Variant report

Variant	rs3812067
Chromosome Location	chr5:179709154-179709155
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	chr5:179707652..179710961-chr5:179712990..179716242,3	K562	blood:
2	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3095944	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.96[ASN][1000 genomes]
rs3095946	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3111517	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6601105	1.00[CEU][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs6601106	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6872544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7729984	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs9968653	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
3	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:179693800-179709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
7	chr5:179696400-179714800	Weak transcription	Fetal Brain Male	brain
8	chr5:179697600-179710800	Strong transcription	Placenta	Placenta
9	chr5:179698400-179710200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:179698400-179710400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr5:179699000-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:179699600-179710600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr5:179699800-179711400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr5:179699800-179712600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:179700000-179711600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr5:179700200-179710800	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:179700600-179712600	Strong transcription	Primary T cells from cord blood	blood
18	chr5:179700800-179711400	Strong transcription	Fetal Thymus	thymus
19	chr5:179701200-179710800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:179701400-179710600	Strong transcription	Fetal Intestine Large	intestine
21	chr5:179701600-179710600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:179701800-179710600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:179702200-179709600	Strong transcription	Left Ventricle	heart
24	chr5:179702400-179709400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:179702400-179714000	Strong transcription	Thymus	Thymus
26	chr5:179702600-179709600	Strong transcription	Fetal Stomach	stomach
27	chr5:179702600-179712200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:179702800-179710600	Strong transcription	Hela-S3	cervix
29	chr5:179703000-179711400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:179703000-179717400	Weak transcription	NHLF	lung
31	chr5:179703400-179714000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:179703600-179709400	Strong transcription	Fetal Muscle Leg	muscle
33	chr5:179703800-179710800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:179703800-179714600	Strong transcription	Dnd41	blood
35	chr5:179704000-179709800	Strong transcription	Brain Angular Gyrus	brain
36	chr5:179704000-179710200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:179704000-179710200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr5:179704000-179710600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:179704000-179711400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:179704000-179712600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr5:179704200-179710600	Strong transcription	Fetal Brain Female	brain
42	chr5:179704200-179714200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr5:179704400-179709400	Weak transcription	Brain Substantia Nigra	brain
44	chr5:179704400-179711400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:179704400-179712400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr5:179704600-179709200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:179704600-179709600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:179704600-179710200	Strong transcription	Ovary	ovary
49	chr5:179704600-179711600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:179704600-179712800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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