Variant report

Variant	rs72913012
Chromosome Location	chr4:100785227-100785228
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	ATF1	chr4:100785021-100785339	K562	blood:	n/a	n/a
2	CCNT2	chr4:100785078-100785304	K562	blood:	n/a	n/a
3	MYC	chr4:100785058-100785337	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr4:100785071-100785338	HepG2	liver:	n/a	n/a
5	JUND	chr4:100785049-100785386	Hela-S3	cervix:	n/a	chr4:100785234-100785245
6	EP300	chr4:100785007-100785262	K562	blood:	n/a	n/a
7	MAFK	chr4:100785073-100785295	K562	blood:	n/a	n/a
8	EP300	chr4:100785037-100785276	SK-N-SH_RA	brain:	n/a	n/a
9	ARID3A	chr4:100784938-100785288	K562	blood:	n/a	n/a
10	STAT3	chr4:100785004-100785262	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr4:100785122-100785331	A549	lung:	n/a	n/a
12	FOXA1	chr4:100785019-100785255	HepG2	liver:	n/a	n/a
13	STAT3	chr4:100785101-100785305	Hela-S3	cervix:	n/a	n/a
14	FOXA1	chr4:100784990-100785326	HepG2	liver:	n/a	n/a
15	TBL1XR1	chr4:100785006-100785344	K562	blood:	n/a	n/a
16	FOS	chr4:100785066-100785427	MCF10A-Er-Src	breast:	n/a	chr4:100785234-100785245
17	FOS	chr4:100785061-100785381	HUVEC	blood vessel:	n/a	chr4:100785234-100785245
18	RCOR1	chr4:100785026-100785318	K562	blood:	n/a	n/a
19	ZNF384	chr4:100784807-100785241	K562	blood:	n/a	n/a
20	MAFF	chr4:100785072-100785246	HepG2	liver:	n/a	n/a
21	FOS	chr4:100785063-100785389	MCF10A-Er-Src	breast:	n/a	chr4:100785234-100785245
22	BHLHE40	chr4:100785010-100785293	K562	blood:	n/a	n/a
23	JUND	chr4:100785143-100785343	HepG2	liver:	n/a	chr4:100785234-100785245
24	CEBPB	chr4:100785047-100785338	K562	blood:	n/a	n/a
25	MAZ	chr4:100785085-100785308	K562	blood:	n/a	n/a
26	STAT3	chr4:100785090-100785273	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:100785047-100785416	MCF10A-Er-Src	breast:	n/a	chr4:100785234-100785245
28	KAP1	chr4:100784860-100785421	HEK293	kidney:	n/a	n/a
29	FOXA2	chr4:100784991-100785350	A549	lung:	n/a	n/a
30	FOXA1	chr4:100785063-100785283	T-47D	breast:	n/a	n/a
31	FOS	chr4:100785015-100785415	MCF10A-Er-Src	breast:	n/a	chr4:100785234-100785245
32	GATA3	chr4:100784903-100785456	MCF-7	breast:	n/a	n/a
33	JUND	chr4:100785017-100785397	K562	blood:	n/a	chr4:100785234-100785245
34	CEBPB	chr4:100785058-100785309	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100784573..100786604-chr4:100870218..100872169,2	K562	blood:
2	chr4:100784573..100786137-chr4:100870218..100872755,2	K562	blood:

Variant related genes	Relation type
DAPP1	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction

rs_ID	r²[population]
rs15924	0.81[AFR][1000 genomes]
rs72913018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7658527	1.00[AMR][1000 genomes]
rs767652	0.81[AFR][1000 genomes]

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100761000-100801200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:100768400-100799000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:100777600-100787400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:100777600-100800800	Weak transcription	Thymus	Thymus
5	chr4:100777800-100799200	Weak transcription	Fetal Thymus	thymus
6	chr4:100777800-100801000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:100778000-100786000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:100778000-100792000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:100778000-100798600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:100778000-100800200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:100778200-100798200	Weak transcription	Placenta	Placenta
12	chr4:100778400-100789600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:100778400-100800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:100778600-100786000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:100780000-100788200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:100781200-100789600	Weak transcription	Gastric	stomach
17	chr4:100781200-100791800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:100781200-100800800	Weak transcription	Esophagus	oesophagus
19	chr4:100781200-100800800	Weak transcription	Spleen	Spleen
20	chr4:100781200-100801000	Weak transcription	Pancreas	Pancrea
21	chr4:100781400-100795800	Strong transcription	Primary B cells from cord blood	blood
22	chr4:100782600-100790800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:100782800-100792200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:100782800-100793400	Strong transcription	GM12878-XiMat	blood
25	chr4:100783000-100791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:100783000-100793400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:100783000-100793600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:100783000-100796000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr4:100783200-100787200	Weak transcription	HMEC	breast
30	chr4:100783200-100789000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:100783200-100793000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:100783400-100787200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:100783400-100790600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:100783600-100785800	Weak transcription	Primary T cells from cord blood	blood
35	chr4:100784200-100785800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:100784200-100790000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:100784400-100787800	Enhancers	Fetal Lung	lung
38	chr4:100784400-100793000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:100784600-100785400	Enhancers	K562	blood
40	chr4:100784800-100785400	Enhancers	A549	lung
41	chr4:100784800-100786600	Enhancers	Colon Smooth Muscle	Colon
42	chr4:100784800-100790400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr4:100784800-100790400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:100784800-100792600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:100785000-100788000	Strong transcription	NHEK	skin
46	chr4:100785000-100790400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:100785200-100786600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:100785200-100787800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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