Variant report

Variant	rs73230342
Chromosome Location	chr12:121037076-121037077
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	USF1	chr12:121036956-121037344	ECC-1	luminal epithelium:	n/a	chr12:121037162-121037173
2	JUND	chr12:121037020-121037299	Hela-S3	cervix:	n/a	chr12:121037129-121037140
3	USF1	chr12:121036896-121037299	A549	lung:	n/a	chr12:121037162-121037173
4	MAX	chr12:121037037-121037236	HepG2	liver:	n/a	n/a
5	MAX	chr12:121036779-121037331	HepG2	liver:	n/a	chr12:121036971-121036978
6	USF1	chr12:121037060-121037233	SK-N-SH_RA	brain:	n/a	chr12:121037162-121037173
7	USF1	chr12:121037034-121037242	HepG2	liver:	n/a	chr12:121037162-121037173
8	USF1	chr12:121037023-121037192	GM12878	blood:	n/a	chr12:121037162-121037173
9	MAX	chr12:121036707-121037356	A549	lung:	n/a	chr12:121036971-121036978
10	FOSL2	chr12:121036970-121037291	A549	lung:	n/a	n/a
11	USF1	chr12:121037065-121037241	A549	lung:	n/a	chr12:121037162-121037173
12	USF1	chr12:121036966-121037242	A549	lung:	n/a	chr12:121037162-121037173
13	MAX	chr12:121036978-121037266	Hela-S3	cervix:	n/a	n/a
14	USF1	chr12:121037004-121037316	H1-hESC	embryonic stem cell:	n/a	chr12:121037162-121037173
15	JUND	chr12:121036922-121037338	A549	lung:	n/a	chr12:121037129-121037140 chr12:121036947-121036958
16	BHLHE40	chr12:121036958-121037314	K562	blood:	n/a	n/a
17	FOS	chr12:121036986-121037301	HUVEC	blood vessel:	n/a	chr12:121037129-121037140
18	USF1	chr12:121036955-121037345	A549	lung:	n/a	chr12:121037162-121037173
19	MAX	chr12:121036785-121037318	K562	blood:	n/a	chr12:121036971-121036978
20	USF2	chr12:121037047-121037296	GM12878	blood:	n/a	chr12:121037162-121037173 chr12:121037124-121037135
21	RCOR1	chr12:121036962-121037104	K562	blood:	n/a	n/a
22	USF2	chr12:121037038-121037205	HepG2	liver:	n/a	chr12:121037162-121037173 chr12:121037124-121037135
23	USF1	chr12:121036913-121037272	K562	blood:	n/a	chr12:121037162-121037173
24	FOSL2	chr12:121036782-121037382	A549	lung:	n/a	chr12:121036787-121036795 chr12:121036947-121036958
25	MYC	chr12:121036961-121037271	MCF10A-Er-Src	breast:	n/a	chr12:121036971-121036978
26	USF1	chr12:121036951-121037269	H1-hESC	embryonic stem cell:	n/a	chr12:121037162-121037173
27	USF1	chr12:121036838-121037434	HCT-116	colon:	n/a	chr12:121037162-121037173
28	JUND	chr12:121036935-121037301	K562	blood:	n/a	chr12:121037129-121037140 chr12:121036947-121036958
29	FOS	chr12:121036963-121037309	MCF10A-Er-Src	breast:	n/a	chr12:121037129-121037140
30	MAX	chr12:121036805-121037341	NB4	blood:	n/a	chr12:121036971-121036978
31	USF2	chr12:121036996-121037346	Hela-S3	cervix:	n/a	chr12:121037162-121037173 chr12:121037124-121037135
32	FOS	chr12:121036982-121037303	MCF10A-Er-Src	breast:	n/a	chr12:121037129-121037140
33	FOS	chr12:121036990-121037321	MCF10A-Er-Src	breast:	n/a	chr12:121037129-121037140
34	USF1	chr12:121036970-121037332	K562	blood:	n/a	chr12:121037162-121037173
35	JUND	chr12:121036972-121037294	HepG2	liver:	n/a	chr12:121037129-121037140
36	USF1	chr12:121036926-121037366	ECC-1	luminal epithelium:	n/a	chr12:121037162-121037173
37	JUN	chr12:121036735-121037504	K562	blood:	n/a	chr12:121036787-121036795 chr12:121036947-121036958
38	EBF1	chr12:121037072-121037083	GM12878	blood:	n/a	n/a
39	USF1	chr12:121036852-121037472	HCT-116	colon:	n/a	chr12:121037162-121037173
40	MAX	chr12:121036961-121037315	K562	blood:	n/a	chr12:121036971-121036978
41	USF1	chr12:121036928-121037366	SK-N-SH	brain:	n/a	chr12:121037162-121037173
42	FOS	chr12:121036959-121037310	MCF10A-Er-Src	breast:	n/a	chr12:121037129-121037140
43	MYC	chr12:121037069-121037220	K562	blood:	n/a	n/a
44	USF1	chr12:121037033-121037287	HepG2	liver:	n/a	chr12:121037162-121037173
45	USF1	chr12:121037007-121037299	SK-N-SH_RA	brain:	n/a	chr12:121037162-121037173
46	PRDM1	chr12:121036896-121037373	Hela-S3	cervix:	n/a	chr12:121037146-121037161
47	FOSL2	chr12:121036907-121037281	HepG2	liver:	n/a	chr12:121036947-121036958

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121035601..121037513-chr12:121037577..121039226,2	MCF-7	breast:

Variant related genes	Relation type
RPL11P5	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11548264	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12315013	0.82[AMR][1000 genomes]
rs14017	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16950287	1.00[ASN][1000 genomes]
rs17431357	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17431446	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17487385	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509145	1.00[ASN][1000 genomes]
rs17584461	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221341	1.00[ASN][1000 genomes]
rs73221346	1.00[ASN][1000 genomes]
rs73221358	1.00[ASN][1000 genomes]
rs73221362	1.00[ASN][1000 genomes]
rs73221363	1.00[ASN][1000 genomes]
rs73221368	1.00[ASN][1000 genomes]
rs73221372	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73221373	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73221378	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73221380	1.00[ASN][1000 genomes]
rs73221381	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73221382	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73223295	1.00[ASN][1000 genomes]
rs73223296	1.00[ASN][1000 genomes]
rs73225208	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225213	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225218	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225219	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225225	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225229	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225238	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225245	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225248	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230303	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230305	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230306	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230308	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230314	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230318	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73230322	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230328	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230332	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230336	1.00[ASN][1000 genomes]
rs73230337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121030200-121037200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:121035400-121038200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:121035800-121038400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:121036400-121037400	Enhancers	Duodenum Mucosa	Duodenum
5	chr12:121036400-121038000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:121036400-121038000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:121036400-121041000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:121036600-121037200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:121036600-121037200	Enhancers	Left Ventricle	heart
10	chr12:121036600-121037200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:121036600-121037200	Bivalent Enhancer	NHDF-Ad	bronchial
12	chr12:121036600-121037400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:121036600-121037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:121036600-121037400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr12:121036600-121037400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:121036600-121037400	Enhancers	A549	lung
17	chr12:121036600-121037400	Flanking Active TSS	Hela-S3	cervix
18	chr12:121036600-121037400	Enhancers	K562	blood
19	chr12:121036600-121037600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:121036600-121038000	Enhancers	Fetal Kidney	kidney
21	chr12:121036600-121038000	Enhancers	Stomach Mucosa	stomach
22	chr12:121036600-121039000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:121036600-121039000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:121036600-121039400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:121036800-121037200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:121036800-121037200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:121036800-121037200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:121036800-121037200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:121036800-121037200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:121036800-121037200	Enhancers	Esophagus	oesophagus
31	chr12:121036800-121037200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:121036800-121037200	Enhancers	HMEC	breast
33	chr12:121036800-121037400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:121036800-121037400	Enhancers	Pancreas	Pancrea
35	chr12:121036800-121037400	Enhancers	Spleen	Spleen
36	chr12:121036800-121037400	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr12:121036800-121037400	Enhancers	HSMMtube	muscle
38	chr12:121036800-121038400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:121036800-121038800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr12:121036800-121039200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:121037000-121037200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:121037000-121037200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:121037000-121037200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:121037000-121037200	Enhancers	Right Atrium	heart
45	chr12:121037000-121037200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr12:121037000-121037800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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