Variant report

Variant	rs74060478
Chromosome Location	chr14:70317582-70317583
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	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	GATA3	chr14:70316995-70318019	MCF-7	breast:	n/a	n/a
4	TCF7L2	chr14:70317126-70317898	HepG2	liver:	n/a	n/a
5	NFIC	chr14:70316770-70317909	HepG2	liver:	n/a	n/a
6	HNF4A	chr14:70316913-70317801	HepG2	liver:	n/a	chr14:70317345-70317357 chr14:70317344-70317357 chr14:70317342-70317360 chr14:70317345-70317358 chr14:70317344-70317358 chr14:70317345-70317357
7	POLR2A	chr14:70317436-70317889	HepG2	liver:	n/a	n/a
8	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
9	MYBL2	chr14:70316862-70317969	HepG2	liver:	n/a	n/a
10	ELF1	chr14:70316921-70317765	HepG2	liver:	n/a	chr14:70317018-70317030
11	RXRA	chr14:70317440-70317841	HepG2	liver:	n/a	n/a
12	HDAC2	chr14:70316892-70317648	MCF-7	breast:	n/a	chr14:70317449-70317463 chr14:70317451-70317465 chr14:70317454-70317468 chr14:70317450-70317464
13	MYBL2	chr14:70316838-70317958	HepG2	liver:	n/a	n/a
14	RCOR1	chr14:70316891-70317941	HepG2	liver:	n/a	n/a
15	FOXA1	chr14:70316895-70317950	HepG2	liver:	n/a	n/a
16	MBD4	chr14:70316958-70317933	HepG2	liver:	n/a	n/a
17	ELF1	chr14:70316865-70317794	HepG2	liver:	n/a	chr14:70317018-70317030
18	MBD4	chr14:70316934-70317753	HepG2	liver:	n/a	n/a
19	HEY1	chr14:70316364-70317793	HepG2	liver:	n/a	chr14:70317162-70317177
20	FOXA2	chr14:70317296-70318130	HepG2	liver:	n/a	n/a
21	EP300	chr14:70316815-70317897	HepG2	liver:	n/a	chr14:70317454-70317468
22	MAZ	chr14:70316918-70317781	HepG2	liver:	n/a	n/a
23	CEBPB	chr14:70317209-70317861	HepG2	liver:	n/a	n/a
24	FOXA1	chr14:70316855-70317906	HepG2	liver:	n/a	n/a
25	TEAD4	chr14:70316814-70318056	HepG2	liver:	n/a	n/a
26	JUND	chr14:70317137-70317806	HepG2	liver:	n/a	chr14:70317248-70317259 chr14:70317170-70317179 chr14:70317250-70317258
27	FOXA1	chr14:70316929-70317919	HepG2	liver:	n/a	n/a
28	EP300	chr14:70316900-70317924	HepG2	liver:	n/a	chr14:70317454-70317468
29	RAD21	chr14:70317561-70317858	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:70315656-70317692	HepG2	liver:	n/a	n/a
31	FOXA1	chr14:70316907-70317942	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	HNF4A	chr14:70317416-70317790	HepG2	liver:	n/a	n/a
34	NR2F2	chr14:70316947-70317971	MCF-7	breast:	n/a	n/a
35	TBP	chr14:70316878-70317700	HepG2	liver:	n/a	n/a
36	HDAC2	chr14:70316704-70317919	HepG2	liver:	n/a	chr14:70317449-70317463 chr14:70317451-70317465 chr14:70317454-70317468 chr14:70317450-70317464
37	ARID3A	chr14:70316855-70317854	HepG2	liver:	n/a	n/a
38	HNF4G	chr14:70316914-70317831	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
39	EP300	chr14:70316954-70317885	HepG2	liver:	n/a	chr14:70317454-70317468
40	FOXA2	chr14:70316947-70317867	HepG2	liver:	n/a	n/a
41	MXI1	chr14:70316498-70317923	HepG2	liver:	n/a	n/a
42	SMC3	chr14:70317082-70317751	HepG2	liver:	n/a	chr14:70317229-70317239

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70317582-70317632	T-47D	breast:	n/a
2	chr14:70317582-70317632	NB4	blood:	n/a
3	chr14:70317582-70317632	MCF-7	breast:	n/a
4	chr14:70317582-70317632	SK-N-SH_RA	brain:	n/a
5	chr14:70317582-70317632	SKMC	muscle:	n/a
6	chr14:70317582-70317632	NH-A	brain:	n/a
7	chr14:70317582-70317632	HAEpiC	amniotic membrane:	n/a
8	chr14:70317582-70317632	HEK293	kidney:	embryo
9	chr14:70317582-70317632	GM12878	blood:	n/a
10	chr14:70317582-70317632	SK-N-MC	brain:	n/a
11	chr14:70317582-70317632	SK-N-SH	brain:	n/a
12	chr14:70317582-70317632	Hela-S3	cervix:	n/a
13	chr14:70317582-70317632	AG09309	skin:	n/a
14	chr14:70317582-70317632	HPAEpiC	pulmonary alveolar:	n/a
15	chr14:70317582-70317632	NT2-D1	testis:	n/a
16	chr14:70317582-70317632	HUVEC	blood vessel:	n/a
17	chr14:70317582-70317632	PANC-1	pancreas:	n/a
18	chr14:70317582-70317632	HCF	heart:	n/a
19	chr14:70317582-70317632	PrEC	prostate:	n/a
20	chr14:70317582-70317632	HEEpiC	esophagus:	n/a
21	chr14:70317582-70317632	BJ	skin:	n/a
22	chr14:70317582-70317632	GM12891	blood:	n/a
23	chr14:70317582-70317632	GM19239	blood:	n/a
24	chr14:70317582-70317632	HRE	kidney:	n/a
25	chr14:70317582-70317632	BE2_C	brain:	n/a
26	chr14:70317582-70317632	ECC-1	luminal epithelium:	n/a
27	chr14:70317582-70317632	HCM	heart:	n/a
28	chr14:70317582-70317632	AG04450	lung:	fetal
29	chr14:70317582-70317632	SAEC	small airway:	n/a
30	chr14:70317582-70317632	K562	blood:	n/a
31	chr14:70317582-70317632	LNCaP	prostate:	n/a
32	chr14:70317582-70317632	PFSK-1	brain:	n/a
33	chr14:70317582-70317632	AG09319	gingival:	n/a
34	chr14:70317582-70317632	AoSMC	blood vessel:	n/a
35	chr14:70317582-70317632	HL-60	blood:	n/a
36	chr14:70317582-70317632	A549	lung:	n/a
37	chr14:70317582-70317632	HRPEpiC	eye:	n/a
38	chr14:70317582-70317632	IMR90	lung:	fetal
39	chr14:70317582-70317632	H1-hESC	embryonic stem cell:	embryo
40	chr14:70317582-70317632	HNPCEpiC	eye:	n/a
41	chr14:70317582-70317632	NHBE	bronchial:	n/a
42	chr14:70317582-70317632	HCPEpiC	choroid plexus:	n/a
43	chr14:70317582-70317632	HRCEpiC	kidney:	n/a
44	chr14:70317582-70317632	NHDF-neo	bronchial:	n/a
45	chr14:70317582-70317632	Caco-2	colon:	n/a
46	chr14:70317582-70317632	RPTEC	kidney:	n/a
47	chr14:70317582-70317632	MCF10A-Er-Src	breast:	n/a
48	chr14:70317582-70317632	AG04449	skin:	fetal
49	chr14:70317582-70317632	HMEC	breast:	n/a
50	chr14:70317582-70317632	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70285653..70287364-chr14:70317276..70318842,2	MCF-7	breast:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55668218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55677947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59017109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59710581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59781261	1.00[AMR][1000 genomes]
rs60048839	1.00[AMR][1000 genomes]
rs73283370	1.00[AMR][1000 genomes]
rs73285222	1.00[AMR][1000 genomes]
rs74060484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060497	1.00[AMR][1000 genomes]
rs74060550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061428	1.00[AMR][1000 genomes]
rs74061431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061442	1.00[AFR][1000 genomes];1.00[AMR][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:17 , 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	chr14:70316200-70320000	Enhancers	Fetal Brain Male	brain
3	chr14:70316400-70317800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr14:70316600-70321800	Weak transcription	Hela-S3	cervix
5	chr14:70317000-70320000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:70317200-70318000	Enhancers	Placenta	Placenta
7	chr14:70317200-70325600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:70317400-70317600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:70317400-70317600	Flanking Active TSS	Liver	Liver
10	chr14:70317400-70317600	Enhancers	Fetal Muscle Leg	muscle
11	chr14:70317400-70317600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr14:70317400-70318000	Flanking Active TSS	HepG2	liver
13	chr14:70317400-70318200	Enhancers	Fetal Brain Female	brain
14	chr14:70317400-70318800	Enhancers	Brain Germinal Matrix	brain
15	chr14:70317400-70319000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:70317400-70319000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:70317400-70319200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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