Variant report

Variant	rs17443387
Chromosome Location	chr12:40620635-40620636
allele	A/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	SP1	chr12:40619962-40620942	A549	lung:	n/a	n/a
2	STAT3	chr12:40620438-40620808	MCF10A-Er-Src	breast:	n/a	chr12:40620581-40620590
3	CHD1	chr12:40617719-40620681	GM12878	blood:	n/a	chr12:40618748-40618758
4	FOS	chr12:40620407-40620807	MCF10A-Er-Src	breast:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590 chr12:40620579-40620590
5	RFX5	chr12:40620454-40620798	Hela-S3	cervix:	n/a	n/a
6	FOS	chr12:40620387-40620755	HUVEC	blood vessel:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590 chr12:40620579-40620590
7	RCOR1	chr12:40619571-40620834	GM12878	blood:	n/a	n/a
8	FOS	chr12:40620406-40620777	MCF10A-Er-Src	breast:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590 chr12:40620579-40620590
9	JUND	chr12:40620482-40620743	HepG2	liver:	n/a	chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590 chr12:40620579-40620590
10	STAT3	chr12:40620389-40620778	MCF10A-Er-Src	breast:	n/a	chr12:40620581-40620590
11	FOSL2	chr12:40620371-40620783	A549	lung:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590
12	POLR2A	chr12:40620137-40621088	PFSK-1	brain:	n/a	n/a
13	CREB1	chr12:40620485-40620823	A549	lung:	n/a	n/a
14	TAF1	chr12:40620500-40620788	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr12:40620618-40620785	A549	lung:	n/a	n/a
16	EBF1	chr12:40619613-40620945	GM12878	blood:	n/a	chr12:40620810-40620819
17	STAT3	chr12:40620438-40620806	MCF10A-Er-Src	breast:	n/a	chr12:40620581-40620590
18	JUN	chr12:40620422-40620800	HUVEC	blood vessel:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590
19	FOS	chr12:40620393-40620808	MCF10A-Er-Src	breast:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590 chr12:40620579-40620590
20	CHD2	chr12:40619992-40620786	GM12878	blood:	n/a	n/a
21	RELA	chr12:40619964-40621083	GM19099	blood:	n/a	n/a
22	POLR2A	chr12:40616780-40621231	GM18951	blood:	n/a	n/a
23	POLR2A	chr12:40617283-40620948	GM18526	blood:	n/a	n/a
24	JUND	chr12:40620460-40620918	A549	lung:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590 chr12:40620579-40620590
25	FOS	chr12:40620406-40620853	MCF10A-Er-Src	breast:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590 chr12:40620579-40620590
26	TBP	chr12:40619440-40620658	GM12878	blood:	n/a	n/a
27	SPI1	chr12:40619630-40620808	GM12878	blood:	n/a	chr12:40620179-40620188
28	TAL1	chr12:40620623-40620940	K562	blood:	n/a	chr12:40620774-40620792
29	REST	chr12:40619923-40620965	A549	lung:	n/a	n/a
30	TAF1	chr12:40620125-40620863	PFSK-1	brain:	n/a	n/a
31	FOSL2	chr12:40620451-40620852	SK-N-SH	brain:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590
32	FOSL2	chr12:40619929-40620993	A549	lung:	n/a	chr12:40620149-40620158 chr12:40620464-40620476 chr12:40620212-40620219 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590
33	BATF	chr12:40620474-40620707	GM12878	blood:	n/a	chr12:40620577-40620588
34	EGR1	chr12:40620577-40620834	K562	blood:	n/a	n/a
35	POLR2A	chr12:40620452-40621168	MCF10A-Er-Src	breast:	n/a	n/a
36	JUND	chr12:40620433-40620849	A549	lung:	n/a	chr12:40620464-40620476 chr12:40620581-40620590 chr12:40620580-40620590 chr12:40620580-40620590 chr12:40620579-40620590
37	POLR2A	chr12:40620610-40620635	A549	lung:	n/a	n/a
38	CREB1	chr12:40620379-40620792	A549	lung:	n/a	n/a
39	MAX	chr12:40620102-40620829	A549	lung:	n/a	n/a
40	POLR2A	chr12:40616564-40621335	GM19099	blood:	n/a	n/a
41	GATA2	chr12:40620109-40620840	HUVEC	blood vessel:	n/a	chr12:40620785-40620792 chr12:40620781-40620794 chr12:40620774-40620791
42	TCF12	chr12:40619934-40620982	A549	lung:	n/a	n/a
43	NR3C1	chr12:40620490-40620845	A549	lung:	n/a	n/a
44	POLR2A	chr12:40620479-40620961	PFSK-1	brain:	n/a	n/a
45	MXI1	chr12:40619871-40620851	GM12878	blood:	n/a	n/a
46	STAT3	chr12:40620374-40620798	MCF10A-Er-Src	breast:	n/a	chr12:40620581-40620590
47	MYC	chr12:40620327-40620748	MCF10A-Er-Src	breast:	n/a	n/a
48	NFIC	chr12:40619760-40620678	GM12878	blood:	n/a	n/a
49	MYC	chr12:40620458-40620731	MCF10A-Er-Src	breast:	n/a	n/a
50	USF2	chr12:40620568-40620679	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40615913..40618239-chr12:40619276..40621204,2	K562	blood:

Variant related genes	Relation type
ENSG00000225342	TF binding region
ENSG00000225342	Chromatin interaction

rs_ID	r²[population]
rs11564128	1.00[JPT][hapmap]
rs11564204	1.00[JPT][hapmap]
rs12368891	1.00[JPT][hapmap]
rs17442206	1.00[JPT][hapmap]
rs17442297	1.00[JPT][hapmap]
rs17442742	1.00[JPT][hapmap]
rs17442980	1.00[JPT][hapmap]
rs17443178	1.00[JPT][hapmap]
rs17443185	1.00[JPT][hapmap]
rs17443206	1.00[JPT][hapmap]
rs17443366	1.00[JPT][hapmap]
rs17443380	1.00[JPT][hapmap]
rs17443504	1.00[JPT][hapmap]
rs17443882	1.00[JPT][hapmap]
rs17443916	1.00[JPT][hapmap]
rs17443951	1.00[JPT][hapmap]
rs17444021	1.00[JPT][hapmap]
rs17444033	1.00[JPT][hapmap]
rs17444152	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17444299	1.00[JPT][hapmap]
rs17444653	1.00[JPT][hapmap]
rs17444695	1.00[JPT][hapmap]
rs17444805	1.00[JPT][hapmap]
rs17458093	1.00[JPT][hapmap]
rs17458121	1.00[JPT][hapmap]
rs17458202	1.00[JPT][hapmap]
rs17458396	1.00[JPT][hapmap]
rs17458417	1.00[JPT][hapmap]
rs17458487	1.00[JPT][hapmap]
rs17458528	1.00[JPT][hapmap]
rs17458836	1.00[JPT][hapmap]
rs17461337	1.00[JPT][hapmap]
rs17465737	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17465744	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17465751	1.00[JPT][hapmap]
rs17465807	1.00[JPT][hapmap]
rs17465877	1.00[JPT][hapmap]
rs17466002	1.00[JPT][hapmap]
rs17466143	1.00[JPT][hapmap]
rs17466206	1.00[JPT][hapmap]
rs17466213	1.00[JPT][hapmap]
rs17466241	1.00[JPT][hapmap]
rs17466458	1.00[JPT][hapmap]
rs17466514	1.00[JPT][hapmap]
rs17466535	1.00[JPT][hapmap]
rs17466584	1.00[JPT][hapmap]
rs17466612	1.00[JPT][hapmap]
rs17466969	1.00[JPT][hapmap]
rs17467081	1.00[JPT][hapmap]
rs17483857	1.00[JPT][hapmap]
rs17483996	1.00[JPT][hapmap]
rs17484176	1.00[JPT][hapmap]
rs17489170	1.00[JPT][hapmap]
rs17489218	1.00[JPT][hapmap]
rs17489225	1.00[JPT][hapmap]
rs17489246	1.00[JPT][hapmap]
rs17489253	1.00[JPT][hapmap]
rs17489267	1.00[JPT][hapmap]
rs17489365	1.00[JPT][hapmap]
rs17489410	1.00[JPT][hapmap]
rs17489417	1.00[JPT][hapmap]
rs17489466	1.00[JPT][hapmap]
rs17489501	1.00[JPT][hapmap]
rs17489583	1.00[JPT][hapmap]
rs17489590	1.00[JPT][hapmap]
rs17489597	1.00[JPT][hapmap]
rs17489638	1.00[JPT][hapmap]
rs17489869	1.00[JPT][hapmap]
rs17490006	1.00[JPT][hapmap]
rs17490334	1.00[JPT][hapmap]
rs17490341	1.00[JPT][hapmap]
rs17490599	1.00[JPT][hapmap]
rs17490769	1.00[JPT][hapmap]
rs17490796	1.00[JPT][hapmap]
rs17490810	1.00[JPT][hapmap]
rs17490914	1.00[JPT][hapmap]
rs17491047	1.00[JPT][hapmap]
rs17491061	1.00[JPT][hapmap]
rs17491068	1.00[JPT][hapmap]
rs17491075	1.00[JPT][hapmap]
rs17491180	1.00[JPT][hapmap]
rs17491340	1.00[JPT][hapmap]
rs17491445	1.00[JPT][hapmap]
rs17491515	1.00[JPT][hapmap]
rs17491529	1.00[JPT][hapmap]
rs17491638	1.00[JPT][hapmap]
rs17491807	1.00[JPT][hapmap]
rs17491835	1.00[JPT][hapmap]
rs17491863	1.00[JPT][hapmap]
rs17492110	1.00[JPT][hapmap]
rs17492145	1.00[JPT][hapmap]
rs17492194	1.00[JPT][hapmap]
rs17518057	1.00[JPT][hapmap]
rs17518071	1.00[JPT][hapmap]
rs17518141	1.00[JPT][hapmap]
rs17518148	1.00[JPT][hapmap]
rs17518155	1.00[JPT][hapmap]
rs17518204	1.00[JPT][hapmap]
rs17518232	1.00[JPT][hapmap]
rs17518343	1.00[JPT][hapmap]
rs17518413	1.00[JPT][hapmap]
rs17518420	1.00[JPT][hapmap]
rs17518532	1.00[JPT][hapmap]
rs17518910	1.00[JPT][hapmap]
rs17519531	1.00[JPT][hapmap]
rs17519566	1.00[JPT][hapmap]
rs17519580	1.00[JPT][hapmap]
rs17519615	1.00[JPT][hapmap]
rs17519671	1.00[JPT][hapmap]
rs17519811	1.00[JPT][hapmap]
rs17519825	1.00[JPT][hapmap]
rs17519832	1.00[JPT][hapmap]
rs17519985	1.00[JPT][hapmap]
rs17520020	1.00[JPT][hapmap]
rs17520278	1.00[JPT][hapmap]
rs17520292	1.00[JPT][hapmap]
rs17520515	1.00[JPT][hapmap]
rs17520620	1.00[JPT][hapmap]
rs17520956	1.00[JPT][hapmap]
rs17521026	1.00[JPT][hapmap]
rs28365178	1.00[JPT][hapmap]
rs28365191	1.00[JPT][hapmap]
rs28365203	1.00[JPT][hapmap]
rs28365211	1.00[JPT][hapmap]
rs28365221	1.00[JPT][hapmap]
rs28365226	1.00[JPT][hapmap]
rs28365233	1.00[JPT][hapmap]
rs28365242	1.00[JPT][hapmap]
rs28365682	1.00[JPT][hapmap]
rs28365690	1.00[JPT][hapmap]
rs28370682	1.00[JPT][hapmap]
rs28370787	1.00[JPT][hapmap]
rs28370793	1.00[JPT][hapmap]
rs28370796	1.00[JPT][hapmap]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1045408	chr12:40620554-40664424	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40616000-40621200	Active TSS	Primary monocytes fromperipheralblood	blood
2	chr12:40616600-40621000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:40616800-40620800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:40617400-40620800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40617400-40620800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:40617400-40621000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:40617400-40621000	Active TSS	Right Atrium	heart
8	chr12:40617400-40621400	Active TSS	Aorta	Aorta
9	chr12:40617600-40620800	Active TSS	Brain Anterior Caudate	brain
10	chr12:40617800-40620800	Active TSS	Brain Hippocampus Middle	brain
11	chr12:40617800-40621000	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:40618000-40620800	Active TSS	Lung	lung
13	chr12:40618000-40621000	Active TSS	A549	lung
14	chr12:40618200-40620800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:40618200-40620800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr12:40618800-40620800	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:40618800-40621200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr12:40619000-40621000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:40619000-40621000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr12:40619200-40621200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr12:40619400-40620800	Active TSS	Brain Cingulate Gyrus	brain
22	chr12:40619400-40620800	Active TSS	Duodenum Mucosa	Duodenum
23	chr12:40619400-40621000	Enhancers	HUVEC	blood vessel
24	chr12:40619400-40634600	Weak transcription	Spleen	Spleen
25	chr12:40619400-40644400	Weak transcription	Gastric	stomach
26	chr12:40619600-40621000	Enhancers	HMEC	breast
27	chr12:40619600-40621000	Enhancers	NHEK	skin
28	chr12:40619600-40621000	Enhancers	Osteobl	bone
29	chr12:40619600-40636400	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
32	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:40620000-40621000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:40620000-40621000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr12:40620200-40620800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr12:40620200-40620800	Enhancers	Stomach Mucosa	stomach
37	chr12:40620200-40620800	Enhancers	NH-A	brain
38	chr12:40620200-40621000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:40620200-40621000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:40620200-40621000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:40620200-40621000	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr12:40620200-40621400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:40620400-40621000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr12:40620400-40621000	Enhancers	Hela-S3	cervix
45	chr12:40620400-40621600	Active TSS	Primary hematopoietic stem cells	blood
46	chr12:40620400-40622600	Weak transcription	Psoas Muscle	Psoas
47	chr12:40620400-40630000	Weak transcription	Ovary	ovary
48	chr12:40620400-40644200	Weak transcription	Brain Angular Gyrus	brain
49	chr12:40620600-40620800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:40620600-40620800	Active TSS	Liver	Liver

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