Variant report

Variant	rs17099168
Chromosome Location	chr14:32938264-32938265
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	CTCF	chr14:32938240-32938390	HVMF	connective:	n/a	n/a
2	CEBPB	chr14:32938183-32938460	HepG2	liver:	n/a	n/a
3	CTCF	chr14:32938200-32938350	AG04449	skin:	n/a	n/a
4	FOS	chr14:32938100-32938507	MCF10A-Er-Src	breast:	n/a	chr14:32938285-32938293 chr14:32938283-32938294 chr14:32938283-32938295 chr14:32938286-32938297
5	EP300	chr14:32938142-32938482	SK-N-SH_RA	brain:	n/a	n/a
6	STAT3	chr14:32938161-32938472	MCF10A-Er-Src	breast:	n/a	chr14:32938357-32938368
7	MYC	chr14:32938100-32938504	MCF10A-Er-Src	breast:	n/a	chr14:32938285-32938294
8	FOS	chr14:32938101-32938468	MCF10A-Er-Src	breast:	n/a	chr14:32938285-32938293 chr14:32938283-32938294 chr14:32938283-32938295 chr14:32938286-32938297
9	CTCF	chr14:32938056-32939258	SK-N-SH	brain:	n/a	chr14:32938802-32938820 chr14:32938797-32938818 chr14:32938803-32938819
10	CTCF	chr14:32938160-32938310	HCFaa	heart:	n/a	n/a
11	EP300	chr14:32938137-32938931	Hela-S3	cervix:	n/a	chr14:32938878-32938892
12	MAFK	chr14:32938117-32938914	Hela-S3	cervix:	n/a	chr14:32938248-32938259 chr14:32938247-32938261 chr14:32938248-32938259
13	RAD21	chr14:32938112-32939036	SK-N-SH_RA	brain:	n/a	chr14:32938800-32938819 chr14:32938240-32938247 chr14:32938346-32938353
14	FOS	chr14:32938100-32938953	MCF10A-Er-Src	breast:	n/a	chr14:32938285-32938293 chr14:32938283-32938294 chr14:32938283-32938295 chr14:32938286-32938297
15	STAT3	chr14:32938121-32938960	MCF10A-Er-Src	breast:	n/a	chr14:32938357-32938368
16	CEBPB	chr14:32938112-32938927	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr14:32938143-32939051	IMR90	lung:	n/a	chr14:32938800-32938819 chr14:32938240-32938247 chr14:32938346-32938353
18	STAT3	chr14:32938126-32938869	MCF10A-Er-Src	breast:	n/a	chr14:32938357-32938368
19	FOS	chr14:32938095-32938948	MCF10A-Er-Src	breast:	n/a	chr14:32938285-32938293 chr14:32938283-32938294 chr14:32938283-32938295 chr14:32938286-32938297
20	FOS	chr14:32938121-32938673	HUVEC	blood vessel:	n/a	chr14:32938285-32938293 chr14:32938283-32938294 chr14:32938283-32938295 chr14:32938286-32938297
21	GATA3	chr14:32937960-32940059	SK-N-SH	brain:	n/a	chr14:32938896-32938903
22	USF2	chr14:32938187-32938447	Hela-S3	cervix:	n/a	n/a
23	MAFK	chr14:32938202-32938345	HepG2	liver:	n/a	chr14:32938248-32938259 chr14:32938247-32938261 chr14:32938248-32938259
24	RCOR1	chr14:32938118-32938448	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr14:32938123-32938524	IMR90	lung:	n/a	n/a
26	MAFK	chr14:32938181-32938387	HepG2	liver:	n/a	chr14:32938248-32938259 chr14:32938247-32938261 chr14:32938248-32938259
27	CTCF	chr14:32938260-32938410	HPAF	blood vessel:	n/a	n/a
28	STAT3	chr14:32938087-32938953	MCF10A-Er-Src	breast:	n/a	chr14:32938357-32938368
29	CTCF	chr14:32938240-32938390	RPTEC	kidney:	n/a	n/a
30	RAD21	chr14:32938104-32939071	Hela-S3	cervix:	n/a	chr14:32938800-32938819 chr14:32938240-32938247 chr14:32938346-32938353
31	SMC3	chr14:32937347-32939752	SK-N-SH	brain:	n/a	n/a
32	FOSL2	chr14:32938029-32938503	A549	lung:	n/a	chr14:32938285-32938293 chr14:32938283-32938295 chr14:32938286-32938297
33	CTCF	chr14:32938180-32938330	HPF	lung:	n/a	n/a
34	CTCF	chr14:32938260-32938490	NHEK	skin:	n/a	n/a
35	POLR2A	chr14:32938001-32938691	MCF10A-Er-Src	breast:	n/a	n/a
36	RAD21	chr14:32937166-32940019	SK-N-SH	brain:	n/a	chr14:32938800-32938819 chr14:32938240-32938247 chr14:32938346-32938353
37	EP300	chr14:32938224-32938455	SK-N-SH_RA	brain:	n/a	n/a
38	CEBPB	chr14:32938157-32938467	A549	lung:	n/a	n/a
39	POLR2A	chr14:32938142-32938558	SK-N-SH	brain:	n/a	n/a
40	RFX5	chr14:32938131-32938928	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr14:32938240-32938390	HCM	heart:	n/a	n/a
42	RAD21	chr14:32938159-32939006	SK-N-SH_RA	brain:	n/a	chr14:32938800-32938819 chr14:32938240-32938247 chr14:32938346-32938353
43	CTCF	chr14:32938180-32938330	AG10803	skin:	n/a	n/a
44	MYC	chr14:32938167-32938443	MCF10A-Er-Src	breast:	n/a	chr14:32938285-32938294
45	CTCF	chr14:32938126-32939276	A549	lung:	n/a	chr14:32938802-32938820 chr14:32938797-32938818 chr14:32938803-32938819
46	MAFF	chr14:32938219-32938389	HepG2	liver:	n/a	chr14:32938246-32938264
47	MAFK	chr14:32938090-32938454	IMR90	lung:	n/a	chr14:32938248-32938259 chr14:32938247-32938261 chr14:32938248-32938259
48	SMC3	chr14:32938172-32938991	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr14:32938228-32938419	MCF10A-Er-Src	breast:	n/a	n/a
50	GATA3	chr14:32938106-32939965	SK-N-SH	brain:	n/a	chr14:32938896-32938903

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32936100..32938638-chr14:32940941..32943770,2	K562	blood:

Variant related genes	Relation type
AKAP6	TF binding region
ENSG00000151320	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11156747	1.00[YRI][hapmap]
rs12100990	0.96[AFR][1000 genomes]
rs17099172	0.89[AFR][1000 genomes]
rs1957025	1.00[YRI][hapmap]
rs1957026	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv901595	chr14:32928634-32961434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32931000-32941400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:32936200-32942800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:32936200-32942800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:32936400-32938400	Enhancers	NHEK	skin
5	chr14:32936400-32943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:32936400-32944800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:32936600-32939400	Enhancers	Colon Smooth Muscle	Colon
8	chr14:32936600-32941800	Enhancers	HMEC	breast
9	chr14:32936800-32941200	Enhancers	Brain Anterior Caudate	brain
10	chr14:32936800-32942200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:32936800-32944000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:32937000-32938400	Weak transcription	Brain Substantia Nigra	brain
13	chr14:32937000-32939200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:32937200-32939400	Weak transcription	Brain Angular Gyrus	brain
15	chr14:32937400-32938400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:32937400-32939200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:32937400-32941800	Enhancers	Hela-S3	cervix
18	chr14:32937600-32938400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:32937600-32940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:32937600-32941200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:32937600-32941200	Enhancers	HSMMtube	muscle
22	chr14:32937600-32941400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:32937800-32938400	Weak transcription	Fetal Lung	lung
24	chr14:32937800-32938600	Enhancers	NHDF-Ad	bronchial
25	chr14:32937800-32938800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:32937800-32940000	Enhancers	Osteobl	bone
27	chr14:32937800-32940800	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:32937800-32941400	Enhancers	HSMM	muscle
29	chr14:32937800-32941600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:32937800-32941600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:32938000-32941200	Enhancers	Brain Hippocampus Middle	brain
32	chr14:32938000-32941600	Enhancers	Fetal Heart	heart
33	chr14:32938000-32947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:32938200-32938400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:32938200-32938600	Enhancers	Aorta	Aorta
36	chr14:32938200-32938600	Enhancers	Fetal Muscle Leg	muscle
37	chr14:32938200-32938600	Enhancers	A549	lung
38	chr14:32938200-32938600	Enhancers	NH-A	brain
39	chr14:32938200-32938800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:32938200-32938800	Enhancers	Stomach Smooth Muscle	stomach
41	chr14:32938200-32938800	Enhancers	HUVEC	blood vessel
42	chr14:32938200-32943600	Enhancers	Rectal Smooth Muscle	rectum

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