Variant report

Variant	rs72698118
Chromosome Location	chr1:154381781-154381782
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	GATA2	chr1:154381604-154381878	SH-SY5Y	brain:	n/a	chr1:154381812-154381822
2	POLR2A	chr1:154377502-154382614	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:154381610-154381870	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr1:154381592-154381935	T-47D	breast:	n/a	chr1:154381812-154381822

No.	Distal block	Cell Line	Cell type
1	chr1:154377037..154380901-chr1:154381234..154387254,10	MCF-7	breast:
2	chr1:154376462..154378144-chr1:154380867..154382690,2	K562	blood:
3	chr1:154379631..154382392-chr20:55784816..55787372,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228013	TF binding region
ENSG00000160712	Chromatin interaction
ENSG00000228013	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12090237	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34806329	1.00[EUR][1000 genomes]
rs55886061	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698116	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72698123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698128	1.00[EUR][1000 genomes]
rs7411976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	132 gene(s)	inside rSNPs	diseases
4	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154378200-154382600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr1:154379000-154381800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:154379000-154381800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:154379200-154382000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:154379400-154383000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr1:154379800-154382000	Enhancers	Brain Substantia Nigra	brain
7	chr1:154379800-154382600	Enhancers	Brain Angular Gyrus	brain
8	chr1:154380000-154382200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:154380000-154383200	Enhancers	Left Ventricle	heart
10	chr1:154380200-154382000	Enhancers	Right Ventricle	heart
11	chr1:154380200-154383200	Enhancers	Small Intestine	intestine
12	chr1:154380200-154383400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:154380400-154381800	Enhancers	Colonic Mucosa	Colon
14	chr1:154380400-154383400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:154380400-154384000	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:154380400-154387000	Weak transcription	Pancreas	Pancrea
17	chr1:154380600-154384000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:154380800-154381800	Weak transcription	Fetal Stomach	stomach
19	chr1:154380800-154382000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:154380800-154382400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:154380800-154384000	Flanking Active TSS	Liver	Liver
22	chr1:154381000-154381800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:154381000-154382400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:154381000-154382400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr1:154381000-154382800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:154381000-154383000	Weak transcription	Esophagus	oesophagus
27	chr1:154381000-154383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:154381000-154383400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:154381000-154383400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:154381000-154383400	Enhancers	Brain Hippocampus Middle	brain
31	chr1:154381000-154384000	Enhancers	Colon Smooth Muscle	Colon
32	chr1:154381000-154384000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:154381000-154384000	Weak transcription	Osteobl	bone
34	chr1:154381000-154390800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:154381000-154390800	Weak transcription	NHLF	lung
36	chr1:154381200-154381800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:154381200-154381800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:154381200-154382000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr1:154381200-154382000	Enhancers	Adipose Nuclei	Adipose
40	chr1:154381200-154382000	Enhancers	Psoas Muscle	Psoas
41	chr1:154381200-154382200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:154381200-154382400	Weak transcription	Right Atrium	heart
43	chr1:154381200-154382600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:154381200-154383000	Weak transcription	Lung	lung
45	chr1:154381200-154383000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:154381200-154383400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:154381200-154383400	Enhancers	Primary B cells from cord blood	blood
48	chr1:154381200-154383400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:154381200-154383800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:154381200-154383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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