Variant report

Variant	rs2571598
Chromosome Location	chr7:100489639-100489640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr7:100489607-100489973	K562	blood:	n/a	chr7:100489903-100489916

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100424015..100426484-chr7:100488647..100490800,2	K562	blood:
2	chr7:100485568..100489865-chr7:100727204..100729829,6	MCF-7	breast:
3	chr7:100024866..100028113-chr7:100485356..100489963,5	MCF-7	breast:
4	chr7:100433653..100435265-chr7:100487454..100490757,3	MCF-7	breast:
5	chr7:100487290..100489665-chr7:100607825..100610804,2	K562	blood:
6	chr7:100315107..100317886-chr7:100488286..100489805,2	MCF-7	breast:
7	chr7:100299982..100306646-chr7:100485585..100490991,8	MCF-7	breast:
8	chr7:100421851..100424595-chr7:100488128..100489967,2	MCF-7	breast:
9	chr7:100486764..100489719-chr7:100736778..100738797,2	K562	blood:
10	chr7:100488064..100490956-chr7:100899362..100902023,2	MCF-7	breast:
11	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:

No data

Variant related genes	Relation type
UFSP1	TF binding region
ENSG00000146828	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000225946	Chromatin interaction
ENSG00000260336	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000169894	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1054391	0.94[EUR][1000 genomes]
rs10953305	0.80[ASN][1000 genomes]
rs11973000	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12666785	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12672665	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12705097	0.89[EUR][1000 genomes]
rs13225631	0.88[EUR][1000 genomes]
rs13232524	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13240020	0.89[EUR][1000 genomes]
rs13241786	0.87[EUR][1000 genomes]
rs15624	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1799806	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2405973	0.93[EUR][1000 genomes]
rs2405974	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2405975	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2720392	0.87[ASN][1000 genomes]
rs28852509	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2894713	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs314369	0.89[EUR][1000 genomes]
rs314375	0.90[EUR][1000 genomes]
rs314377	0.93[EUR][1000 genomes]
rs314378	0.94[EUR][1000 genomes]
rs34005963	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3757869	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3757870	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3757871	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3843541	0.88[EUR][1000 genomes]
rs3843542	0.91[EUR][1000 genomes]
rs3847064	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3847068	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3931823	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4729615	0.95[EUR][1000 genomes]
rs4729617	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4729619	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6465776	0.94[EUR][1000 genomes]
rs7783543	0.94[EUR][1000 genomes]
rs7798613	0.89[EUR][1000 genomes]
rs9718841	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking 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 miRNA target site	92 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv888802	chr7:100484917-100495530	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv607968	chr7:100486035-100492896	Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv888803	chr7:100486656-100497131	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv888804	chr7:100486754-100494202	Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv888805	chr7:100486754-100498057	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv482110	chr7:100487616-100493541	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
20	nsv888806	chr7:100488407-100495530	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100486600-100490600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:100488200-100489800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:100488200-100492600	Weak transcription	Liver	Liver
4	chr7:100488600-100492200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:100488800-100490000	Enhancers	HMEC	breast
6	chr7:100488800-100490000	Enhancers	NH-A	brain
7	chr7:100488800-100490200	Enhancers	K562	blood
8	chr7:100488800-100491800	Weak transcription	HSMM	muscle
9	chr7:100488800-100492000	Weak transcription	Gastric	stomach
10	chr7:100488800-100492000	Weak transcription	HSMMtube	muscle
11	chr7:100488800-100492200	Enhancers	Psoas Muscle	Psoas
12	chr7:100488800-100492400	Weak transcription	Lung	lung
13	chr7:100488800-100492400	Weak transcription	Right Atrium	heart
14	chr7:100488800-100492600	Weak transcription	Aorta	Aorta
15	chr7:100488800-100492800	Weak transcription	Small Intestine	intestine
16	chr7:100489000-100489800	Enhancers	Esophagus	oesophagus
17	chr7:100489000-100490000	Bivalent Enhancer	Fetal Thymus	thymus
18	chr7:100489000-100490000	Enhancers	NHEK	skin
19	chr7:100489000-100490400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:100489000-100490800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:100489000-100491800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:100489000-100492000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:100489000-100492000	Weak transcription	Right Ventricle	heart
24	chr7:100489000-100492400	Weak transcription	Left Ventricle	heart
25	chr7:100489000-100492400	Weak transcription	Pancreas	Pancrea
26	chr7:100489000-100492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:100489000-100492600	Weak transcription	Ovary	ovary
28	chr7:100489200-100489800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:100489200-100489800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:100489200-100489800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:100489200-100490000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:100489200-100490000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:100489200-100490000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:100489200-100490000	Bivalent Enhancer	Fetal Stomach	stomach
35	chr7:100489200-100490200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:100489200-100491200	Genic enhancers	Fetal Muscle Leg	muscle
37	chr7:100489200-100491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:100489200-100491800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:100489200-100492000	Weak transcription	Placenta	Placenta
40	chr7:100489200-100492000	Weak transcription	GM12878-XiMat	blood
41	chr7:100489200-100492200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:100489200-100492200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:100489200-100492400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:100489200-100492800	Weak transcription	Brain Substantia Nigra	brain
45	chr7:100489400-100490000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:100489400-100490000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:100489400-100490000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:100489400-100491000	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr7:100489400-100491400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:100489400-100491400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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