Variant report

Variant	rs73135519
Chromosome Location	chr4:53502137-53502138
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53499405..53502650-chr4:53524294..53527225,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248866	Chromatin interaction
ENSG00000109189	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1053437	1.00[AMR][1000 genomes]
rs17051569	0.83[AMR][1000 genomes]
rs17051574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051581	1.00[AMR][1000 genomes]
rs17051587	0.83[AMR][1000 genomes]
rs17051624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051645	0.83[AMR][1000 genomes]
rs2898678	0.83[AMR][1000 genomes]
rs61704546	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61761593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152438	1.00[AMR][1000 genomes]
rs73152440	0.85[AMR][1000 genomes]
rs73152475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2754049	chr4:53454272-53539672	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv524494	chr4:53459620-53582065	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53456000-53506400	Weak transcription	HUVEC	blood vessel
2	chr4:53463000-53507200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:53464200-53523600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:53468200-53510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:53473000-53506800	Weak transcription	Primary T cells from cord blood	blood
6	chr4:53473600-53507200	Weak transcription	Osteobl	bone
7	chr4:53476000-53502200	Weak transcription	Pancreas	Pancrea
8	chr4:53476000-53507400	Weak transcription	HSMM	muscle
9	chr4:53477600-53510200	Weak transcription	Esophagus	oesophagus
10	chr4:53484600-53508400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:53485800-53507600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:53485800-53508400	Weak transcription	Stomach Mucosa	stomach
13	chr4:53486000-53507200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:53486000-53507200	Weak transcription	Brain Substantia Nigra	brain
15	chr4:53486000-53507200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:53486200-53507200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:53486600-53508800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:53487400-53504800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:53489200-53503000	Weak transcription	Aorta	Aorta
20	chr4:53489200-53507000	Weak transcription	NHEK	skin
21	chr4:53489400-53507200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:53491800-53507000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:53492000-53503400	Weak transcription	Right Ventricle	heart
24	chr4:53492000-53507200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:53492200-53506400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:53492200-53507200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:53492200-53507800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:53492200-53510000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:53492400-53507000	Weak transcription	HSMMtube	muscle
30	chr4:53492400-53507200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:53492600-53507200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:53493200-53510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:53494200-53507000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:53494400-53503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:53494400-53504800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:53494400-53506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:53494400-53509400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:53494400-53510200	Weak transcription	Lung	lung
39	chr4:53494600-53504800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:53494600-53507200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:53494600-53509400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:53495200-53507800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:53495400-53506400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:53495800-53507000	Weak transcription	NHLF	lung
45	chr4:53496000-53505000	Weak transcription	Fetal Brain Female	brain
46	chr4:53496000-53505600	Weak transcription	Psoas Muscle	Psoas
47	chr4:53496000-53507000	Weak transcription	Placenta	Placenta
48	chr4:53496000-53507200	Weak transcription	Brain Anterior Caudate	brain
49	chr4:53496200-53504200	Weak transcription	Primary B cells from cord blood	blood
50	chr4:53496200-53507200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links