Variant report

Variant	rs72725797
Chromosome Location	chr14:70316904-70316905
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	NFIC	chr14:70316830-70317791	HepG2	liver:	n/a	n/a
2	HNF4A	chr14:70316885-70317821	HepG2	liver:	n/a	chr14:70317345-70317357 chr14:70317344-70317357 chr14:70317342-70317360 chr14:70317345-70317358 chr14:70317344-70317358 chr14:70317345-70317357
3	REST	chr14:70316807-70317417	HepG2	liver:	n/a	chr14:70316845-70316858
4	CEBPD	chr14:70316810-70317394	HepG2	liver:	n/a	n/a
5	NFIC	chr14:70316770-70317909	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:70316813-70317362	HepG2	liver:	n/a	n/a
7	HEY1	chr14:70316409-70317358	HepG2	liver:	n/a	chr14:70317162-70317177
8	YY1	chr14:70316813-70317332	HepG2	liver:	n/a	chr14:70317017-70317031 chr14:70317163-70317174 chr14:70316877-70316891
9	FOSL2	chr14:70316820-70317411	HepG2	liver:	n/a	chr14:70317170-70317179 chr14:70317250-70317258
10	HNF4G	chr14:70316815-70317919	HepG2	liver:	n/a	chr14:70317345-70317357 chr14:70317344-70317357 chr14:70317342-70317357 chr14:70317342-70317360 chr14:70317345-70317358 chr14:70317344-70317358 chr14:70317345-70317357
11	BHLHE40	chr14:70316574-70317327	HepG2	liver:	n/a	chr14:70317227-70317243
12	MYBL2	chr14:70316862-70317969	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:70316841-70317384	HepG2	liver:	n/a	n/a
14	ZBTB7A	chr14:70316882-70317311	HepG2	liver:	n/a	chr14:70317231-70317240
15	HDAC2	chr14:70316892-70317648	MCF-7	breast:	n/a	chr14:70317449-70317463 chr14:70317451-70317465 chr14:70317454-70317468 chr14:70317450-70317464
16	MYBL2	chr14:70316838-70317958	HepG2	liver:	n/a	n/a
17	RCOR1	chr14:70316891-70317941	HepG2	liver:	n/a	n/a
18	FOXA1	chr14:70316895-70317950	HepG2	liver:	n/a	n/a
19	ELF1	chr14:70316865-70317794	HepG2	liver:	n/a	chr14:70317018-70317030
20	HEY1	chr14:70316364-70317793	HepG2	liver:	n/a	chr14:70317162-70317177
21	EP300	chr14:70316815-70317897	HepG2	liver:	n/a	chr14:70317454-70317468
22	RAD21	chr14:70316861-70317393	HepG2	liver:	n/a	chr14:70317223-70317237 chr14:70317222-70317235
23	FOXA1	chr14:70316855-70317906	HepG2	liver:	n/a	n/a
24	TEAD4	chr14:70316814-70318056	HepG2	liver:	n/a	n/a
25	EP300	chr14:70316900-70317924	HepG2	liver:	n/a	chr14:70317454-70317468
26	POLR2A	chr14:70315656-70317692	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:70316339-70317423	HepG2	liver:	n/a	n/a
28	HNF4A	chr14:70316903-70317407	HepG2	liver:	n/a	chr14:70317345-70317357 chr14:70317344-70317357 chr14:70317342-70317360 chr14:70317345-70317358 chr14:70317344-70317358 chr14:70317345-70317357
29	YY1	chr14:70316624-70317434	HepG2	liver:	n/a	chr14:70317017-70317031 chr14:70317163-70317174 chr14:70316877-70316891 chr14:70316798-70316814
30	MAX	chr14:70316322-70317446	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:70316840-70317309	HepG2	liver:	n/a	n/a
32	SP1	chr14:70316812-70317954	HepG2	liver:	n/a	chr14:70317159-70317168 chr14:70317158-70317170 chr14:70317032-70317046 chr14:70317158-70317170 chr14:70317160-70317169 chr14:70316894-70316908
33	TAF1	chr14:70316817-70317353	HepG2	liver:	n/a	n/a
34	POLR2A	chr14:70316589-70317176	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:70316758-70317386	HepG2	liver:	n/a	n/a
36	TBP	chr14:70316878-70317700	HepG2	liver:	n/a	n/a
37	HDAC2	chr14:70316704-70317919	HepG2	liver:	n/a	chr14:70317449-70317463 chr14:70317451-70317465 chr14:70317454-70317468 chr14:70317450-70317464
38	ARID3A	chr14:70316855-70317854	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:70315812-70317406	HepG2	liver:	n/a	n/a
40	MXI1	chr14:70316498-70317923	HepG2	liver:	n/a	n/a
41	CEBPD	chr14:70316883-70317272	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70316898-70316948	PANC-1	pancreas:	n/a
2	chr14:70316898-70316948	HIPEpiC	eye:	n/a
3	chr14:70316898-70316948	HCPEpiC	choroid plexus:	n/a
4	chr14:70316898-70316948	HCT-116	colon:	n/a
5	chr14:70316898-70316948	IMR90	lung:	fetal
6	chr14:70316898-70316948	GM06990	blood:	n/a
7	chr14:70316898-70316948	AG09319	gingival:	n/a
8	chr14:70316898-70316948	PFSK-1	brain:	n/a
9	chr14:70316898-70316948	PrEC	prostate:	n/a
10	chr14:70316898-70316948	Jurkat	blood:	n/a
11	chr14:70316898-70316948	AG04449	skin:	fetal
12	chr14:70316898-70316948	MCF-7	breast:	n/a
13	chr14:70316898-70316948	ECC-1	luminal epithelium:	n/a
14	chr14:70316898-70316948	SK-N-SH	brain:	n/a
15	chr14:70316898-70316948	HepG2	liver:	n/a
16	chr14:70316898-70316948	HCF	heart:	n/a
17	chr14:70316898-70316948	AG09309	skin:	n/a
18	chr14:70316898-70316948	BJ	skin:	n/a
19	chr14:70316898-70316948	HRPEpiC	eye:	n/a
20	chr14:70316898-70316948	SK-N-SH_RA	brain:	n/a
21	chr14:70316898-70316948	Hepatocyte	liver:	n/a
22	chr14:70316898-70316948	HEK293	kidney:	embryo
23	chr14:70316898-70316948	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:70316898-70316948	Caco-2	colon:	n/a
25	chr14:70316898-70316948	HRE	kidney:	n/a
26	chr14:70316898-70316948	SAEC	small airway:	n/a
27	chr14:70316898-70316948	CMK	blood:	n/a
28	chr14:70316898-70316948	HMEC	breast:	n/a
29	chr14:70316898-70316948	LNCaP	prostate:	n/a
30	chr14:70316898-70316948	Hela-S3	cervix:	n/a
31	chr14:70316898-70316948	GM12891	blood:	n/a
32	chr14:70316898-70316948	H1-hESC	embryonic stem cell:	embryo
33	chr14:70316898-70316948	BE2_C	brain:	n/a
34	chr14:70316898-70316948	GM19239	blood:	n/a
35	chr14:70316898-70316948	RPTEC	kidney:	n/a
36	chr14:70316898-70316948	SK-N-MC	brain:	n/a
37	chr14:70316898-70316948	HNPCEpiC	eye:	n/a
38	chr14:70316898-70316948	T-47D	breast:	n/a
39	chr14:70316898-70316948	HUVEC	blood vessel:	n/a
40	chr14:70316898-70316948	ovcar-3	ovarian:	n/a
41	chr14:70316898-70316948	A549	lung:	n/a
42	chr14:70316898-70316948	K562	blood:	n/a
43	chr14:70316898-70316948	NB4	blood:	n/a
44	chr14:70316898-70316948	NH-A	brain:	n/a
45	chr14:70316898-70316948	HL-60	blood:	n/a
46	chr14:70316898-70316948	NHDF-neo	bronchial:	n/a
47	chr14:70316898-70316948	HAEpiC	amniotic membrane:	n/a
48	chr14:70316898-70316948	MCF10A-Er-Src	breast:	n/a
49	chr14:70316898-70316948	HRCEpiC	kidney:	n/a
50	chr14:70316898-70316948	GM12892	blood:	n/a

Variant related genes	Relation type
SMOC1	TF binding region
SMOC1	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10498531	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11844140	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2094273	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2094274	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2182521	0.96[EUR][1000 genomes]
rs4293310	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4508369	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55702672	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55813576	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56011122	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56019785	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61982148	0.87[AMR][1000 genomes]
rs61982149	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61982152	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61982154	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61982155	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61982156	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61983461	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61983462	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61983464	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61983474	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61983475	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61983476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61983519	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61983520	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7157732	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72725783	0.90[AMR][1000 genomes]
rs72725796	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70313200-70318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70315000-70317400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:70315800-70317400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:70316200-70317000	Enhancers	HSMMtube	muscle
5	chr14:70316200-70320000	Enhancers	Fetal Brain Male	brain
6	chr14:70316400-70317800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr14:70316600-70317000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:70316600-70317000	Active TSS	Fetal Brain Female	brain
9	chr14:70316600-70317200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:70316600-70317400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:70316600-70317400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:70316600-70317400	Active TSS	Liver	Liver
13	chr14:70316600-70317400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr14:70316600-70317400	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr14:70316600-70321800	Weak transcription	Hela-S3	cervix
16	chr14:70316800-70317000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr14:70316800-70317000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:70316800-70317200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:70316800-70317200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr14:70316800-70317200	Flanking Active TSS	Placenta	Placenta
21	chr14:70316800-70317400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:70316800-70317400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:70316800-70317400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
24	chr14:70316800-70317400	Active TSS	Brain Angular Gyrus	brain
25	chr14:70316800-70317400	Active TSS	Brain Anterior Caudate	brain
26	chr14:70316800-70317400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr14:70316800-70317400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr14:70316800-70317400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
29	chr14:70316800-70317400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:70316800-70317400	Active TSS	Duodenum Mucosa	Duodenum
31	chr14:70316800-70317400	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr14:70316800-70317400	Active TSS	Fetal Intestine Small	intestine
33	chr14:70316800-70317400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr14:70316800-70317400	Active TSS	Psoas Muscle	Psoas
35	chr14:70316800-70317400	Active TSS	HepG2	liver
36	chr14:70316800-70317400	Active TSS	HSMM	muscle
37	chr14:70316800-70317400	Bivalent/Poised TSS	NH-A	brain

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