Variant report

Variant	rs56799320
Chromosome Location	chr7:11080827-11080828
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	KAP1	chr7:11080495-11080828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:11074028..11076863-chr7:11077305..11081463,4	K562	blood:
2	chr7:11011539..11015300-chr7:11077351..11081429,5	MCF-7	breast:
3	chr7:11076840..11078456-chr7:11079311..11081268,2	MCF-7	breast:

Variant related genes	Relation type
PHF14	TF binding region
ENSG00000106443	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12670220	1.00[AMR][1000 genomes]
rs12672128	1.00[AMR][1000 genomes]
rs17163914	1.00[AMR][1000 genomes]
rs17163915	1.00[AMR][1000 genomes]
rs17163921	1.00[AMR][1000 genomes]
rs3779410	1.00[AMR][1000 genomes]
rs55813149	1.00[AMR][1000 genomes]
rs56685525	1.00[AMR][1000 genomes]
rs56802892	1.00[AMR][1000 genomes]
rs56913090	1.00[AMR][1000 genomes]
rs57011556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57600747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57951445	1.00[AMR][1000 genomes]
rs58710725	1.00[AMR][1000 genomes]
rs58883350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58903529	1.00[AMR][1000 genomes]
rs58927562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59102692	1.00[AMR][1000 genomes]
rs59328153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59434425	1.00[AMR][1000 genomes]
rs59441504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418788	1.00[AMR][1000 genomes]
rs60502036	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60680874	1.00[AMR][1000 genomes]
rs60946963	1.00[AMR][1000 genomes]
rs61011519	1.00[AMR][1000 genomes]
rs61481160	1.00[AMR][1000 genomes]
rs61646663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61647045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286542	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv606194	chr7:11042905-11144078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11014600-11092000	Weak transcription	Colonic Mucosa	Colon
2	chr7:11014800-11117400	Weak transcription	HSMMtube	muscle
3	chr7:11015200-11108200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:11031600-11103800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:11035800-11092600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:11035800-11113000	Weak transcription	Esophagus	oesophagus
7	chr7:11035800-11113200	Weak transcription	Lung	lung
8	chr7:11035800-11123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:11036000-11101600	Weak transcription	Placenta	Placenta
10	chr7:11036600-11100800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:11039000-11090600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:11039000-11108800	Weak transcription	Psoas Muscle	Psoas
13	chr7:11046000-11128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:11046600-11081200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:11046600-11103400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:11046600-11122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
19	chr7:11048200-11098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:11048200-11113400	Weak transcription	Aorta	Aorta
21	chr7:11054400-11101800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:11054400-11113200	Weak transcription	Pancreas	Pancrea
23	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
24	chr7:11064200-11093600	Weak transcription	Hela-S3	cervix
25	chr7:11064400-11082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:11064400-11084800	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:11064400-11088400	Weak transcription	Brain Anterior Caudate	brain
28	chr7:11064400-11104200	Weak transcription	NHEK	skin
29	chr7:11064400-11112400	Weak transcription	Brain Germinal Matrix	brain
30	chr7:11064400-11112400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:11064400-11122800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:11064600-11091600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:11064600-11101400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:11064600-11101600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:11064600-11111800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:11065000-11101600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:11065000-11101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:11066400-11106800	Weak transcription	Fetal Kidney	kidney
39	chr7:11066600-11104400	Weak transcription	NHDF-Ad	bronchial
40	chr7:11068000-11081400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:11068400-11102800	Weak transcription	Small Intestine	intestine
42	chr7:11071800-11103800	Weak transcription	Right Ventricle	heart
43	chr7:11071800-11113000	Weak transcription	Fetal Intestine Small	intestine
44	chr7:11071800-11113000	Weak transcription	Fetal Stomach	stomach
45	chr7:11072600-11085600	Strong transcription	Dnd41	blood
46	chr7:11073600-11093600	Weak transcription	NHLF	lung
47	chr7:11074600-11083000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:11074800-11084400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:11074800-11086400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr7:11075000-11086600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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