Variant report

Variant	rs10953319
Chromosome Location	chr7:100728032-100728033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:100727974-100729432	IMR90	lung:	n/a	n/a
2	HCFC1	chr7:100727956-100729688	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
2	chr7:100727024..100731132-chr7:100797267..100800501,4	MCF-7	breast:
3	chr7:100608278..100610726-chr7:100727790..100730785,2	MCF-7	breast:
4	chr7:100486439..100489230-chr7:100726552..100729974,6	MCF-7	breast:
5	chr7:100480504..100482568-chr7:100725845..100728828,2	MCF-7	breast:
6	chr7:100727516..100730100-chr7:100796464..100799278,2	K562	blood:
7	chr7:100492344..100495062-chr7:100726871..100729209,3	MCF-7	breast:
8	chr7:100727759..100730257-chr7:100797481..100800178,3	MCF-7	breast:
9	chr7:100025071..100027924-chr7:100727777..100730095,3	K562	blood:

No data

Variant related genes	Relation type
TRIM56	TF binding region
ENSG00000087085	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000169894	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000106367	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11761638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12912	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13229117	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4524722	0.94[ASN][1000 genomes]
rs6945021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948536	0.81[ASN][1000 genomes]
rs6968929	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	esv1811048	chr7:100675933-100730280	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	esv1831657	chr7:100675933-100730280	Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
16	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
17	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100716800-100728400	Weak transcription	Right Atrium	heart
2	chr7:100721200-100728200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:100721400-100728200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:100721400-100728200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:100721800-100728200	Weak transcription	Primary B cells from cord blood	blood
6	chr7:100725000-100728200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:100726400-100728200	Enhancers	HepG2	liver
8	chr7:100727200-100728200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:100727200-100728400	Enhancers	Placenta	Placenta
10	chr7:100727200-100728600	Enhancers	HMEC	breast
11	chr7:100727600-100728800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:100727800-100728200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:100727800-100728200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:100727800-100728200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:100727800-100728200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100727800-100728200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:100727800-100728200	Enhancers	A549	lung
18	chr7:100727800-100728200	Enhancers	Hela-S3	cervix
19	chr7:100727800-100728200	Enhancers	NHEK	skin
20	chr7:100727800-100728400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:100727800-100728400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:100727800-100728400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:100727800-100728400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:100727800-100728400	Enhancers	Fetal Intestine Large	intestine
25	chr7:100727800-100728400	Enhancers	Fetal Intestine Small	intestine
26	chr7:100727800-100728400	Enhancers	Fetal Thymus	thymus
27	chr7:100727800-100728400	Enhancers	K562	blood
28	chr7:100728000-100728200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:100728000-100728200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:100728000-100728200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:100728000-100728200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:100728000-100728200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:100728000-100728200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:100728000-100728200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr7:100728000-100728200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr7:100728000-100728200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr7:100728000-100728200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:100728000-100728200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:100728000-100728200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:100728000-100728200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr7:100728000-100728200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:100728000-100728200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:100728000-100728200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:100728000-100728200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:100728000-100728200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:100728000-100728200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:100728000-100728200	Enhancers	Adipose Nuclei	Adipose
48	chr7:100728000-100728200	Enhancers	Brain Hippocampus Middle	brain
49	chr7:100728000-100728200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:100728000-100728200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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