Variant report

Variant	rs74056393
Chromosome Location	chr14:65182316-65182317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr14:65182094-65182548	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr14:65182140-65182586	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr14:65181730-65182690	H1-hESC	embryonic stem cell:	n/a	chr14:65182654-65182664
4	TCF12	chr14:65182209-65182932	ECC-1	luminal epithelium:	n/a	n/a
5	TEAD4	chr14:65182078-65182873	ECC-1	luminal epithelium:	n/a	n/a
6	BCL11A	chr14:65182258-65182456	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr14:65182154-65182687	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr14:65182225-65182539	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr14:65181602-65182584	H1-hESC	embryonic stem cell:	n/a	chr14:65181874-65181885
10	SP1	chr14:65182029-65182723	H1-hESC	embryonic stem cell:	n/a	chr14:65182326-65182337
11	MYC	chr14:65182159-65182911	H1-hESC	embryonic stem cell:	n/a	chr14:65182654-65182664
12	EP300	chr14:65182175-65182536	H1-hESC	embryonic stem cell:	n/a	n/a
13	NANOG	chr14:65182143-65182640	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr14:65182195-65182624	H1-hESC	embryonic stem cell:	n/a	chr14:65182326-65182337
15	JUND	chr14:65182192-65182567	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr14:65181844-65182964	H1-hESC	embryonic stem cell:	n/a	chr14:65182654-65182664
17	POLR2A	chr14:65182216-65182507	H1-hESC	embryonic stem cell:	n/a	n/a
18	TCF12	chr14:65182255-65183089	ECC-1	luminal epithelium:	n/a	n/a
19	E2F6	chr14:65181774-65182471	H1-hESC	embryonic stem cell:	n/a	chr14:65181874-65181885
20	MAX	chr14:65181790-65182902	H1-hESC	embryonic stem cell:	n/a	chr14:65182654-65182664
21	EP300	chr14:65182141-65182559	H1-hESC	embryonic stem cell:	n/a	n/a
22	HDAC2	chr14:65182102-65182668	H1-hESC	embryonic stem cell:	n/a	n/a
23	EP300	chr14:65182169-65182942	ECC-1	luminal epithelium:	n/a	n/a
24	ATF2	chr14:65182112-65182714	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr14:65182193-65182585	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTBP2	chr14:65182067-65182912	H1-hESC	embryonic stem cell:	n/a	n/a
27	TEAD4	chr14:65182043-65182650	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:65182268-65182513	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr14:65182259-65182537	H1-hESC	embryonic stem cell:	n/a	n/a
30	GTF2F1	chr14:65182278-65182496	H1-hESC	embryonic stem cell:	n/a	n/a
31	NANOG	chr14:65182161-65182692	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:65182191-65182652	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF143	chr14:65182067-65182926	H1-hESC	embryonic stem cell:	n/a	n/a
34	TCF12	chr14:65182204-65182510	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3A	chr14:65182210-65183999	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65182060..65184778-chr14:65193626..65195204,2	MCF-7	breast:
2	chr14:65182239..65187467-chr14:65224192..65227180,5	MCF-7	breast:
3	chr14:65182089..65184579-chr17:56735427..56737883,2	MCF-7	breast:
4	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10130553	1.00[AMR][1000 genomes]
rs10133196	1.00[AMR][1000 genomes]
rs10135368	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101185	1.00[AMR][1000 genomes]
rs17101973	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41381946	1.00[AMR][1000 genomes]
rs41456047	1.00[AMR][1000 genomes]
rs55845128	1.00[AMR][1000 genomes]
rs58703532	1.00[AMR][1000 genomes]
rs60242081	1.00[AMR][1000 genomes]
rs73271700	1.00[AMR][1000 genomes]
rs74056006	1.00[AMR][1000 genomes]
rs74056027	1.00[AMR][1000 genomes]
rs74056031	1.00[AMR][1000 genomes]
rs74056080	1.00[AMR][1000 genomes]
rs74056321	1.00[AMR][1000 genomes]
rs74056335	1.00[AMR][1000 genomes]
rs74056355	1.00[AMR][1000 genomes]
rs74056368	1.00[AMR][1000 genomes]
rs74056389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056392	1.00[AFR][1000 genomes]
rs74056398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056399	1.00[AMR][1000 genomes]
rs74056402	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056451	1.00[AMR][1000 genomes]
rs74056453	1.00[AMR][1000 genomes]
rs74056462	1.00[AMR][1000 genomes]
rs74058205	1.00[AMR][1000 genomes]
rs74058206	1.00[AMR][1000 genomes]
rs74058207	1.00[AMR][1000 genomes]
rs74058208	1.00[AMR][1000 genomes]
rs74058211	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65176000-65186400	Weak transcription	Osteobl	bone
2	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:65177200-65183400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr14:65180800-65182400	Enhancers	Brain Angular Gyrus	brain
5	chr14:65180800-65185400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:65181000-65189400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:65181200-65182400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:65181200-65182600	Enhancers	Placenta	Placenta
10	chr14:65181200-65183800	Weak transcription	Hela-S3	cervix
11	chr14:65181200-65184400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:65181200-65185800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:65181200-65189600	Enhancers	Liver	Liver
14	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:65181400-65182400	Enhancers	Aorta	Aorta
16	chr14:65181400-65182400	Enhancers	Fetal Intestine Large	intestine
17	chr14:65181400-65182400	Enhancers	Left Ventricle	heart
18	chr14:65181400-65182400	Enhancers	Right Atrium	heart
19	chr14:65181400-65182600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:65181400-65182600	Enhancers	Right Ventricle	heart
21	chr14:65181400-65183000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr14:65181400-65183400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr14:65181400-65183600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr14:65181400-65184800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:65181600-65182400	Enhancers	Esophagus	oesophagus
26	chr14:65181600-65183400	Weak transcription	Lung	lung
27	chr14:65181600-65183600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:65181600-65189400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:65181800-65182400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:65181800-65182400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:65181800-65182400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:65181800-65182400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr14:65181800-65182400	Enhancers	Fetal Heart	heart
34	chr14:65181800-65182400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr14:65181800-65182400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:65181800-65182600	Genic enhancers	A549	lung
37	chr14:65181800-65183200	Enhancers	Fetal Lung	lung
38	chr14:65181800-65183200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr14:65181800-65183400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:65181800-65184200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:65181800-65184600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:65181800-65185000	Enhancers	Fetal Muscle Trunk	muscle
43	chr14:65181800-65186200	Enhancers	Fetal Muscle Leg	muscle
44	chr14:65181800-65188800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:65181800-65190600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:65181800-65192400	Enhancers	Adipose Nuclei	Adipose
47	chr14:65181800-65194400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr14:65182000-65182400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr14:65182000-65182400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr14:65182000-65182400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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