Variant report

Variant	rs17752569
Chromosome Location	chr14:78175915-78175916
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	POLR2A	chr14:78173770-78175937	GM12878	blood:	n/a	n/a
2	MAFK	chr14:78175756-78176067	HepG2	liver:	n/a	chr14:78175879-78175894 chr14:78175929-78175944
3	SREBP1	chr14:78173414-78177367	GM12878	blood:	n/a	n/a
4	MXI1	chr14:78172988-78176324	SK-N-SH	brain:	n/a	n/a
5	SRF	chr14:78175905-78176085	HepG2	liver:	n/a	chr14:78176004-78176022
6	POLR2A	chr14:78175254-78175957	MCF10A-Er-Src	breast:	n/a	n/a
7	WRNIP1	chr14:78175668-78175935	GM12878	blood:	n/a	n/a
8	MAFK	chr14:78175759-78176026	HepG2	liver:	n/a	chr14:78175879-78175894 chr14:78175929-78175944
9	POLR2A	chr14:78175700-78175964	HepG2	liver:	n/a	n/a
10	IRF1	chr14:78175311-78175949	K562	blood:	n/a	n/a
11	MAFF	chr14:78175758-78176073	HepG2	liver:	n/a	chr14:78175928-78175946
12	FOXA2	chr14:78175770-78176004	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:78173574-78176008	GM12891	blood:	n/a	n/a
14	POLR2A	chr14:78175867-78175983	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77934304..77936307-chr14:78175272..78177718,2	K562	blood:
2	chr14:77922378..77925268-chr14:78174504..78177181,3	MCF-7	breast:
3	chr14:78173677..78176352-chr14:78201271..78203886,2	MCF-7	breast:
4	chr14:77934807..77937271-chr14:78175752..78177718,2	K562	blood:
5	chr14:78174606..78176919-chr14:78226054..78227853,2	MCF-7	breast:
6	chr14:78173879..78175943-chr14:78227117..78229069,2	K562	blood:
7	chr14:78173055..78176036-chr8:144819518..144822439,2	MCF-7	breast:
8	chr14:78169975..78173523-chr14:78173651..78176580,3	MCF-7	breast:
9	chr14:78116603..78122891-chr14:78172785..78176058,7	MCF-7	breast:
10	chr14:78166641..78172350-chr14:78172652..78176323,11	MCF-7	breast:

Variant related genes	Relation type
ALKBH1	TF binding region
SLIRP	TF binding region
ENSG00000100591	Chromatin interaction
ENSG00000268208	Chromatin interaction
ENSG00000197734	Chromatin interaction
ENSG00000100603	Chromatin interaction
ENSG00000258668	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000203499	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11159289	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11848383	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[EUR][1000 genomes]
rs11849178	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12432712	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12436539	0.91[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17752182	0.82[AMR][1000 genomes]
rs17752374	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17752496	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17752628	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752640	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17825554	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17825584	1.00[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5809847	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60975821	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr14:78172600-78176000	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr14:78172800-78176400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:78172800-78176400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:78172800-78176600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr14:78173000-78176200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:78173200-78176000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:78173200-78176000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr14:78173200-78176200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:78173200-78176200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:78173400-78176400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:78173400-78176800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:78173600-78176000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:78173600-78176000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:78174200-78176200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:78174600-78176000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:78174600-78176200	Flanking Active TSS	Liver	Liver
17	chr14:78174800-78176000	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr14:78174800-78176000	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr14:78175000-78176000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr14:78175000-78176000	Flanking Active TSS	Fetal Brain Male	brain
21	chr14:78175000-78176000	Flanking Active TSS	HUVEC	blood vessel
22	chr14:78175000-78176200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr14:78175000-78176400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr14:78175000-78176400	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr14:78175000-78176400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr14:78175000-78176400	Flanking Active TSS	Dnd41	blood
27	chr14:78175000-78176600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:78175000-78176800	Enhancers	Spleen	Spleen
29	chr14:78175200-78176000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:78175200-78176000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:78175200-78176000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:78175200-78176000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr14:78175200-78176000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr14:78175200-78176200	Flanking Active TSS	Osteobl	bone
35	chr14:78175200-78176800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:78175200-78177600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:78175400-78176000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:78175400-78176000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr14:78175400-78176000	Enhancers	Stomach Mucosa	stomach
40	chr14:78175400-78176200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:78175400-78176200	Enhancers	Primary B cells from cord blood	blood
42	chr14:78175400-78176200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:78175400-78176200	Enhancers	Fetal Lung	lung
44	chr14:78175400-78176200	Enhancers	Fetal Muscle Leg	muscle
45	chr14:78175400-78176200	Enhancers	Small Intestine	intestine
46	chr14:78175400-78176400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:78175400-78176400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr14:78175400-78176400	Weak transcription	Fetal Thymus	thymus
49	chr14:78175400-78176400	Flanking Active TSS	Hela-S3	cervix
50	chr14:78175400-78176400	Flanking Active TSS	NHEK	skin

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