG2	liver:	n/a	chr12:117536382-117536396 chr12:117536546-117536560 chr12:117536320-117536330
43	POLR2A	chr12:117536881-117537444	GM12878	blood:	n/a	n/a
44	TCF12	chr12:117536638-117537558	A549	lung:	n/a	n/a
45	YY1	chr12:117536979-117537499	GM12892	blood:	n/a	n/a
46	PAX5	chr12:117536386-117537468	GM12892	blood:	n/a	chr12:117536678-117536687
47	POLR2A	chr12:117537030-117537742	GM12892	blood:	n/a	n/a
48	POLR2A	chr12:117536068-117537852	GM12892	blood:	n/a	n/a
49	CTBP2	chr12:117536258-117537546	H1-hESC	embryonic stem cell:	n/a	n/a
50	HCFC1	chr12:117537169-117537553	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117537384-117537434	ECC-1	luminal epithelium:	n/a
2	chr12:117537384-117537434	AG04450	lung:	fetal
3	chr12:117537384-117537434	HRCEpiC	kidney:	n/a
4	chr12:117537384-117537434	HepG2	liver:	n/a
5	chr12:117537384-117537434	GM12891	blood:	n/a
6	chr12:117537384-117537434	Hepatocyte	liver:	n/a
7	chr12:117537384-117537434	AG10803	skin:	n/a
8	chr12:117537384-117537434	HNPCEpiC	eye:	n/a
9	chr12:117537384-117537434	HMEC	breast:	n/a
10	chr12:117537384-117537434	HEK293	kidney:	embryo
11	chr12:117537384-117537434	PANC-1	pancreas:	n/a
12	chr12:117537384-117537434	GM12892	blood:	n/a
13	chr12:117537384-117537434	U87	brain:	n/a
14	chr12:117537384-117537434	MCF10A-Er-Src	breast:	n/a
15	chr12:117537384-117537434	A549	lung:	n/a
16	chr12:117537384-117537434	GM12878	blood:	n/a
17	chr12:117537384-117537434	NHDF-neo	bronchial:	n/a
18	chr12:117537384-117537434	NB4	blood:	n/a
19	chr12:117537384-117537434	T-47D	breast:	n/a
20	chr12:117537384-117537434	NH-A	brain:	n/a
21	chr12:117537384-117537434	Hela-S3	cervix:	n/a
22	chr12:117537384-117537434	HCPEpiC	choroid plexus:	n/a
23	chr12:117537384-117537434	SK-N-SH_RA	brain:	n/a
24	chr12:117537384-117537434	H1-hESC	embryonic stem cell:	embryo
25	chr12:117537384-117537434	AoSMC	blood vessel:	n/a
26	chr12:117537384-117537434	HIPEpiC	eye:	n/a
27	chr12:117537384-117537434	SK-N-SH	brain:	n/a
28	chr12:117537384-117537434	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:117537384-117537434	AG04449	skin:	fetal
30	chr12:117537384-117537434	AG09319	gingival:	n/a
31	chr12:117537384-117537434	AG09309	skin:	n/a
32	chr12:117537384-117537434	MCF-7	breast:	n/a
33	chr12:117537384-117537434	BJ	skin:	n/a
34	chr12:117537384-117537434	ovcar-3	ovarian:	n/a
35	chr12:117537384-117537434	HCT-116	colon:	n/a
36	chr12:117537384-117537434	SAEC	small airway:	n/a
37	chr12:117537384-117537434	ProgFib	skin:	n/a
38	chr12:117537384-117537434	SKMC	muscle:	n/a
39	chr12:117537384-117537434	HCM	heart:	n/a
40	chr12:117537384-117537434	HUVEC	blood vessel:	n/a
41	chr12:117537384-117537434	BE2_C	brain:	n/a
42	chr12:117537384-117537434	RPTEC	kidney:	n/a
43	chr12:117537384-117537434	HRE	kidney:	n/a
44	chr12:117537384-117537434	GM19239	blood:	n/a
45	chr12:117537384-117537434	CMK	blood:	n/a
46	chr12:117537384-117537434	SK-N-MC	brain:	n/a
47	chr12:117537384-117537434	NHBE	bronchial:	n/a
48	chr12:117537384-117537434	HL-60	blood:	n/a
49	chr12:117537384-117537434	HEEpiC	esophagus:	n/a
50	chr12:117537384-117537434	HCF	heart:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:110433787..110434387-chr12:117536596..117537566,2	NB4	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXW8-1	chr12:117537286-117537449	ENSG00000258285
2	lnc-FBXW8-1	chr12:117537254-117537449	NONHSAT030981
3	lnc-FBXW8-1	chr12:117537041-117537449	NONHSAT030980

No data

Variant related genes	Relation type
TESC	TF binding region
TESC	CpG island
ENSG00000139436	Chromatin interaction

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

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

rs_ID	r²[population]
rs61600841	1.00[ASN][1000 genomes]
rs7133141	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954085	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];0.98[ASN][1000 genomes]
rs7963062	0.80[AMR][1000 genomes];0.96[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:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117534600-117537400	Active TSS	Brain Anterior Caudate	brain
2	chr12:117534800-117537600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:117535400-117537400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:117535400-117537400	Active TSS	Left Ventricle	heart
5	chr12:117535600-117537400	Active TSS	Stomach Mucosa	stomach
6	chr12:117535600-117537400	Active TSS	GM12878-XiMat	blood
7	chr12:117535800-117537400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr12:117535800-117537400	Active TSS	Gastric	stomach
9	chr12:117535800-117537600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:117535800-117537800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:117535800-117537800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:117536000-117537400	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:117536000-117537400	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr12:117536000-117537400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:117536000-117537400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr12:117536000-117537400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
17	chr12:117536000-117537600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:117536000-117537800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:117536000-117537800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr12:117536000-117537800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:117536000-117537800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:117536200-117537400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr12:117536200-117537400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:117536200-117537400	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr12:117536200-117537400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr12:117536200-117537400	Bivalent Enhancer	Fetal Brain Male	brain
27	chr12:117536200-117537400	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr12:117536200-117537400	Active TSS	A549	lung
29	chr12:117536200-117537400	Bivalent/Poised TSS	HSMM	muscle
30	chr12:117536200-117537600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr12:117536200-117537600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:117536200-117537600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:117536200-117537600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
34	chr12:117536200-117537600	Active TSS	Right Ventricle	heart
35	chr12:117536200-117537600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
36	chr12:117536400-117537400	Active TSS	Spleen	Spleen
37	chr12:117536400-117537400	Flanking Bivalent TSS/Enh	HMEC	breast
38	chr12:117536400-117537400	Active TSS	K562	blood
39	chr12:117536400-117537400	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:117536400-117537600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr12:117536400-117537600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:117536400-117537600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:117536400-117537600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:117536400-117537600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:117536400-117537600	Active TSS	Brain Angular Gyrus	brain
46	chr12:117536400-117537800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:117536600-117537400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:117536600-117537400	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr12:117536600-117537400	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr12:117536600-117537400	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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