Variant report

Variant	rs1047343
Chromosome Location	chr4:56238117-56238118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56236823..56239564-chr4:56243563..56245351,2	MCF-7	breast:
2	chr4:56235460..56238150-chr4:56260336..56262058,2	MCF-7	breast:
3	chr4:56237917..56240536-chr4:56260724..56263321,2	K562	blood:

Variant related genes	Relation type
ENSG00000249700	Chromatin interaction
ENSG00000134851	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10517345	1.00[AMR][1000 genomes]
rs1552522	1.00[AMR][1000 genomes]
rs17085783	1.00[AMR][1000 genomes]
rs17085803	1.00[AMR][1000 genomes]
rs17085857	1.00[AMR][1000 genomes]
rs17085864	1.00[AMR][1000 genomes]
rs17085882	1.00[AMR][1000 genomes]
rs17085885	1.00[AMR][1000 genomes]
rs2412650	1.00[AMR][1000 genomes]
rs34028624	1.00[AMR][1000 genomes]
rs34822003	1.00[AMR][1000 genomes]
rs58578647	1.00[AMR][1000 genomes]
rs73151822	1.00[AMR][1000 genomes]
rs73151893	1.00[AMR][1000 genomes]
rs73153621	1.00[AMR][1000 genomes]
rs73153661	1.00[AMR][1000 genomes]
rs73153688	1.00[AMR][1000 genomes]
rs73816271	1.00[AMR][1000 genomes]
rs73816274	1.00[AMR][1000 genomes]
rs7657206	1.00[AMR][1000 genomes]
rs7659053	1.00[AMR][1000 genomes]
rs7661096	1.00[AMR][1000 genomes]
rs7662129	1.00[AMR][1000 genomes]
rs7663749	1.00[AMR][1000 genomes]
rs7686016	1.00[AMR][1000 genomes]
rs7696080	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213600-56242600	Weak transcription	Gastric	stomach
2	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
3	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
4	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
5	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:56219400-56238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:56220800-56241400	Weak transcription	Primary T cells from cord blood	blood
8	chr4:56225800-56238400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:56225800-56244800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:56225800-56244800	Weak transcription	Stomach Mucosa	stomach
11	chr4:56226000-56238400	Weak transcription	Osteobl	bone
12	chr4:56226000-56238600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:56226000-56240400	Weak transcription	HSMM	muscle
14	chr4:56226000-56241200	Weak transcription	Esophagus	oesophagus
15	chr4:56226000-56245000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:56226000-56245000	Weak transcription	HSMMtube	muscle
17	chr4:56227800-56238400	Weak transcription	Placenta	Placenta
18	chr4:56228000-56244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:56228400-56245400	Weak transcription	K562	blood
20	chr4:56228400-56251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:56230400-56242000	Weak transcription	Ovary	ovary
22	chr4:56230600-56239200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:56230600-56239600	Weak transcription	Fetal Brain Female	brain
24	chr4:56230600-56240200	Weak transcription	Fetal Lung	lung
25	chr4:56230600-56241200	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:56230600-56245200	Weak transcription	Fetal Intestine Small	intestine
27	chr4:56231800-56238400	Weak transcription	Thymus	Thymus
28	chr4:56232000-56238200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:56232000-56241800	Weak transcription	Lung	lung
30	chr4:56232000-56247600	Weak transcription	Spleen	Spleen
31	chr4:56233200-56238200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:56233200-56238400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:56233200-56241800	Weak transcription	Fetal Stomach	stomach
34	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:56233400-56239400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:56233800-56238600	Weak transcription	NH-A	brain
37	chr4:56234000-56244800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:56234200-56238400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:56234200-56238600	Weak transcription	Brain Anterior Caudate	brain
40	chr4:56234200-56238600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:56235800-56247600	Weak transcription	Aorta	Aorta
42	chr4:56236000-56240400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:56236400-56238600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:56236400-56240200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:56236400-56242200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:56236400-56248400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:56236600-56238400	Weak transcription	Brain Angular Gyrus	brain
48	chr4:56236600-56239800	Weak transcription	Fetal Thymus	thymus
49	chr4:56236800-56238400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:56236800-56239800	Weak transcription	Fetal Muscle Trunk	muscle

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