Variant report

Variant	rs17320869
Chromosome Location	chr3:43748983-43748984
allele	A/C
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	MYC	chr3:43748869-43749101	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr3:43748960-43749110	HPAF	blood vessel:	n/a	n/a
3	STAT3	chr3:43748828-43749051	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr3:43748856-43749042	T-47D	breast:	n/a	n/a
5	POLR2A	chr3:43745894-43749001	K562	blood:	n/a	n/a
6	STAT3	chr3:43748959-43749142	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr3:43748940-43749090	HMEC	breast:	n/a	n/a
8	MYC	chr3:43748869-43749040	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr3:43748771-43749052	T-47D	breast:	n/a	n/a
10	CTCF	chr3:43748900-43749050	HAc	cerebellar:	n/a	n/a
11	FOS	chr3:43748861-43749105	MCF10A-Er-Src	breast:	n/a	chr3:43748994-43749003
12	FOS	chr3:43748885-43749085	MCF10A-Er-Src	breast:	n/a	chr3:43748994-43749003
13	POLR2A	chr3:43748836-43749038	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr3:43748837-43749091	MCF10A-Er-Src	breast:	n/a	chr3:43748994-43749003

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43729847..43733891-chr3:43748339..43751413,6	MCF-7	breast:
2	chr3:43712776..43714761-chr3:43748977..43750830,2	K562	blood:

Variant related genes	Relation type
ABHD5	TF binding region
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17321267	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17408953	0.83[EUR][1000 genomes]
rs17409162	0.83[EUR][1000 genomes]
rs17474028	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2127723	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55659203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56389778	0.83[EUR][1000 genomes]
rs6762850	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs740837	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7617071	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9831055	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9831161	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9856765	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9872385	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9877066	1.00[CEU][hapmap]

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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43733200-43749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:43733400-43753200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:43733400-43767800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:43733600-43753600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:43733600-43767400	Weak transcription	Fetal Brain Male	brain
6	chr3:43733600-43768000	Weak transcription	Fetal Kidney	kidney
7	chr3:43733800-43749400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:43734000-43751800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:43734000-43753200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:43734200-43749600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:43734200-43753600	Weak transcription	Primary T cells from cord blood	blood
12	chr3:43734200-43753600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:43734200-43754800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:43734400-43751800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:43734400-43753200	Weak transcription	Fetal Thymus	thymus
16	chr3:43734400-43753200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:43734400-43753200	Weak transcription	HSMMtube	muscle
18	chr3:43734400-43762200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:43734600-43749400	Weak transcription	Brain Angular Gyrus	brain
20	chr3:43734600-43749400	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:43734600-43751800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:43734600-43753200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:43734600-43753200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:43734600-43753400	Weak transcription	Fetal Brain Female	brain
25	chr3:43734800-43749400	Weak transcription	Brain Substantia Nigra	brain
26	chr3:43734800-43753600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:43734800-43774400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:43735000-43753200	Weak transcription	Right Ventricle	heart
29	chr3:43735000-43761200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:43735200-43753400	Weak transcription	Brain Anterior Caudate	brain
31	chr3:43736600-43749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:43736800-43749200	Weak transcription	Esophagus	oesophagus
33	chr3:43738000-43762200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr3:43738200-43753200	Weak transcription	Fetal Lung	lung
35	chr3:43738400-43753400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:43738400-43753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:43738600-43749600	Weak transcription	Primary B cells from cord blood	blood
38	chr3:43738600-43753200	Weak transcription	Gastric	stomach
39	chr3:43738600-43753400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:43738600-43763600	Weak transcription	Small Intestine	intestine
41	chr3:43738800-43753600	Weak transcription	Psoas Muscle	Psoas
42	chr3:43738800-43763600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:43739600-43749000	Weak transcription	Stomach Mucosa	stomach
44	chr3:43740400-43762000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:43740600-43753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:43740600-43753400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:43741000-43768000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:43741400-43749800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:43741600-43762200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr3:43744200-43749000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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