Variant report

Variant	rs73726119
Chromosome Location	chr7:150130373-150130374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:150130348-150130772	K562	blood:	n/a	n/a
2	POLR2A	chr7:150130024-150133386	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:150130344-150133698	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:150130092-150131205	GM12892	blood:	n/a	n/a
5	BCLAF1	chr7:150130198-150131096	GM12878	blood:	n/a	chr7:150130589-150130598
6	POLR2A	chr7:150130273-150133370	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:150130368-150131070	GM15510	blood:	n/a	n/a
8	ZMIZ1	chr7:150130089-150130771	K562	blood:	n/a	n/a
9	WRNIP1	chr7:150130286-150132305	GM12878	blood:	n/a	n/a
10	NFIC	chr7:150130301-150130998	GM12878	blood:	n/a	n/a
11	CUX1	chr7:150130129-150131075	K562	blood:	n/a	n/a
12	STAT5A	chr7:150130202-150131286	GM12878	blood:	n/a	n/a
13	EP300	chr7:150130372-150131041	K562	blood:	n/a	n/a
14	MTA3	chr7:150130038-150133414	GM12878	blood:	n/a	n/a
15	MAFK	chr7:150130305-150130997	K562	blood:	n/a	n/a
16	ATF1	chr7:150130368-150130777	K562	blood:	n/a	n/a
17	STAT3	chr7:150130373-150131166	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:150130311-150131073	GM12892	blood:	n/a	n/a
19	TEAD4	chr7:150130016-150130965	K562	blood:	n/a	n/a
20	POLR2A	chr7:150130323-150133680	GM12878	blood:	n/a	n/a
21	PML	chr7:150130316-150131250	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:150130341-150131386	GM19193	blood:	n/a	n/a
23	TAF1	chr7:150130371-150131110	GM12878	blood:	n/a	n/a
24	MXI1	chr7:150130358-150131157	GM12878	blood:	n/a	n/a
25	RUNX3	chr7:150130331-150131444	GM12878	blood:	n/a	n/a
26	ATF2	chr7:150130160-150131249	GM12878	blood:	n/a	n/a
27	MTA3	chr7:150130362-150131195	GM12878	blood:	n/a	n/a
28	RCOR1	chr7:150130174-150131341	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:150130204-150131093	GM18951	blood:	n/a	n/a
30	UBTF	chr7:150130347-150130921	K562	blood:	n/a	n/a
31	BHLHE40	chr7:150130204-150130849	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150099718..150102062-chr7:150129624..150131770,3	K562	blood:
2	chr7:150064404..150066708-chr7:150128401..150130893,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00996	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13231699	1.00[EUR][1000 genomes]
rs1916008	1.00[EUR][1000 genomes]
rs55775481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59687117	1.00[EUR][1000 genomes]
rs60499586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60819907	1.00[EUR][1000 genomes]
rs61393929	1.00[EUR][1000 genomes]
rs61676552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6953608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6970763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6970874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971976	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726116	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726117	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726123	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73726124	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7785863	1.00[EUR][1000 genomes]
rs7793974	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
2	chr7:150110200-150142200	Weak transcription	Gastric	stomach
3	chr7:150126400-150130800	Weak transcription	Esophagus	oesophagus
4	chr7:150126600-150132600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:150126600-150148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:150127000-150130800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:150127800-150131000	Weak transcription	Colonic Mucosa	Colon
8	chr7:150127800-150138800	Weak transcription	Spleen	Spleen
9	chr7:150128600-150130400	Enhancers	K562	blood
10	chr7:150129000-150130600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:150129200-150132600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:150129400-150130400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:150129800-150130800	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:150129800-150131000	Enhancers	Fetal Thymus	thymus
15	chr7:150129800-150134200	Enhancers	Primary B cells from cord blood	blood
16	chr7:150130000-150130400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr7:150130000-150130400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:150130000-150130400	Enhancers	Fetal Muscle Trunk	muscle
19	chr7:150130000-150130400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr7:150130000-150130400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr7:150130000-150130600	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:150130000-150130600	Flanking Active TSS	GM12878-XiMat	blood
23	chr7:150130000-150131000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150130000-150131200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr7:150130000-150131400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:150130000-150131400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:150130200-150130400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:150130200-150130400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr7:150130200-150130800	Weak transcription	Placenta	Placenta
30	chr7:150130200-150131400	Enhancers	Primary hematopoietic stem cells	blood
31	chr7:150130200-150133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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