Variant report

Variant	rs189473973
Chromosome Location	chr5:74635529-74635530
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	HEY1	chr5:74635370-74635718	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:74635416-74635697	HepG2	liver:	n/a	n/a
3	FOS	chr5:74635437-74635856	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr5:74635404-74635679	K562	blood:	n/a	chr5:74635444-74635457
5	FOS	chr5:74635502-74635731	MCF10A-Er-Src	breast:	n/a	n/a
6	BHLHE40	chr5:74635426-74635614	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:74635404-74638705	K562	blood:	n/a	n/a
8	FOS	chr5:74635437-74635802	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr5:74635408-74635751	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr5:74635374-74635772	Hela-S3	cervix:	n/a	chr5:74635444-74635457
11	CEBPB	chr5:74635468-74635704	A549	lung:	n/a	n/a
12	STAT3	chr5:74635417-74635816	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:74635424-74635594	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr5:74635417-74635724	K562	blood:	n/a	chr5:74635444-74635457
15	CEBPB	chr5:74635433-74635714	MCF-7	breast:	n/a	chr5:74635444-74635457
16	CEBPB	chr5:74635399-74635747	IMR90	lung:	n/a	chr5:74635444-74635457
17	E2F4	chr5:74635449-74635893	MCF10A-Er-Src	breast:	n/a	n/a
18	CEBPB	chr5:74635393-74635754	K562	blood:	n/a	chr5:74635444-74635457
19	CEBPB	chr5:74635436-74635608	HepG2	liver:	n/a	chr5:74635444-74635457
20	FOS	chr5:74635437-74635882	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr5:74635437-74635839	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr5:74635408-74635779	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:74635294-74637251	MCF10A-Er-Src	breast:	n/a	n/a
24	CEBPB	chr5:74635439-74635732	H1-hESC	embryonic stem cell:	n/a	chr5:74635444-74635457
25	WRNIP1	chr5:74635468-74635698	GM12878	blood:	n/a	n/a
26	STAT3	chr5:74635480-74635685	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr5:74635414-74635767	MCF10A-Er-Src	breast:	n/a	n/a
28	CEBPB	chr5:74635404-74635732	HepG2	liver:	n/a	chr5:74635444-74635457
29	MYC	chr5:74635403-74635814	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74634550..74639803-chr5:74643156..74647439,6	MCF-7	breast:
2	chr5:74635529..74638325-chr5:74638352..74640818,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247372	TF binding region
ENSG00000113161	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420962	chr5:74634946-74635894	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74631800-74636000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:74631800-74636400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:74631800-74637000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:74632000-74635600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:74632000-74635600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:74632000-74635600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:74632000-74635800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:74632000-74635800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:74632000-74635800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:74632000-74635800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:74632000-74636000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:74632000-74636600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:74632200-74635600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:74632200-74635600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:74632200-74635800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:74632200-74638400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr5:74632400-74636600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:74633800-74638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:74633800-74645800	Weak transcription	Gastric	stomach
20	chr5:74633800-74645800	Weak transcription	Spleen	Spleen
21	chr5:74633800-74650400	Weak transcription	Pancreas	Pancrea
22	chr5:74634000-74637000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:74634000-74637200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:74634000-74638800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:74634000-74640400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:74634000-74640400	Weak transcription	Left Ventricle	heart
27	chr5:74634200-74635800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:74634200-74635800	Active TSS	HepG2	liver
29	chr5:74634200-74636000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:74634200-74636800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
31	chr5:74634200-74639200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:74634200-74641200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:74634200-74641400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:74634400-74635600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:74634400-74635600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:74634400-74635800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:74634400-74636800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:74634400-74636800	Enhancers	Stomach Mucosa	stomach
39	chr5:74634400-74640400	Weak transcription	Lung	lung
40	chr5:74634400-74640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:74634400-74645400	Weak transcription	Psoas Muscle	Psoas
42	chr5:74634400-74645600	Weak transcription	Esophagus	oesophagus
43	chr5:74634400-74650800	Weak transcription	Aorta	Aorta
44	chr5:74634400-74652400	Weak transcription	Right Ventricle	heart
45	chr5:74634600-74636200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr5:74634600-74636800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr5:74634600-74639400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:74634600-74640000	Weak transcription	Colonic Mucosa	Colon
49	chr5:74634600-74640000	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:74634600-74640800	Weak transcription	Stomach Smooth Muscle	stomach

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