Variant report

Variant	rs1423567
Chromosome Location	chr5:96322981-96322982
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96269269..96275353-chr5:96319693..96327052,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs59959433	1.00[AMR][1000 genomes]
rs73135411	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135415	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135418	1.00[AMR][1000 genomes]
rs73135420	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135421	1.00[AMR][1000 genomes]
rs73135423	1.00[AMR][1000 genomes]
rs73135424	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73137399	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139226	1.00[AMR][1000 genomes]
rs73139235	1.00[AMR][1000 genomes]
rs73139238	1.00[AMR][1000 genomes]
rs73139248	1.00[AMR][1000 genomes]
rs73139255	1.00[AMR][1000 genomes]
rs73141126	1.00[AMR][1000 genomes]
rs7728347	1.00[YRI][hapmap]

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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	28 gene(s)	inside rSNPs	diseases
8	nsv969268	chr5:96317607-96327820	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304600-96329600	Weak transcription	Fetal Brain Female	brain
2	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
3	chr5:96304800-96346600	Weak transcription	Lung	lung
4	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
5	chr5:96305400-96334200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:96313200-96325400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:96313200-96330000	Weak transcription	HSMMtube	muscle
8	chr5:96313400-96342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:96313400-96342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
11	chr5:96314200-96343600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr5:96314200-96344000	Strong transcription	Primary B cells from cord blood	blood
13	chr5:96314200-96347600	Strong transcription	Fetal Thymus	thymus
14	chr5:96314400-96343800	Strong transcription	Dnd41	blood
15	chr5:96314800-96343200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:96314800-96343800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:96315000-96331000	Strong transcription	Placenta	Placenta
18	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:96315600-96326000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:96315600-96329200	Weak transcription	Brain Germinal Matrix	brain
21	chr5:96315600-96329600	Weak transcription	Esophagus	oesophagus
22	chr5:96315600-96329600	Weak transcription	HepG2	liver
23	chr5:96315600-96330400	Weak transcription	Spleen	Spleen
24	chr5:96315600-96335600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:96315600-96353400	Weak transcription	Pancreas	Pancrea
26	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:96316000-96323000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:96316000-96329600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:96316000-96330000	Weak transcription	Brain Anterior Caudate	brain
30	chr5:96316000-96338400	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:96316000-96360000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:96316200-96335800	Weak transcription	NHLF	lung
33	chr5:96316400-96333600	Weak transcription	HUVEC	blood vessel
34	chr5:96316400-96336000	Weak transcription	Colonic Mucosa	Colon
35	chr5:96316400-96346600	Weak transcription	NH-A	brain
36	chr5:96317000-96325800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr5:96317200-96332600	Strong transcription	GM12878-XiMat	blood
38	chr5:96317400-96323400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:96317400-96334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:96318000-96325800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:96318000-96330000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:96318400-96325600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:96319000-96325800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:96319600-96326800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:96319800-96331600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:96320000-96330400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:96320000-96357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:96320600-96327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:96320600-96330600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:96320800-96332200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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