Variant report

Variant	rs17825554
Chromosome Location	chr14:78173748-78173749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:78173740-78173890	GM12864	blood:	n/a	n/a
2	RAD21	chr14:78173698-78173850	K562	blood:	n/a	n/a
3	REST	chr14:78173571-78175140	H1-neurons	neurons:	n/a	n/a
4	YY1	chr14:78173691-78174812	GM12878	blood:	n/a	chr14:78173947-78173956
5	CTCF	chr14:78173740-78173890	AG10803	skin:	n/a	n/a
6	RAD21	chr14:78173513-78174131	A549	lung:	n/a	n/a
7	CTCF	chr14:78173720-78173870	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr14:78173680-78173830	GM12868	blood:	n/a	n/a
9	CTCF	chr14:78173680-78173830	AoAF	blood vessel:	n/a	n/a
10	MAX	chr14:78173740-78174905	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr14:78173677-78173883	Lung_OC	lung:	n/a	n/a
12	CTCF	chr14:78173680-78173830	NHEK	skin:	n/a	n/a
13	CTCF	chr14:78173660-78173810	WERI-Rb-1	eye:	n/a	n/a
14	SREBP1	chr14:78173414-78177367	GM12878	blood:	n/a	n/a
15	CTCF	chr14:78173740-78173890	HPAF	blood vessel:	n/a	n/a
16	SMC3	chr14:78173604-78174746	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr14:78173700-78173850	GM12866	blood:	n/a	n/a
18	CTCF	chr14:78173740-78173890	HCM	heart:	n/a	n/a
19	NRF1	chr14:78173707-78173776	GM12878	blood:	n/a	n/a
20	EGR1	chr14:78173679-78174848	HCT-116	colon:	n/a	n/a
21	CTCF	chr14:78173680-78173830	GM12875	blood:	n/a	n/a
22	YY1	chr14:78173655-78174760	GM12892	blood:	n/a	chr14:78173947-78173956
23	CTCF	chr14:78173518-78174765	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:78173684-78174085	Gliobla	brain:	n/a	n/a
25	GABPA	chr14:78173342-78175299	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:78173660-78173810	HEK293	kidney:	n/a	n/a
27	SIN3A	chr14:78173486-78175850	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr14:78173720-78173870	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:78173558-78174091	A549	lung:	n/a	n/a
30	CTCF	chr14:78173715-78173870	GM10248	blood:	n/a	n/a
31	CTCF	chr14:78173713-78173860	Kidney_OC	kidney:	n/a	n/a
32	HCFC1	chr14:78173470-78175082	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr14:78173740-78173890	BE2_C	brain:	n/a	n/a
34	CTCF	chr14:78173620-78173770	HCT-116	colon:	n/a	n/a
35	RAD21	chr14:78173511-78174189	MCF-7	breast:	n/a	n/a
36	CTCF	chr14:78173640-78173790	K562	blood:	n/a	n/a
37	CTCF	chr14:78173625-78174079	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr14:78173680-78173914	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr14:78173700-78173850	GM12875	blood:	n/a	n/a
40	CTCF	chr14:78173694-78174242	GM19238	blood:	n/a	n/a
41	CHD1	chr14:78173476-78175605	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr14:78173740-78173890	RPTEC	kidney:	n/a	n/a
43	RAD21	chr14:78173620-78174107	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr14:78173709-78174187	MCF-7	breast:	n/a	n/a
45	ZNF384	chr14:78173607-78173952	K562	blood:	n/a	n/a
46	ZNF143	chr14:78173720-78174082	K562	blood:	n/a	n/a
47	CTCF	chr14:78173680-78173830	HL-60	blood:	n/a	n/a
48	CTCF	chr14:78173640-78173790	HCT-116	colon:	n/a	n/a
49	RUNX3	chr14:78173663-78174666	GM12878	blood:	n/a	n/a
50	CTCF	chr14:78173640-78173790	WI-38	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77841182..77844130-chr14:78173275..78175250,2	MCF-7	breast:
2	chr14:78173677..78176352-chr14:78201271..78203886,2	MCF-7	breast:
3	chr14:77772512..77775137-chr14:78173113..78175507,2	MCF-7	breast:
4	chr14:78173055..78176036-chr8:144819518..144822439,2	MCF-7	breast:
5	chr14:78169975..78173523-chr14:78173651..78176580,3	MCF-7	breast:
6	chr14:78116603..78122891-chr14:78172785..78176058,7	MCF-7	breast:
7	chr14:78121069..78121988-chr14:78173226..78174334,8	MCF-7	breast:
8	chr14:78013590..78016333-chr14:78173040..78175809,2	MCF-7	breast:
9	chr14:78166641..78172350-chr14:78172652..78176323,11	MCF-7	breast:

No data

Variant related genes	Relation type
SLIRP	TF binding region
ALKBH1	TF binding region
ENSG00000240233	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000100603	Chromatin interaction
ENSG00000258668	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11159289	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11848383	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes]
rs11849178	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851588	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12432712	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12436539	0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17752117	1.00[MEX][hapmap]
rs17752182	0.82[AMR][1000 genomes]
rs17752374	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17752496	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17752569	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752628	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17752640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17825584	1.00[CEU][hapmap];0.90[YRI][hapmap];0.96[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	0.81[AFR][1000 genomes];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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78172600-78175800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:78172600-78176000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:78172800-78173800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr14:78172800-78173800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:78172800-78173800	Flanking Active TSS	Rectal Smooth Muscle	rectum
6	chr14:78172800-78173800	Enhancers	Stomach Mucosa	stomach
7	chr14:78172800-78175800	Active TSS	A549	lung
8	chr14:78172800-78176400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:78172800-78176400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:78172800-78176600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr14:78173000-78173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:78173000-78173800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:78173000-78173800	Flanking Active TSS	Liver	Liver
14	chr14:78173000-78173800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr14:78173000-78173800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr14:78173000-78173800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:78173000-78173800	Flanking Active TSS	Dnd41	blood
18	chr14:78173000-78174000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr14:78173000-78174800	Active TSS	Brain Anterior Caudate	brain
20	chr14:78173000-78175000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:78173000-78175600	Active TSS	Psoas Muscle	Psoas
22	chr14:78173000-78175800	Active TSS	Right Atrium	heart
23	chr14:78173000-78176200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:78173200-78173800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr14:78173200-78173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:78173200-78173800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr14:78173200-78173800	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr14:78173200-78173800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr14:78173200-78173800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr14:78173200-78173800	Flanking Active TSS	HUVEC	blood vessel
31	chr14:78173200-78174000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr14:78173200-78174000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr14:78173200-78174000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr14:78173200-78175400	Active TSS	Fetal Muscle Trunk	muscle
35	chr14:78173200-78175600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:78173200-78175600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:78173200-78175600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:78173200-78175600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr14:78173200-78176000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr14:78173200-78176000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:78173200-78176200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:78173200-78176200	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr14:78173400-78173800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr14:78173400-78173800	Flanking Active TSS	Colonic Mucosa	Colon
45	chr14:78173400-78173800	Flanking Active TSS	Esophagus	oesophagus
46	chr14:78173400-78173800	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr14:78173400-78173800	Flanking Active TSS	Placenta	Placenta
48	chr14:78173400-78173800	Flanking Active TSS	Fetal Thymus	thymus
49	chr14:78173400-78173800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr14:78173400-78173800	Flanking Active TSS	Thymus	Thymus

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