Variant report

Variant	rs316215
Chromosome Location	chr5:96500400-96500401
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	chr5:96381723..96383480-chr5:96500362..96502420,2	K562	blood:
2	chr5:96078120..96080024-chr5:96498248..96500707,2	K562	blood:

Variant related genes	Relation type
ENSG00000249180	Chromatin interaction
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10072369	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12515176	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1363943	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2216709	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544773	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316183	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316184	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316185	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316186	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316191	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316192	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316193	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316194	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316197	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs316200	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35824066	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3906410	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs43497	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72777622	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9314188	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
4	nsv830413	chr5:96450582-96509294	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription 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	24 gene(s)	inside rSNPs	diseases
7	nsv882391	chr5:96496189-96533469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv882392	chr5:96496189-96546238	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers 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 target site	15 gene(s)	inside rSNPs	diseases
9	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96478400-96507800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96492200-96510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:96493600-96501600	Weak transcription	NHLF	lung
4	chr5:96494000-96502800	Weak transcription	Psoas Muscle	Psoas
5	chr5:96494200-96501000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr5:96494200-96501400	Weak transcription	Brain Anterior Caudate	brain
7	chr5:96494200-96503000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:96494200-96506600	Weak transcription	Ovary	ovary
9	chr5:96494400-96501400	Strong transcription	Liver	Liver
10	chr5:96494400-96501800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr5:96494400-96502800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:96494400-96503200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:96494400-96505200	Weak transcription	Fetal Brain Male	brain
14	chr5:96494400-96510600	Weak transcription	Gastric	stomach
15	chr5:96494400-96515200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:96494400-96518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:96494600-96500800	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:96494600-96500800	Strong transcription	HSMM	muscle
19	chr5:96494600-96501000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:96494600-96502800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:96494600-96502800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:96494600-96505200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:96494600-96516600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:96494800-96500400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:96494800-96502600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr5:96494800-96514400	Weak transcription	Fetal Heart	heart
27	chr5:96494800-96515200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:96494800-96516400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:96494800-96516400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:96494800-96516400	Strong transcription	Fetal Thymus	thymus
31	chr5:96494800-96516600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:96495000-96500400	Weak transcription	Stomach Mucosa	stomach
33	chr5:96495000-96504000	Strong transcription	Primary T cells from cord blood	blood
34	chr5:96495000-96516000	Strong transcription	Dnd41	blood
35	chr5:96495000-96516200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:96495200-96501400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:96495200-96502200	Strong transcription	GM12878-XiMat	blood
38	chr5:96495200-96510200	Weak transcription	Right Ventricle	heart
39	chr5:96495200-96515200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:96495200-96515400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr5:96495200-96516000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr5:96495200-96516800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:96495200-96518000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:96495400-96516600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:96495600-96500400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:96495600-96501200	Strong transcription	A549	lung
47	chr5:96495600-96506600	Weak transcription	Lung	lung
48	chr5:96495600-96509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:96495600-96515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:96495600-96515800	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links