Variant report

Variant	rs73151855
Chromosome Location	chr4:56300582-56300583
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	chr4:56300038..56301691-chr4:56304307..56306421,3	K562	blood:
2	chr4:56211315..56214213-chr4:56299558..56303630,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128039	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs73147878	1.00[AMR][1000 genomes]
rs73149362	1.00[AMR][1000 genomes]
rs73149762	1.00[AMR][1000 genomes]
rs73149770	1.00[AMR][1000 genomes]
rs73149795	1.00[AMR][1000 genomes]
rs73149797	1.00[AMR][1000 genomes]
rs73149801	1.00[AMR][1000 genomes]
rs73151846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151884	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1011722	chr4:56261349-56325600	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56265600-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:56268800-56326000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:56269000-56311400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:56274600-56332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:56275800-56302200	Strong transcription	Fetal Thymus	thymus
6	chr4:56276000-56302400	Strong transcription	Dnd41	blood
7	chr4:56276000-56320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:56276200-56304400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:56276200-56310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:56276600-56303400	Strong transcription	Osteobl	bone
11	chr4:56276600-56305000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr4:56277400-56302400	Strong transcription	HSMM	muscle
13	chr4:56277400-56306000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:56277600-56301800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:56277600-56305000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:56277800-56302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:56278200-56301000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:56279000-56321800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:56280000-56304800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:56280400-56301000	Strong transcription	GM12878-XiMat	blood
21	chr4:56280600-56301400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:56280600-56302000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:56280600-56302200	Strong transcription	Primary B cells from cord blood	blood
24	chr4:56280600-56303400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr4:56280600-56305000	Strong transcription	Placenta	Placenta
26	chr4:56280600-56305200	Strong transcription	Adipose Nuclei	Adipose
27	chr4:56280800-56304800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr4:56280800-56311000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:56281000-56302200	Strong transcription	NH-A	brain
30	chr4:56281000-56303200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr4:56281600-56303600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:56281600-56304600	Strong transcription	Liver	Liver
33	chr4:56285800-56304600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:56287000-56304600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:56288400-56318400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:56289400-56301000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:56289400-56301400	Weak transcription	Fetal Brain Male	brain
38	chr4:56289400-56301800	Strong transcription	NHEK	skin
39	chr4:56289400-56304600	Strong transcription	HMEC	breast
40	chr4:56289800-56301800	Strong transcription	A549	lung
41	chr4:56290200-56300800	Weak transcription	Right Ventricle	heart
42	chr4:56290200-56301400	Weak transcription	Gastric	stomach
43	chr4:56290200-56301400	Weak transcription	Pancreas	Pancrea
44	chr4:56290400-56301000	Weak transcription	Esophagus	oesophagus
45	chr4:56290400-56301400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:56290400-56304600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:56290600-56301000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:56290800-56301000	Weak transcription	Fetal Intestine Small	intestine
49	chr4:56290800-56301000	Weak transcription	Spleen	Spleen
50	chr4:56290800-56301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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