Variant report

Variant	rs73197542
Chromosome Location	chr12:106751270-106751271
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	MAFK	chr12:106751083-106752555	Hela-S3	cervix:	n/a	n/a
2	MAX	chr12:106751211-106752526	SK-N-SH	brain:	n/a	n/a
3	HCFC1	chr12:106750814-106752948	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr12:106751159-106752825	K562	blood:	n/a	n/a
5	GTF2F1	chr12:106751254-106752550	Hela-S3	cervix:	n/a	n/a
6	GATA3	chr12:106751150-106752747	A549	lung:	n/a	chr12:106752353-106752365 chr12:106752351-106752367 chr12:106752353-106752360 chr12:106752345-106752361
7	FOSL2	chr12:106751121-106752529	A549	lung:	n/a	n/a
8	NRF1	chr12:106751256-106752071	GM12878	blood:	n/a	chr12:106751867-106751878 chr12:106751901-106751910 chr12:106751846-106751860 chr12:106751830-106751841 chr12:106751849-106751863 chr12:106751849-106751860 chr12:106751830-106751844 chr12:106751613-106751622 chr12:106751829-106751840 chr12:106751830-106751839 chr12:106751832-106751841 chr12:106751849-106751860 chr12:106751827-106751841
9	GABPA	chr12:106751172-106752094	HL-60	blood:	n/a	chr12:106751901-106751910 chr12:106751846-106751860 chr12:106751830-106751841 chr12:106751849-106751863 chr12:106751849-106751860 chr12:106751830-106751844 chr12:106751613-106751622 chr12:106751830-106751839 chr12:106751832-106751841 chr12:106751827-106751841
10	CHD2	chr12:106751261-106751805	H1-hESC	embryonic stem cell:	n/a	n/a
11	STAT3	chr12:106751067-106752088	GM12878	blood:	n/a	n/a
12	JUND	chr12:106751245-106752813	K562	blood:	n/a	n/a
13	CTCF	chr12:106751177-106751671	T-47D	breast:	n/a	chr12:106751436-106751446 chr12:106751433-106751454 chr12:106751432-106751448
14	USF1	chr12:106751269-106751678	A549	lung:	n/a	n/a
15	ETS1	chr12:106751245-106751806	A549	lung:	n/a	n/a
16	MAX	chr12:106751191-106752575	HepG2	liver:	n/a	n/a
17	E2F4	chr12:106751145-106751963	MCF10A-Er-Src	breast:	n/a	chr12:106751613-106751622 chr12:106751831-106751840 chr12:106751810-106751819
18	GATA3	chr12:106751219-106751699	T-47D	breast:	n/a	n/a
19	CTCF	chr12:106751165-106751824	IMR90	lung:	n/a	chr12:106751436-106751446 chr12:106751433-106751454 chr12:106751432-106751448
20	MAX	chr12:106751113-106752706	A549	lung:	n/a	n/a
21	ELF1	chr12:106751205-106751883	SK-N-SH	brain:	n/a	chr12:106751635-106751648 chr12:106751470-106751481 chr12:106751470-106751481
22	POLR2A	chr12:106751203-106753095	GM12891	blood:	n/a	n/a
23	TAF1	chr12:106751236-106752353	ECC-1	luminal epithelium:	n/a	n/a
24	TAF1	chr12:106751246-106752125	H1-neurons	neurons:	n/a	n/a
25	EP300	chr12:106751264-106751614	SK-N-SH_RA	brain:	n/a	n/a
26	POLR2A	chr12:106751261-106752226	H1-hESC	embryonic stem cell:	n/a	n/a
27	BCL3	chr12:106751145-106752141	A549	lung:	n/a	chr12:106751616-106751625 chr12:106751942-106751955 chr12:106751929-106751937
28	CTCF	chr12:106751221-106751621	ECC-1	luminal epithelium:	n/a	chr12:106751436-106751446 chr12:106751433-106751454 chr12:106751432-106751448
29	SIN3AK20	chr12:106751245-106752221	PANC-1	pancreas:	n/a	n/a
30	NR2F2	chr12:106751226-106751734	K562	blood:	n/a	n/a
31	ZMIZ1	chr12:106751227-106752754	K562	blood:	n/a	n/a
32	PML	chr12:106751202-106752694	K562	blood:	n/a	n/a
33	RUNX3	chr12:106751140-106752238	GM12878	blood:	n/a	n/a
34	ATF2	chr12:106751232-106752134	GM12878	blood:	n/a	n/a
35	TCF12	chr12:106751141-106751932	A549	lung:	n/a	n/a
36	RCOR1	chr12:106751206-106752564	Hela-S3	cervix:	n/a	n/a
37	ZNF143	chr12:106751042-106752756	K562	blood:	n/a	n/a
38	RAD21	chr12:106751248-106751597	SK-N-SH_RA	brain:	n/a	chr12:106751436-106751445
39	MAX	chr12:106751244-106752573	NB4	blood:	n/a	n/a
40	ARID3A	chr12:106751129-106751739	K562	blood:	n/a	n/a
41	RAD21	chr12:106751213-106751645	Hela-S3	cervix:	n/a	chr12:106751436-106751445
42	PML	chr12:106751254-106752482	MCF-7	breast:	n/a	n/a
43	BCLAF1	chr12:106751164-106751742	GM12878	blood:	n/a	chr12:106751616-106751625
44	GABPA	chr12:106751156-106752086	A549	lung:	n/a	chr12:106751901-106751910 chr12:106751846-106751860 chr12:106751830-106751841 chr12:106751849-106751863 chr12:106751849-106751860 chr12:106751830-106751844 chr12:106751613-106751622 chr12:106751830-106751839 chr12:106751832-106751841 chr12:106751827-106751841
45	CTCF	chr12:106751220-106752568	K562	blood:	n/a	chr12:106751436-106751446 chr12:106751433-106751454 chr12:106751432-106751448
46	ZBTB33	chr12:106751265-106751899	A549	lung:	n/a	n/a
47	MAFK	chr12:106751261-106752601	K562	blood:	n/a	n/a
48	FOXM1	chr12:106751148-106751908	GM12878	blood:	n/a	n/a
49	ELF1	chr12:106751218-106752149	A549	lung:	n/a	chr12:106751635-106751648 chr12:106751470-106751481 chr12:106751470-106751481
50	CBX3	chr12:106751200-106751682	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:106749203..106751877-chr12:107263250..107266129,2	MCF-7	breast:
2	chr12:89745765..89746362-chr12:106751184..106751739,2	HCT-116	colon:
3	chr12:106694726..106698780-chr12:106749876..106753760,9	K562	blood:
4	chr12:106693946..106698218-chr12:106750404..106754111,7	MCF-7	breast:
5	chr12:106749890..106753405-chr12:107348464..107352140,5	MCF-7	breast:
6	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
7	chr12:106532785..106534884-chr12:106750299..106753050,2	MCF-7	breast:
8	chr12:106640021..106643402-chr12:106749618..106753030,5	MCF-7	breast:
9	chr12:46776676..46779494-chr12:106750626..106752443,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP4-1	chr12:106750752-106751719	NONHSAT030481

Variant related genes	Relation type
POLR3B	TF binding region
ENSG00000258355	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000074590	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000111785	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000151135	Chromatin interaction
ENSG00000139318	Chromatin interaction
ENSG00000260329	Chromatin interaction

rs_ID	r²[population]
rs11831101	0.86[AMR][1000 genomes]
rs11831881	0.86[AMR][1000 genomes]
rs11833143	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12300331	0.82[AMR][1000 genomes]
rs56349708	0.84[EUR][1000 genomes]
rs58491322	0.86[AMR][1000 genomes]
rs59245113	0.86[AMR][1000 genomes]
rs73186446	0.91[AMR][1000 genomes]
rs73186466	0.86[AMR][1000 genomes]
rs73186467	0.86[AMR][1000 genomes]
rs73186470	1.00[AFR][1000 genomes]
rs73186479	1.00[AFR][1000 genomes]
rs73197526	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73197527	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73197529	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73197531	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73197533	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73197535	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73197538	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106736200-106751400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:106740400-106751400	Weak transcription	Esophagus	oesophagus
3	chr12:106740400-106751400	Weak transcription	Lung	lung
4	chr12:106740400-106751400	Weak transcription	Spleen	Spleen
5	chr12:106740600-106751400	Weak transcription	Left Ventricle	heart
6	chr12:106750800-106751400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:106750800-106751400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:106750800-106751400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:106750800-106751400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:106750800-106752200	Active TSS	HMEC	breast
11	chr12:106751000-106751400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:106751000-106751400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:106751000-106751400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:106751000-106751400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:106751000-106751400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr12:106751000-106751400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr12:106751000-106751400	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr12:106751000-106751400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:106751000-106751400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr12:106751000-106751400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr12:106751000-106751400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:106751000-106751400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr12:106751000-106751400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:106751000-106751400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr12:106751000-106751400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:106751000-106751400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:106751000-106751400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:106751000-106751400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:106751000-106751400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:106751000-106751400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr12:106751000-106751400	Flanking Active TSS	Liver	Liver
32	chr12:106751000-106751400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr12:106751000-106751400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr12:106751000-106751400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr12:106751000-106751400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:106751000-106751400	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr12:106751000-106751400	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr12:106751000-106751400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr12:106751000-106751400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr12:106751000-106751400	Flanking Active TSS	Fetal Brain Female	brain
41	chr12:106751000-106751400	Flanking Active TSS	Fetal Kidney	kidney
42	chr12:106751000-106751400	Flanking Active TSS	Fetal Lung	lung
43	chr12:106751000-106751400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:106751000-106751400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr12:106751000-106751400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr12:106751000-106751400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr12:106751000-106751400	Flanking Active TSS	Dnd41	blood
48	chr12:106751000-106751400	Flanking Active TSS	GM12878-XiMat	blood
49	chr12:106751000-106751400	Flanking Active TSS	Hela-S3	cervix
50	chr12:106751000-106751400	Flanking Active TSS	HepG2	liver

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