Variant report

Variant	rs73104184
Chromosome Location	chr12:48109406-48109407
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	CTCF	chr12:48109024-48109589	K562	blood:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
2	FOS	chr12:48109122-48109735	MCF10A-Er-Src	breast:	n/a	chr12:48109399-48109413
3	RAD21	chr12:48109014-48109536	HepG2	liver:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276
4	CTCF	chr12:48109008-48109515	A549	lung:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
5	RCOR1	chr12:48109238-48109410	K562	blood:	n/a	n/a
6	CTCF	chr12:48109126-48109421	K562	blood:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
7	CTCF	chr12:48109135-48109413	Lung_OC	lung:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
8	CTCF	chr12:48108763-48109689	A549	lung:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
9	CTCF	chr12:48109048-48109467	K562	blood:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
10	RAD21	chr12:48109018-48109618	ECC-1	luminal epithelium:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276 chr12:48109541-48109550
11	RAD21	chr12:48109000-48109622	MCF-7	breast:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276 chr12:48109541-48109550
12	CTCF	chr12:48108947-48109553	HCT-116	colon:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
13	CTCF	chr12:48109161-48109437	NHEK	skin:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
14	CTCF	chr12:48109142-48109412	Hela-S3	cervix:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
15	FOS	chr12:48109296-48109762	MCF10A-Er-Src	breast:	n/a	chr12:48109399-48109413
16	CTCF	chr12:48109062-48109462	T-47D	breast:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
17	CTCF	chr12:48109141-48109425	Gliobla	brain:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
18	RAD21	chr12:48109066-48109452	K562	blood:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276
19	MAZ	chr12:48109107-48109435	K562	blood:	n/a	n/a
20	MYC	chr12:48109149-48109446	K562	blood:	n/a	n/a
21	RAD21	chr12:48109084-48109458	K562	blood:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276
22	FOXA2	chr12:48108947-48109568	A549	lung:	n/a	n/a
23	CTCF	chr12:48109101-48109432	GM12878	blood:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
24	FOXA1	chr12:48109040-48109467	T-47D	breast:	n/a	n/a
25	CTCF	chr12:48109151-48109410	GM19239	blood:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
26	CTCF	chr12:48109121-48109421	HUVEC	blood vessel:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
27	RAD21	chr12:48109084-48109517	HepG2	liver:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276
28	RAD21	chr12:48108989-48109613	H1-hESC	embryonic stem cell:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276 chr12:48109541-48109550
29	CTCF	chr12:48108901-48109873	HCT-116	colon:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
30	FOXA2	chr12:48109076-48109595	A549	lung:	n/a	n/a
31	CTCF	chr12:48109031-48109499	GM12878	blood:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
32	FOXA1	chr12:48109104-48109437	T-47D	breast:	n/a	n/a
33	RAD21	chr12:48108901-48109738	HCT-116	colon:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276 chr12:48109541-48109550
34	STAT3	chr12:48109249-48109829	MCF10A-Er-Src	breast:	n/a	chr12:48109753-48109765
35	STAT3	chr12:48109268-48109828	MCF10A-Er-Src	breast:	n/a	chr12:48109753-48109765
36	CTCF	chr12:48109145-48109430	GM19240	blood:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
37	SMC3	chr12:48109056-48109485	K562	blood:	n/a	chr12:48109264-48109274 chr12:48109260-48109274
38	CTCF	chr12:48109025-48109467	H1-hESC	embryonic stem cell:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
39	RCOR1	chr12:48109101-48109436	K562	blood:	n/a	n/a
40	CTCF	chr12:48109056-48109467	K562	blood:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
41	RAD21	chr12:48109052-48109496	GM12878	blood:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276
42	E2F4	chr12:48109314-48109782	MCF10A-Er-Src	breast:	n/a	n/a
43	RAD21	chr12:48109042-48109500	GM12878	blood:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276
44	RAD21	chr12:48109098-48109440	SK-N-SH_RA	brain:	n/a	chr12:48109259-48109278 chr12:48109262-48109275 chr12:48109264-48109274 chr12:48109264-48109276
45	CTCF	chr12:48108823-48109568	IMR90	lung:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
46	RFX5	chr12:48109255-48109455	HepG2	liver:	n/a	n/a
47	CTCF	chr12:48109166-48109433	Fibrobl	skin:	n/a	chr12:48109258-48109276 chr12:48109259-48109275 chr12:48109261-48109274 chr12:48109260-48109281
48	POLR2A	chr12:48109393-48109691	MCF10A-Er-Src	breast:	n/a	n/a
49	SMC3	chr12:48108800-48109553	GM12878	blood:	n/a	chr12:48109264-48109274 chr12:48109260-48109274
50	FOXA1	chr12:48109057-48109428	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48109201..48109826-chr12:48152830..48153420,3	K562	blood:
2	chr12:48108686..48109785-chr12:48232014..48233018,9	MCF-7	breast:
3	chr12:48107776..48110722-chr12:48159579..48161577,2	K562	blood:
4	chr12:48108449..48110795-chr12:48232871..48234613,2	K562	blood:
5	chr12:48109315..48109818-chr12:48227458..48228193,2	K562	blood:
6	chr12:48108810..48109754-chr12:48172755..48173734,6	K562	blood:
7	chr12:48109150..48109703-chr12:48135845..48136359,2	MCF-7	breast:
8	chr12:48109273..48110145-chr12:48132178..48132996,2	K562	blood:
9	chr12:48109020..48109676-chr12:48117627..48118375,2	K562	blood:
10	chr12:48109212..48111939-chr12:48164649..48166863,2	MCF-7	breast:
11	chr12:48108711..48109786-chr12:48173181..48173711,3	MCF-7	breast:
12	chr12:48108161..48111101-chr12:48229795..48232541,2	K562	blood:
13	chr12:48108886..48110989-chr12:48118546..48121224,2	MCF-7	breast:
14	chr12:48108894..48109761-chr12:48170471..48172411,6	K562	blood:
15	chr12:48108886..48109697-chr12:48230502..48231168,3	K562	blood:
16	chr12:48108807..48109517-chr12:48137483..48138335,4	MCF-7	breast:
17	chr12:48108739..48111513-chr12:48143992..48146721,2	MCF-7	breast:
18	chr12:48108762..48109744-chr12:48166665..48167534,3	MCF-7	breast:
19	chr12:48108819..48109771-chr12:48342972..48343902,5	K562	blood:
20	chr12:48109272..48110137-chr12:48166888..48167537,3	MCF-7	breast:
21	chr12:48108819..48109698-chr12:48232035..48232888,2	MCF-7	breast:
22	chr12:48107756..48109662-chr12:48167416..48168986,2	K562	blood:
23	chr12:48108389..48110707-chr12:48231215..48233864,2	MCF-7	breast:
24	chr12:48108347..48109699-chr12:48160633..48161575,5	K562	blood:
25	chr12:48109324..48111684-chr12:48163704..48166114,2	K562	blood:
26	chr12:48108354..48111166-chr12:48231258..48232998,20	K562	blood:
27	chr12:48098499..48101428-chr12:48108711..48111511,2	MCF-7	breast:
28	chr12:48109034..48109734-chr12:48167005..48167508,2	K562	blood:
29	chr12:48108589..48112284-chr12:48169450..48173129,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257433	TF binding region
ENSG00000111405	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000005175	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12422974	0.84[EUR][1000 genomes]
rs12423045	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12425816	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12426347	0.84[EUR][1000 genomes]
rs12426849	0.84[EUR][1000 genomes]
rs35784744	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57848393	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60186089	1.00[ASN][1000 genomes]
rs67201012	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67408202	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303895	0.87[EUR][1000 genomes]
rs7304743	0.87[EUR][1000 genomes]
rs73102120	0.84[EUR][1000 genomes]
rs73102125	0.84[EUR][1000 genomes]
rs73102127	0.84[EUR][1000 genomes]
rs73102140	0.84[EUR][1000 genomes]
rs73102148	0.84[EUR][1000 genomes]
rs73102151	0.84[EUR][1000 genomes]
rs73102166	0.84[EUR][1000 genomes]
rs73102168	0.84[EUR][1000 genomes]
rs73102171	0.84[EUR][1000 genomes]
rs73102188	0.87[EUR][1000 genomes]
rs73102195	0.87[EUR][1000 genomes]
rs73102201	0.87[EUR][1000 genomes]
rs73104103	0.87[EUR][1000 genomes]
rs73104104	0.87[EUR][1000 genomes]
rs73104111	0.87[EUR][1000 genomes]
rs73104115	0.87[EUR][1000 genomes]
rs73104116	0.87[EUR][1000 genomes]
rs73104138	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104143	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104144	0.95[EUR][1000 genomes]
rs73104148	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104152	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104155	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104161	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104163	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73104177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104190	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73104197	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73105803	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73105812	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73105814	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73105818	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73105819	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73105829	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73105845	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73105847	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73113159	0.84[EUR][1000 genomes]
rs73113161	0.84[EUR][1000 genomes]
rs7954764	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48100000-48111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48101400-48109600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:48101400-48111000	Weak transcription	Colonic Mucosa	Colon
4	chr12:48101400-48111200	Weak transcription	Small Intestine	intestine
5	chr12:48101800-48111200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:48103200-48111200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:48103400-48111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:48104600-48113000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:48105600-48111200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:48106200-48112600	Enhancers	Ovary	ovary
12	chr12:48106600-48111200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:48108200-48112400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:48108600-48112400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:48108800-48109600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:48108800-48109600	Enhancers	Primary B cells from cord blood	blood
17	chr12:48108800-48109600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:48108800-48109600	Enhancers	GM12878-XiMat	blood
19	chr12:48108800-48109800	Enhancers	Fetal Lung	lung
20	chr12:48108800-48111200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:48108800-48111200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:48108800-48112200	Enhancers	Brain Angular Gyrus	brain
23	chr12:48108800-48112200	Enhancers	Fetal Muscle Trunk	muscle
24	chr12:48108800-48112600	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:48108800-48112600	Enhancers	Fetal Muscle Leg	muscle
26	chr12:48108800-48112600	Enhancers	Fetal Stomach	stomach
27	chr12:48108800-48112600	Enhancers	Left Ventricle	heart
28	chr12:48108800-48112600	Enhancers	Right Atrium	heart
29	chr12:48108800-48112600	Enhancers	Right Ventricle	heart
30	chr12:48108800-48112800	Enhancers	Brain Hippocampus Middle	brain
31	chr12:48108800-48112800	Enhancers	Brain Substantia Nigra	brain
32	chr12:48108800-48113000	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:48109000-48109600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:48109000-48109600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:48109000-48109600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:48109000-48109600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:48109000-48109600	Enhancers	Fetal Intestine Small	intestine
38	chr12:48109000-48109600	Genic enhancers	Placenta	Placenta
39	chr12:48109000-48109800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:48109000-48109800	Enhancers	Aorta	Aorta
41	chr12:48109000-48109800	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:48109000-48109800	Enhancers	Fetal Intestine Large	intestine
43	chr12:48109000-48109800	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr12:48109000-48109800	Enhancers	Thymus	Thymus
45	chr12:48109000-48109800	Enhancers	NH-A	brain
46	chr12:48109000-48110000	Enhancers	Primary B cells from peripheral blood	blood
47	chr12:48109000-48110000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:48109000-48110000	Enhancers	Pancreas	Pancrea
49	chr12:48109000-48110200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:48109000-48110200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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