Variant report

Variant	rs550625627
Chromosome Location	chr4:56215655-56215656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
4	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
5	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
6	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:

Variant related genes	Relation type
ENSG00000249700	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000251111	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	nsv966270	chr4:56215138-56221281	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213200-56219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
3	chr4:56213400-56217000	Weak transcription	Fetal Stomach	stomach
4	chr4:56213400-56217200	Weak transcription	Lung	lung
5	chr4:56213400-56223800	Weak transcription	Fetal Heart	heart
6	chr4:56213400-56225400	Weak transcription	Spleen	Spleen
7	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:56213600-56219200	Weak transcription	Primary T cells from cord blood	blood
9	chr4:56213600-56221600	Weak transcription	HMEC	breast
10	chr4:56213600-56223000	Weak transcription	Esophagus	oesophagus
11	chr4:56213600-56223000	Weak transcription	HSMM	muscle
12	chr4:56213600-56224000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:56213600-56225600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
15	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:56213600-56242600	Weak transcription	Gastric	stomach
18	chr4:56213800-56217800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:56213800-56218600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:56213800-56221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:56213800-56223000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:56213800-56225200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:56213800-56225600	Weak transcription	Left Ventricle	heart
24	chr4:56213800-56227000	Weak transcription	Placenta	Placenta
25	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:56213800-56233600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
31	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
32	chr4:56214000-56217400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:56214000-56223400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:56214000-56224600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:56214000-56225600	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:56214000-56229800	Weak transcription	Liver	Liver
37	chr4:56214000-56229800	Weak transcription	Fetal Thymus	thymus
38	chr4:56214000-56229800	Weak transcription	Thymus	Thymus
39	chr4:56214000-56230200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:56214000-56231000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:56214000-56237800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
43	chr4:56214200-56215800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:56214200-56218000	Weak transcription	Adipose Nuclei	Adipose
45	chr4:56214200-56222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:56214200-56224800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:56214600-56219800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:56214600-56224200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:56214600-56230200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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