Variant report

Variant	rs73311333
Chromosome Location	chr14:77770614-77770615
allele	C/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	GATA3	chr14:77770023-77770664	T-47D	breast:	n/a	n/a
2	JUN	chr14:77769978-77770676	K562	blood:	n/a	chr14:77770191-77770204
3	FOXM1	chr14:77769761-77770829	MCF-7	breast:	n/a	n/a
4	RFX5	chr14:77769965-77770728	Hela-S3	cervix:	n/a	n/a
5	SP1	chr14:77769792-77770622	HCT-116	colon:	n/a	n/a
6	FOSL2	chr14:77768913-77770631	A549	lung:	n/a	chr14:77769426-77769436 chr14:77769427-77769435 chr14:77769426-77769437 chr14:77769426-77769436 chr14:77769427-77769435 chr14:77769423-77769434 chr14:77769426-77769436 chr14:77769426-77769436 chr14:77769428-77769435
7	TCF12	chr14:77769873-77770648	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr14:77769948-77770685	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr14:77770200-77770657	MCF-7	breast:	n/a	n/a
10	JUND	chr14:77769815-77770707	MCF-7	breast:	n/a	chr14:77770218-77770229
11	GATA3	chr14:77769008-77770874	A549	lung:	n/a	chr14:77769649-77769665 chr14:77769646-77769667 chr14:77769653-77769662
12	EP300	chr14:77769924-77770673	SK-N-SH	brain:	n/a	n/a
13	NR2F2	chr14:77769971-77770717	MCF-7	breast:	n/a	n/a
14	SP1	chr14:77769808-77770686	A549	lung:	n/a	n/a
15	TCF12	chr14:77769042-77770618	A549	lung:	n/a	n/a
16	EP300	chr14:77769867-77770687	MCF-7	breast:	n/a	n/a
17	PBX3	chr14:77769954-77770730	SK-N-SH	brain:	n/a	n/a
18	GATA2	chr14:77769670-77770679	HUVEC	blood vessel:	n/a	n/a
19	SIN3AK20	chr14:77769038-77770880	MCF-7	breast:	n/a	n/a
20	GATA3	chr14:77769841-77770762	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr14:77769896-77770631	MCF-7	breast:	n/a	n/a
22	JUND	chr14:77769866-77770626	MCF-7	breast:	n/a	chr14:77770218-77770229
23	EP300	chr14:77769000-77770680	A549	lung:	n/a	chr14:77769426-77769435
24	GATA3	chr14:77769855-77770839	SK-N-SH	brain:	n/a	n/a
25	SIN3AK20	chr14:77769185-77770710	MCF-7	breast:	n/a	n/a
26	GATA3	chr14:77769160-77770831	MCF-7	breast:	n/a	chr14:77769649-77769665 chr14:77769646-77769667 chr14:77769653-77769662
27	ZNF217	chr14:77769899-77771081	MCF-7	breast:	n/a	n/a
28	EP300	chr14:77769153-77770726	MCF-7	breast:	n/a	chr14:77769426-77769435
29	GATA3	chr14:77770021-77770626	T-47D	breast:	n/a	n/a
30	TCF7L2	chr14:77770194-77770647	MCF-7	breast:	n/a	n/a
31	GATA3	chr14:77770093-77770657	MCF-7	breast:	n/a	n/a
32	JUND	chr14:77769847-77770615	HCT-116	colon:	n/a	chr14:77770218-77770229
33	EP300	chr14:77769301-77770621	Hela-S3	cervix:	n/a	chr14:77769426-77769435
34	FOSL1	chr14:77769837-77770648	HCT-116	colon:	n/a	n/a
35	JUND	chr14:77769234-77770655	Hela-S3	cervix:	n/a	chr14:77769426-77769436 chr14:77769427-77769435 chr14:77769426-77769436 chr14:77769427-77769435 chr14:77769423-77769434 chr14:77770218-77770229 chr14:77769426-77769436 chr14:77769426-77769436 chr14:77769428-77769435
36	FOSL2	chr14:77769848-77770675	MCF-7	breast:	n/a	n/a
37	SP1	chr14:77769112-77770698	A549	lung:	n/a	n/a
38	JUND	chr14:77769836-77770686	SK-N-SH	brain:	n/a	chr14:77770218-77770229
39	CEBPB	chr14:77769882-77770696	MCF-7	breast:	n/a	n/a
40	GATA3	chr14:77769186-77771050	MCF-7	breast:	n/a	chr14:77769649-77769665 chr14:77769646-77769667 chr14:77769653-77769662
41	FOXA2	chr14:77769165-77770646	HepG2	liver:	n/a	chr14:77770383-77770395
42	JUND	chr14:77769858-77770662	SK-N-SH	brain:	n/a	chr14:77770218-77770229
43	CEBPB	chr14:77769916-77770649	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77493943..77495664-chr14:77769543..77772430,2	MCF-7	breast:
2	chr14:77493529..77496906-chr14:77768438..77773961,7	MCF-7	breast:
3	chr14:77770444..77771981-chr14:77772678..77775032,2	K562	blood:
4	chr14:77646733..77650700-chr14:77767687..77771144,4	MCF-7	breast:
5	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:
6	chr14:77563062..77564827-chr14:77768939..77770911,3	MCF-7	breast:
7	chr14:77648085..77652144-chr14:77770230..77773335,4	MCF-7	breast:
8	chr14:77607238..77609198-chr14:77769869..77772335,2	MCF-7	breast:
9	chr14:77767650..77771138-chr14:77923006..77925950,6	MCF-7	breast:
10	chr14:77652279..77654027-chr14:77769352..77771008,2	MCF-7	breast:
11	chr14:77769535..77771801-chr8:102503565..102505939,2	MCF-7	breast:
12	chr14:77500013..77502065-chr14:77768592..77770680,2	MCF-7	breast:
13	chr14:77608325..77612966-chr14:77767561..77771911,6	MCF-7	breast:
14	chr14:77742580..77744356-chr14:77768244..77771004,2	MCF-7	breast:
15	chr14:77767504..77771365-chr14:77923200..77926224,4	MCF-7	breast:
16	chr14:77734159..77735864-chr14:77768086..77770638,2	MCF-7	breast:

Variant related genes	Relation type
POMT2	TF binding region
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000119669	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000177108	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17105685	1.00[ASN][1000 genomes]
rs55687913	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57387598	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66502123	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67600987	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681246	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006367	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77739600-77775600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:77741800-77773600	Weak transcription	GM12878-XiMat	blood
3	chr14:77742400-77780200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:77744000-77771400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:77751400-77775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:77751400-77786200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:77751800-77775600	Weak transcription	Thymus	Thymus
8	chr14:77752200-77775600	Weak transcription	Fetal Thymus	thymus
9	chr14:77752600-77773000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:77752600-77779200	Weak transcription	Fetal Heart	heart
11	chr14:77753600-77771800	Weak transcription	Fetal Brain Male	brain
12	chr14:77754600-77771000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:77760400-77773000	Strong transcription	Fetal Stomach	stomach
14	chr14:77762600-77772400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:77762800-77772200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:77762800-77774800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:77763400-77771200	Weak transcription	Primary B cells from cord blood	blood
18	chr14:77765000-77772000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:77765400-77772000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:77765600-77771600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:77765600-77773200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:77766200-77772600	Strong transcription	Dnd41	blood
23	chr14:77766200-77772800	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:77766200-77775200	Weak transcription	Primary T cells from cord blood	blood
25	chr14:77766400-77779200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:77766800-77771600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:77767200-77772400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:77767600-77772200	Enhancers	HSMMtube	muscle
29	chr14:77767600-77773000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:77767800-77773600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:77767800-77780400	Weak transcription	Colonic Mucosa	Colon
32	chr14:77768000-77771200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:77768000-77772200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr14:77768000-77772800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr14:77768000-77780600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:77768000-77780600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:77768200-77771000	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:77768200-77771000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:77768200-77771000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:77768200-77771800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:77768200-77772600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:77768400-77772000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:77768400-77772400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:77768600-77772000	Strong transcription	Fetal Lung	lung
45	chr14:77768600-77772600	Strong transcription	Ovary	ovary
46	chr14:77768800-77771600	Genic enhancers	HepG2	liver
47	chr14:77768800-77771800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:77768800-77780400	Weak transcription	Right Ventricle	heart
49	chr14:77769000-77771000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:77769000-77771400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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