Variant report

Variant	rs3742908
Chromosome Location	chr14:70345990-70345991
allele	A/T
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	POLR2A	chr14:70345774-70346952	IMR90	lung:	n/a	n/a
2	TAF1	chr14:70345984-70346328	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr14:70345881-70346690	A549	lung:	n/a	n/a
4	POLR2A	chr14:70345721-70346317	HepG2	liver:	n/a	n/a
5	USF1	chr14:70345934-70346184	SK-N-SH_RA	brain:	n/a	chr14:70346144-70346160
6	PBX3	chr14:70345871-70346259	SK-N-SH	brain:	n/a	chr14:70346009-70346018 chr14:70346045-70346065
7	POLR2A	chr14:70345974-70346359	HepG2	liver:	n/a	n/a
8	PBX3	chr14:70345954-70346223	SK-N-SH	brain:	n/a	chr14:70346009-70346018 chr14:70346045-70346065
9	E2F4	chr14:70345898-70346306	MCF10A-Er-Src	breast:	n/a	chr14:70346289-70346299 chr14:70346288-70346297
10	TBP	chr14:70345873-70346363	HepG2	liver:	n/a	n/a
11	CTCF	chr14:70345960-70346110	SAEC	small airway:	n/a	n/a
12	SP2	chr14:70345745-70346326	HepG2	liver:	n/a	chr14:70346044-70346067 chr14:70346008-70346018
13	CHD2	chr14:70345685-70346986	Hela-S3	cervix:	n/a	chr14:70346082-70346092
14	HEY1	chr14:70345685-70346414	HepG2	liver:	n/a	chr14:70346340-70346355 chr14:70346083-70346098
15	POLR2A	chr14:70345949-70346373	HepG2	liver:	n/a	n/a
16	MAX	chr14:70345867-70348147	Hela-S3	cervix:	n/a	n/a
17	SP1	chr14:70345857-70346255	H1-hESC	embryonic stem cell:	n/a	chr14:70346082-70346094 chr14:70346083-70346092 chr14:70346082-70346093 chr14:70346083-70346097 chr14:70345999-70346020 chr14:70346083-70346093 chr14:70346083-70346092 chr14:70346082-70346094 chr14:70346083-70346093 chr14:70346078-70346087 chr14:70346084-70346093
18	POLR2A	chr14:70345933-70346379	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:70345880-70346832	MCF10A-Er-Src	breast:	n/a	n/a
20	TBP	chr14:70345775-70347966	Hela-S3	cervix:	n/a	n/a
21	FOS	chr14:70345858-70346225	Hela-S3	cervix:	n/a	chr14:70346008-70346017
22	POLR2A	chr14:70345950-70346472	A549	lung:	n/a	n/a
23	PBX3	chr14:70345765-70346289	A549	lung:	n/a	chr14:70346009-70346018 chr14:70346045-70346065
24	REST	chr14:70345860-70346376	HepG2	liver:	n/a	chr14:70346283-70346293 chr14:70346276-70346289 chr14:70346269-70346289 chr14:70346269-70346289 chr14:70346269-70346283 chr14:70345868-70345878
25	USF1	chr14:70345882-70346104	HepG2	liver:	n/a	n/a
26	MAFK	chr14:70345815-70346294	Hela-S3	cervix:	n/a	n/a
27	YY1	chr14:70345739-70346447	HepG2	liver:	n/a	chr14:70346288-70346299 chr14:70346373-70346387 chr14:70346291-70346300 chr14:70346288-70346297 chr14:70346370-70346384
28	PBX3	chr14:70345835-70346288	A549	lung:	n/a	chr14:70346009-70346018 chr14:70346045-70346065
29	SMARCB1	chr14:70345645-70347186	Hela-S3	cervix:	n/a	n/a
30	NFYB	chr14:70345854-70346245	GM12878	blood:	n/a	chr14:70346007-70346021 chr14:70346008-70346023
31	MXI1	chr14:70345673-70346574	HepG2	liver:	n/a	n/a
32	POLR2A	chr14:70345809-70347143	HepG2	liver:	n/a	n/a
33	CREB1	chr14:70345696-70346693	HepG2	liver:	n/a	n/a
34	USF1	chr14:70345742-70346174	H1-hESC	embryonic stem cell:	n/a	chr14:70345862-70345878 chr14:70346144-70346160
35	PBX3	chr14:70345984-70346133	GM12878	blood:	n/a	chr14:70346009-70346018 chr14:70346045-70346065
36	ARID3A	chr14:70345785-70346223	HepG2	liver:	n/a	n/a
37	BACH1	chr14:70345821-70346285	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTBP2	chr14:70345903-70346732	H1-hESC	embryonic stem cell:	n/a	n/a
39	NFYB	chr14:70345888-70346119	K562	blood:	n/a	chr14:70346007-70346021 chr14:70346008-70346023
40	ZNF263	chr14:70345704-70347835	HEK293-T-REx	kidney:	n/a	chr14:70346566-70346575 chr14:70346563-70346572
41	USF2	chr14:70345799-70346115	Hela-S3	cervix:	n/a	chr14:70345862-70345878
42	POLR2A	chr14:70345886-70346667	H1-neurons	neurons:	n/a	n/a
43	GTF2F1	chr14:70345770-70346305	Hela-S3	cervix:	n/a	n/a
44	MAX	chr14:70345954-70346609	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr14:70345632-70348797	MCF10A-Er-Src	breast:	n/a	n/a
46	REST	chr14:70345363-70346657	H1-neurons	neurons:	n/a	chr14:70346283-70346293 chr14:70346276-70346289 chr14:70346269-70346289 chr14:70346269-70346289 chr14:70346269-70346283 chr14:70345868-70345878
47	POLR2A	chr14:70345820-70346899	HEK293	kidney:	n/a	n/a
48	SP1	chr14:70345824-70346122	GM12878	blood:	n/a	chr14:70346082-70346094 chr14:70346083-70346092 chr14:70346082-70346093 chr14:70346083-70346097 chr14:70345999-70346020 chr14:70346083-70346093 chr14:70346083-70346092 chr14:70346082-70346094 chr14:70346083-70346093 chr14:70346078-70346087 chr14:70346084-70346093
49	USF1	chr14:70345892-70346143	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPD	chr14:70345982-70346278	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70345844..70346419-chr19:34663437..34664030,2	Hela-S3	cervix:
2	chr13:27825251..27825910-chr14:70345741..70346487,2	Hela-S3	cervix:
3	chr14:70345694..70346612-chr5:32585579..32586219,2	Hela-S3	cervix:

Variant related genes	Relation type
SMOC1	TF binding region
ENSG00000122026	Chromatin interaction
ENSG00000113387	Chromatin interaction
ENSG00000257103	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11158820	1.00[JPT][hapmap]
rs60351811	1.00[ASN][1000 genomes]
rs7156508	0.94[ASN][1000 genomes]
rs722815	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs958057	0.89[ASN][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	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
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70341400-70346200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70344000-70346000	Weak transcription	HMEC	breast
3	chr14:70344600-70346000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:70345400-70346000	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr14:70345400-70346000	Bivalent Enhancer	Placenta	Placenta
6	chr14:70345400-70346000	Flanking Active TSS	Hela-S3	cervix
7	chr14:70345400-70346600	Enhancers	Fetal Brain Male	brain
8	chr14:70345600-70346000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr14:70345600-70346000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70345600-70346000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:70345600-70346000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:70345600-70346000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:70345600-70346000	Flanking Active TSS	Liver	Liver
14	chr14:70345600-70346000	Flanking Active TSS	Fetal Brain Female	brain
15	chr14:70345600-70346000	Enhancers	Pancreas	Pancrea
16	chr14:70345600-70346000	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr14:70345600-70346000	Flanking Bivalent TSS/Enh	NHEK	skin
18	chr14:70345600-70346200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:70345600-70346200	Active TSS	A549	lung
20	chr14:70345600-70346400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
21	chr14:70345600-70346400	Active TSS	Brain Angular Gyrus	brain
22	chr14:70345600-70346800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr14:70345600-70347000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr14:70345600-70347200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr14:70345600-70347200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr14:70345600-70347400	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr14:70345600-70347600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr14:70345800-70346000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:70345800-70346000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:70345800-70346000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr14:70345800-70346000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr14:70345800-70346000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:70345800-70346000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr14:70345800-70346000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
35	chr14:70345800-70346000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr14:70345800-70346000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr14:70345800-70346200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr14:70345800-70346200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:70345800-70346200	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr14:70345800-70346200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr14:70345800-70346200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr14:70345800-70346200	Active TSS	Spleen	Spleen
43	chr14:70345800-70346400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:70345800-70346400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:70345800-70346400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr14:70345800-70346600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr14:70345800-70346600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:70345800-70346800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:70345800-70346800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:70345800-70346800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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