Variant report

Variant	rs595307
Chromosome Location	chr5:81043684-81043685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81041105..81043899-chr5:81044992..81047327,2	MCF-7	breast:
2	chr5:81042198..81043973-chr5:81054034..81056633,2	K562	blood:
3	chr5:81043503..81052108-chr5:81144332..81149960,26	MCF-7	breast:
4	chr5:81041366..81043872-chr5:81148506..81150879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249483	Chromatin interaction
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16899099	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406720	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417304	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417590	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447132	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs452349	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877501	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707925	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
3	chr5:81028600-81044200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:81032000-81045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:81032200-81044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:81032200-81045000	Weak transcription	Ovary	ovary
7	chr5:81032200-81045000	Weak transcription	Psoas Muscle	Psoas
8	chr5:81032200-81045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:81032200-81045200	Weak transcription	Esophagus	oesophagus
10	chr5:81032200-81045200	Weak transcription	Pancreas	Pancrea
11	chr5:81032600-81044800	Weak transcription	HSMM	muscle
12	chr5:81035000-81044200	Weak transcription	Thymus	Thymus
13	chr5:81035400-81045000	Weak transcription	Left Ventricle	heart
14	chr5:81035600-81044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:81036600-81044200	Weak transcription	Fetal Heart	heart
16	chr5:81036800-81044600	Weak transcription	Fetal Kidney	kidney
17	chr5:81037200-81045000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:81037600-81044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:81038600-81044400	Weak transcription	K562	blood
20	chr5:81038600-81045200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:81039800-81045000	Weak transcription	Brain Angular Gyrus	brain
22	chr5:81040600-81044000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:81041200-81044200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:81041200-81044600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:81041400-81044400	Enhancers	Primary T cells from cord blood	blood
26	chr5:81041600-81043800	Flanking Active TSS	GM12878-XiMat	blood
27	chr5:81041600-81044400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:81041600-81044400	Active TSS	Fetal Brain Female	brain
29	chr5:81041800-81044200	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:81041800-81044800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr5:81042000-81043800	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr5:81042200-81045000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:81042200-81045000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:81042800-81044400	Enhancers	NHLF	lung
35	chr5:81043000-81044400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:81043000-81044400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:81043000-81044400	Enhancers	Brain Anterior Caudate	brain
38	chr5:81043000-81044600	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:81043000-81044800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:81043000-81044800	Enhancers	Colon Smooth Muscle	Colon
41	chr5:81043000-81045000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr5:81043000-81045400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:81043000-81047600	Active TSS	Fetal Thymus	thymus
44	chr5:81043200-81044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:81043200-81044800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:81043200-81044800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr5:81043400-81043800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:81043400-81043800	Weak transcription	Brain Germinal Matrix	brain
49	chr5:81043400-81044000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr5:81043400-81044200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links