Variant report

Variant	rs72957723
Chromosome Location	chr4:148786906-148786907
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148605054..148606838-chr4:148786766..148789557,2	MCF-7	breast:
2	chr4:148602747..148604694-chr4:148786468..148788057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11943897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17614013	0.90[EUR][1000 genomes]
rs61479941	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:148764400-148787000	Weak transcription	NHEK	skin
3	chr4:148764600-148787800	Weak transcription	HMEC	breast
4	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
9	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
10	chr4:148776400-148787200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:148777000-148796200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
13	chr4:148777400-148796600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:148777800-148796200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:148778600-148787400	Weak transcription	Hela-S3	cervix
16	chr4:148779800-148793800	Weak transcription	Fetal Lung	lung
17	chr4:148782000-148799400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:148782800-148787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:148783000-148796200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:148783000-148796200	Weak transcription	Thymus	Thymus
21	chr4:148783200-148787400	Enhancers	Ovary	ovary
22	chr4:148783400-148796400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:148783400-148796400	Weak transcription	Lung	lung
24	chr4:148783600-148787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:148783600-148789800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:148783600-148796200	Weak transcription	Esophagus	oesophagus
27	chr4:148783600-148796200	Weak transcription	Placenta	Placenta
28	chr4:148783800-148787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:148783800-148787200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:148783800-148787200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:148783800-148787200	Weak transcription	Right Atrium	heart
32	chr4:148783800-148788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:148783800-148788400	Weak transcription	Fetal Stomach	stomach
34	chr4:148783800-148789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:148783800-148790000	Weak transcription	Left Ventricle	heart
36	chr4:148783800-148796200	Weak transcription	Fetal Intestine Large	intestine
37	chr4:148783800-148796200	Weak transcription	Gastric	stomach
38	chr4:148783800-148796200	Weak transcription	Right Ventricle	heart
39	chr4:148784200-148787200	Weak transcription	Brain Germinal Matrix	brain
40	chr4:148784200-148787200	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:148784200-148788400	Enhancers	Colon Smooth Muscle	Colon
42	chr4:148784400-148810800	Weak transcription	Fetal Heart	heart
43	chr4:148784600-148796400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:148785000-148787200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:148785200-148787000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:148785200-148787200	Weak transcription	HSMMtube	muscle
47	chr4:148785400-148796200	Weak transcription	GM12878-XiMat	blood
48	chr4:148785600-148787000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:148785600-148787000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:148785600-148787000	Weak transcription	Osteobl	bone

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