Variant report

Variant	rs1543856
Chromosome Location	chr4:102121930-102121931
allele	C/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	FOSL2	chr4:102121656-102122273	SK-N-SH	brain:	n/a	chr4:102121973-102121984
2	CEBPB	chr4:102121673-102122150	A549	lung:	n/a	n/a
3	JUND	chr4:102121629-102122279	SK-N-SH	brain:	n/a	chr4:102121994-102122005 chr4:102121972-102121983
4	SPI1	chr4:102121833-102122158	HL-60	blood:	n/a	n/a
5	FOXA1	chr4:102121781-102122177	HepG2	liver:	n/a	n/a
6	EP300	chr4:102121630-102122178	SK-N-SH	brain:	n/a	n/a
7	ATF1	chr4:102121866-102122066	K562	blood:	n/a	n/a
8	FOS	chr4:102121138-102122207	MCF10A-Er-Src	breast:	n/a	chr4:102121301-102121311 chr4:102121301-102121311 chr4:102121301-102121311 chr4:102121302-102121310 chr4:102121972-102121983
9	POLR2A	chr4:102121722-102122165	SK-N-SH	brain:	n/a	n/a
10	JUND	chr4:102121593-102122345	HCT-116	colon:	n/a	chr4:102121994-102122005 chr4:102121972-102121983
11	MAX	chr4:102121622-102122272	A549	lung:	n/a	n/a
12	JUN	chr4:102121588-102122180	Hela-S3	cervix:	n/a	n/a
13	MYC	chr4:102121824-102122063	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL2	chr4:102121760-102122144	HepG2	liver:	n/a	chr4:102121973-102121984
15	JUN	chr4:102121797-102122177	HUVEC	blood vessel:	n/a	n/a
16	STAT3	chr4:102121733-102122146	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr4:102121746-102122165	MCF-7	breast:	n/a	chr4:102121973-102121984
18	FOSL1	chr4:102121657-102122292	HCT-116	colon:	n/a	n/a
19	FOSL2	chr4:102121728-102122266	SK-N-SH	brain:	n/a	chr4:102121973-102121984
20	CEBPB	chr4:102121702-102122056	HepG2	liver:	n/a	n/a
21	YY1	chr4:102121774-102122014	HCT-116	colon:	n/a	n/a
22	GATA2	chr4:102121300-102122097	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr4:102121735-102122219	MCF10A-Er-Src	breast:	n/a	chr4:102121972-102121983
24	RAD21	chr4:102121712-102122157	IMR90	lung:	n/a	n/a
25	CEBPB	chr4:102121592-102122260	A549	lung:	n/a	n/a
26	FOS	chr4:102121692-102122181	MCF10A-Er-Src	breast:	n/a	chr4:102121972-102121983
27	STAT3	chr4:102121675-102122191	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL2	chr4:102121722-102122202	A549	lung:	n/a	chr4:102121973-102121984
29	POLR2A	chr4:102121748-102122080	PFSK-1	brain:	n/a	n/a
30	PBX3	chr4:102121735-102122156	SK-N-SH	brain:	n/a	n/a
31	EP300	chr4:102121800-102122105	SK-N-SH_RA	brain:	n/a	n/a
32	SP1	chr4:102121564-102122217	HCT-116	colon:	n/a	n/a
33	JUN	chr4:102121846-102122124	HepG2	liver:	n/a	n/a
34	GATA3	chr4:102121454-102122431	A549	lung:	n/a	n/a
35	POLR2A	chr4:102121649-102122150	U87	brain:	n/a	n/a
36	ARID3A	chr4:102121858-102122138	HepG2	liver:	n/a	n/a
37	MYC	chr4:102121735-102122165	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr4:102121825-102122129	Hela-S3	cervix:	n/a	chr4:102121972-102121983
39	POLR2A	chr4:102121706-102122025	HCT-116	colon:	n/a	n/a
40	EP300	chr4:102121621-102122335	A549	lung:	n/a	n/a
41	NR3C1	chr4:102121727-102122163	A549	lung:	n/a	n/a
42	TCF12	chr4:102121503-102122364	A549	lung:	n/a	n/a
43	STAT3	chr4:102121828-102122144	Hela-S3	cervix:	n/a	n/a
44	YY1	chr4:102121728-102121998	A549	lung:	n/a	n/a
45	TCF12	chr4:102120941-102122333	SK-N-SH	brain:	n/a	n/a
46	EP300	chr4:102121778-102122088	SK-N-SH_RA	brain:	n/a	n/a
47	TAF1	chr4:102121757-102122119	PFSK-1	brain:	n/a	n/a
48	CEBPB	chr4:102121686-102122097	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr4:102121674-102122152	IMR90	lung:	n/a	n/a
50	GATA3	chr4:102120893-102122261	SK-N-SH	brain:	n/a	chr4:102120974-102120981

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102121617..102124341-chr4:102190145..102192909,2	MCF-7	breast:

Variant related genes	Relation type
PPP3CA	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1021965	0.85[ASN][1000 genomes]
rs1354785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395475	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395476	0.85[ASN][1000 genomes]
rs1506799	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506800	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506802	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506803	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506804	0.85[ASN][1000 genomes]
rs17030851	0.81[ASN][1000 genomes]
rs2135610	0.85[ASN][1000 genomes]
rs2135614	0.80[ASN][1000 genomes]
rs2174683	0.80[ASN][1000 genomes]
rs2659503	0.85[ASN][1000 genomes]
rs2659504	0.85[ASN][1000 genomes]
rs2659505	0.85[ASN][1000 genomes]
rs2659506	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2659508	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2659509	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659511	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659512	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659513	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659532	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2659533	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659534	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2659537	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659538	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2659539	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659540	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659541	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659542	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2850980	0.85[ASN][1000 genomes]
rs2850981	0.85[ASN][1000 genomes]
rs2850982	0.85[ASN][1000 genomes]
rs2850985	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850987	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850989	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850990	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2850991	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850994	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2850995	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3804366	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4478191	0.82[ASN][1000 genomes]
rs73833252	0.83[ASN][1000 genomes]
rs931871	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102105400-102126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:102107600-102126600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:102109200-102126200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:102109800-102122600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr4:102111200-102122400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:102113200-102122400	Weak transcription	Aorta	Aorta
7	chr4:102113200-102124400	Weak transcription	Pancreas	Pancrea
8	chr4:102113600-102122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:102113800-102122800	Weak transcription	Right Atrium	heart
10	chr4:102113800-102126200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:102113800-102127200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:102113800-102131800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:102117200-102125800	Weak transcription	Dnd41	blood
14	chr4:102117200-102126200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:102117600-102123000	Enhancers	HepG2	liver
16	chr4:102117800-102124200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr4:102118000-102132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:102118200-102126800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:102118800-102126200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:102119200-102122200	Enhancers	Brain Anterior Caudate	brain
21	chr4:102119400-102122800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:102119400-102123200	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:102119400-102123200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:102119400-102123200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:102119400-102123200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:102119600-102122000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:102119600-102122600	Enhancers	Brain Angular Gyrus	brain
28	chr4:102119600-102126200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:102120000-102122800	Enhancers	Duodenum Mucosa	Duodenum
30	chr4:102120000-102131400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:102120200-102122800	Weak transcription	Gastric	stomach
32	chr4:102120200-102122800	Weak transcription	Left Ventricle	heart
33	chr4:102120200-102123200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:102120200-102125200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:102120400-102123200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:102120600-102122600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:102120600-102122800	Enhancers	HUVEC	blood vessel
38	chr4:102120600-102123200	Enhancers	NHLF	lung
39	chr4:102120600-102126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:102120800-102122800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:102120800-102123000	Enhancers	NH-A	brain
42	chr4:102120800-102123200	Enhancers	Small Intestine	intestine
43	chr4:102121000-102122000	Enhancers	HSMM	muscle
44	chr4:102121000-102122600	Weak transcription	Fetal Kidney	kidney
45	chr4:102121000-102122800	Enhancers	Hela-S3	cervix
46	chr4:102121000-102123000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:102121000-102123200	Enhancers	HMEC	breast
48	chr4:102121000-102126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:102121200-102122000	Enhancers	Adipose Nuclei	Adipose
50	chr4:102121200-102122200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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