Variant report

Variant	rs34720143
Chromosome Location	chr14:69154780-69154781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr14:69154438-69154794	A549	lung:	n/a	n/a
2	YY1	chr14:69154542-69154845	A549	lung:	n/a	n/a
3	GATA3	chr14:69154275-69154993	A549	lung:	n/a	n/a
4	TEAD4	chr14:69154423-69154840	ECC-1	luminal epithelium:	n/a	n/a
5	CHD2	chr14:69154462-69154795	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr14:69154235-69154901	SK-N-SH	brain:	n/a	n/a
7	SP1	chr14:69154272-69154939	A549	lung:	n/a	n/a
8	FOSL2	chr14:69154303-69154947	A549	lung:	n/a	n/a
9	SMC3	chr14:69154439-69154818	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:69154334-69154791	Hela-S3	cervix:	n/a	n/a
11	MYC	chr14:69154424-69154895	MCF10A-Er-Src	breast:	n/a	n/a
12	MAX	chr14:69154405-69154807	Hela-S3	cervix:	n/a	n/a
13	JUND	chr14:69154440-69154845	A549	lung:	n/a	n/a
14	CEBPB	chr14:69154374-69154888	Hela-S3	cervix:	n/a	n/a
15	EP300	chr14:69154298-69154908	A549	lung:	n/a	n/a
16	EP300	chr14:69154181-69154941	ECC-1	luminal epithelium:	n/a	n/a
17	RFX5	chr14:69154450-69154785	Hela-S3	cervix:	n/a	n/a
18	NR3C1	chr14:69154327-69154955	A549	lung:	n/a	n/a
19	FOS	chr14:69154346-69154930	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr14:69154363-69154870	A549	lung:	n/a	n/a
21	STAT3	chr14:69154413-69154892	MCF10A-Er-Src	breast:	n/a	n/a
22	SP1	chr14:69154227-69155000	A549	lung:	n/a	n/a
23	CEBPB	chr14:69154456-69154799	A549	lung:	n/a	n/a
24	MAX	chr14:69154204-69154947	A549	lung:	n/a	n/a
25	MYC	chr14:69154443-69154856	MCF10A-Er-Src	breast:	n/a	n/a
26	TBP	chr14:69154451-69154818	Hela-S3	cervix:	n/a	n/a
27	STAT3	chr14:69154353-69154895	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr14:69154417-69154815	Hela-S3	cervix:	n/a	n/a
29	MAX	chr14:69154266-69154844	A549	lung:	n/a	n/a
30	TCF12	chr14:69154225-69154980	ECC-1	luminal epithelium:	n/a	n/a
31	FOS	chr14:69154430-69154931	MCF10A-Er-Src	breast:	n/a	n/a
32	GTF2F1	chr14:69154351-69154780	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr14:69154406-69154890	IMR90	lung:	n/a	n/a
34	STAT3	chr14:69154356-69154895	MCF10A-Er-Src	breast:	n/a	n/a
35	RCOR1	chr14:69154381-69154821	Hela-S3	cervix:	n/a	n/a
36	FOS	chr14:69154428-69154895	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr14:69154323-69154809	Hela-S3	cervix:	n/a	n/a
38	STAT3	chr14:69154428-69154793	Hela-S3	cervix:	n/a	n/a
39	RCOR1	chr14:69154204-69154974	IMR90	lung:	n/a	n/a
40	TEAD4	chr14:69154378-69154862	A549	lung:	n/a	n/a
41	JUND	chr14:69154385-69154791	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr14:69154229-69154866	A549	lung:	n/a	n/a
43	TEAD4	chr14:69154346-69154844	ECC-1	luminal epithelium:	n/a	n/a
44	FOS	chr14:69154428-69154931	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69154565..69157494-chr14:69268927..69270470,2	MCF-7	breast:
2	chr14:69150326..69151907-chr14:69154699..69156604,2	MCF-7	breast:
3	chr14:69151881..69156000-chr14:69158463..69160812,4	MCF-7	breast:
4	chr14:69154642..69156519-chr14:69158526..69160084,2	K562	blood:
5	chr14:69149664..69152870-chr14:69154292..69157271,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258623	TF binding region
ENSG00000242941	Chromatin interaction
ENSG00000258623	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12431919	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12436378	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1274761	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12887682	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12895574	0.81[EUR][1000 genomes]
rs12896428	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12898061	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17756914	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56273152	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7147855	0.87[EUR][1000 genomes]
rs957258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1329	chr14:69142476-69176987	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69141400-69156800	Enhancers	Placenta	Placenta
2	chr14:69146200-69155400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:69146600-69157400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:69147000-69157400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:69147200-69157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:69148000-69154800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:69148000-69157200	Enhancers	HMEC	breast
8	chr14:69148600-69155400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:69148800-69155400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:69149200-69157600	Enhancers	HSMM	muscle
11	chr14:69149800-69156200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:69150200-69157600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:69150400-69155000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:69150400-69155400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:69150400-69155400	Weak transcription	Ovary	ovary
16	chr14:69150400-69155600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:69150400-69155800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:69150600-69155000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:69150600-69155400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:69150600-69155600	Weak transcription	Colonic Mucosa	Colon
21	chr14:69150600-69155600	Weak transcription	K562	blood
22	chr14:69150600-69157800	Enhancers	HSMMtube	muscle
23	chr14:69150800-69155400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:69150800-69155400	Weak transcription	Brain Substantia Nigra	brain
25	chr14:69151400-69155600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:69151400-69155600	Weak transcription	Brain Angular Gyrus	brain
27	chr14:69151600-69157000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:69151800-69155000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:69152200-69155400	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:69152200-69155600	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:69152200-69155600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:69152200-69155800	Weak transcription	Spleen	Spleen
33	chr14:69152400-69159600	Weak transcription	Gastric	stomach
34	chr14:69152600-69155200	Weak transcription	Fetal Kidney	kidney
35	chr14:69152600-69155400	Weak transcription	Brain Anterior Caudate	brain
36	chr14:69152600-69155400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:69152600-69155400	Weak transcription	Left Ventricle	heart
38	chr14:69152600-69155600	Weak transcription	Right Atrium	heart
39	chr14:69152800-69155600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:69152800-69155600	Weak transcription	Adipose Nuclei	Adipose
41	chr14:69152800-69155600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:69153000-69154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:69153000-69155000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:69153000-69155400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:69153000-69155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:69153000-69155400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:69153000-69156000	Weak transcription	Primary T cells from cord blood	blood
48	chr14:69153000-69156200	Weak transcription	Stomach Mucosa	stomach
49	chr14:69153000-69157200	Enhancers	NHEK	skin
50	chr14:69153000-69171400	Weak transcription	Duodenum Mucosa	Duodenum

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