Variant report

Variant	rs12187335
Chromosome Location	chr5:179984485-179984486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179982621..179985082-chr5:179986194..179988848,3	K562	blood:
2	chr5:179921323..179924030-chr5:179984115..179985925,2	K562	blood:

Variant related genes	Relation type
ENSG00000113300	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10069	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10464102	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10903259	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11249721	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11739089	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11739096	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742141	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11953441	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11960481	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12055052	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12188688	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13161254	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13164191	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs13164854	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13173695	0.94[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13177323	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13178018	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13188908	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13189165	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13189348	1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2131812	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34184530	0.88[YRI][hapmap]
rs34325776	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34327222	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34524755	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34693772	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34707414	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34753125	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34916144	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35066026	0.98[ASN][1000 genomes]
rs36021424	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36028994	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36083585	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67209153	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863926	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6876372	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6889526	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896785	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6897380	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897528	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6899301	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71613470	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7701315	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729397	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv1810959	chr5:179945112-179997861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179950200-179992000	Weak transcription	Right Ventricle	heart
2	chr5:179950400-179992400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:179950600-180004000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:179951000-179991800	Weak transcription	Small Intestine	intestine
5	chr5:179959800-179991600	Weak transcription	HMEC	breast
6	chr5:179960000-180000600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:179960200-179991600	Weak transcription	Esophagus	oesophagus
8	chr5:179960200-179998200	Weak transcription	Spleen	Spleen
9	chr5:179960400-179991600	Weak transcription	Gastric	stomach
10	chr5:179961200-179992600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:179961400-179991800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:179961600-179991800	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:179962200-179991800	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:179964000-179992600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:179966800-179987400	Strong transcription	Dnd41	blood
16	chr5:179967600-179991800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:179969200-179985000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:179969600-179991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:179970000-179992200	Weak transcription	HSMM	muscle
20	chr5:179970800-180006600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:179971600-179992000	Weak transcription	HUVEC	blood vessel
22	chr5:179972000-179988600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:179973800-180005200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:179974400-180005800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:179975000-180005800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:179975600-179985200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:179975600-179992000	Weak transcription	Psoas Muscle	Psoas
28	chr5:179975600-180004600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:179976200-179998200	Weak transcription	Fetal Heart	heart
30	chr5:179976200-180007200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:179976600-179988600	Weak transcription	Pancreas	Pancrea
32	chr5:179976800-179984600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:179976800-179985400	Strong transcription	Fetal Thymus	thymus
34	chr5:179977000-179986800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:179978000-179984800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:179978000-179992000	Weak transcription	Colonic Mucosa	Colon
37	chr5:179978000-179992400	Weak transcription	NHEK	skin
38	chr5:179978200-179990600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:179978200-179991000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:179978200-179991800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr5:179978400-179985000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:179978400-179985200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:179978400-179990600	Weak transcription	Brain Substantia Nigra	brain
44	chr5:179978400-179992400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:179978400-179998400	Weak transcription	Aorta	Aorta
46	chr5:179978600-179991800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:179979800-179985400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr5:179980000-179990600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr5:179980200-179991800	Weak transcription	Ovary	ovary
50	chr5:179980400-179984800	Strong transcription	Hela-S3	cervix

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