Variant report

Variant	rs56404059
Chromosome Location	chr1:150737090-150737091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150550688..150552369-chr1:150735871..150738707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143384	Chromatin interaction

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

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

rs_ID	r²[population]
rs11582333	1.00[EUR][1000 genomes]
rs28521412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41272019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72700845	1.00[EUR][1000 genomes]
rs72700851	1.00[EUR][1000 genomes]
rs72704611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72704690	1.00[AMR][1000 genomes];1.00[EUR][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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv872419	chr1:150699199-150738759	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1008381	chr1:150721254-150745558	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150712000-150737800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:150720600-150737800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:150723000-150738000	Weak transcription	Right Ventricle	heart
4	chr1:150724400-150737800	Weak transcription	Aorta	Aorta
5	chr1:150729200-150737600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:150730800-150738000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:150732200-150737200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
8	chr1:150732400-150737400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
9	chr1:150734600-150737200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:150734600-150737600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr1:150734800-150738400	Active TSS	GM12878-XiMat	blood
12	chr1:150735600-150738600	Active TSS	Rectal Smooth Muscle	rectum
13	chr1:150735800-150737800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:150736200-150737200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:150736200-150737200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr1:150736200-150737200	Enhancers	Small Intestine	intestine
17	chr1:150736200-150737400	Enhancers	Fetal Thymus	thymus
18	chr1:150736200-150737400	Enhancers	Lung	lung
19	chr1:150736200-150737800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:150736200-150737800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr1:150736200-150737800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:150736200-150738400	Active TSS	Brain Anterior Caudate	brain
23	chr1:150736200-150738600	Active TSS	Colonic Mucosa	Colon
24	chr1:150736400-150737200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:150736400-150737400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:150736400-150737400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr1:150736400-150737400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr1:150736400-150738200	Active TSS	Brain Hippocampus Middle	brain
29	chr1:150736400-150738200	Enhancers	NH-A	brain
30	chr1:150736400-150738600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:150736600-150737400	Weak transcription	Placenta	Placenta
32	chr1:150736600-150737600	Enhancers	Fetal Kidney	kidney
33	chr1:150736600-150737600	Enhancers	Fetal Stomach	stomach
34	chr1:150736600-150738400	Active TSS	Duodenum Mucosa	Duodenum
35	chr1:150736600-150738400	Active TSS	Right Atrium	heart
36	chr1:150736800-150737200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:150736800-150737400	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr1:150736800-150737800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:150737000-150737200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:150737000-150737200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:150737000-150737200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:150737000-150737200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:150737000-150737200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:150737000-150737200	Flanking Active TSS	Fetal Lung	lung
45	chr1:150737000-150737200	Enhancers	Pancreas	Pancrea
46	chr1:150737000-150737200	Enhancers	Spleen	Spleen
47	chr1:150737000-150737200	Active TSS	A549	lung
48	chr1:150737000-150737200	Flanking Active TSS	HUVEC	blood vessel
49	chr1:150737000-150737400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:150737000-150737400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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