Variant report

Variant	rs6994212
Chromosome Location	chr8:57891239-57891240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10003	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1044731	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1057409	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11784432	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11995249	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056416	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543933	0.80[ASN][1000 genomes]
rs12546457	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16921401	0.83[AMR][1000 genomes]
rs16921404	0.83[AMR][1000 genomes]
rs16921483	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16921485	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28362578	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2873556	0.83[ASN][1000 genomes]
rs35912151	0.80[ASN][1000 genomes]
rs4570152	0.83[AMR][1000 genomes]
rs55744759	0.83[ASN][1000 genomes]
rs55820553	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56264228	0.83[AMR][1000 genomes]
rs57357857	0.83[AMR][1000 genomes]
rs72647042	0.83[AMR][1000 genomes]
rs72647043	0.83[AMR][1000 genomes]
rs72647048	0.80[ASN][1000 genomes]
rs72647049	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
2	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
3	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
4	chr8:57870800-57892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:57872800-57891800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:57872800-57892800	Strong transcription	Dnd41	blood
7	chr8:57874400-57896000	Weak transcription	Right Ventricle	heart
8	chr8:57874800-57892000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:57874800-57896000	Weak transcription	Small Intestine	intestine
10	chr8:57874800-57903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:57874800-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:57875200-57892400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:57876600-57903200	Weak transcription	Fetal Brain Male	brain
14	chr8:57876600-57904000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:57877200-57905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:57878800-57893400	Weak transcription	Right Atrium	heart
17	chr8:57878800-57895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:57879000-57895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:57879000-57896000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:57879000-57904600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:57879400-57895800	Weak transcription	Gastric	stomach
22	chr8:57879400-57896000	Weak transcription	Aorta	Aorta
23	chr8:57880400-57896000	Weak transcription	Psoas Muscle	Psoas
24	chr8:57880400-57904600	Weak transcription	Fetal Stomach	stomach
25	chr8:57881800-57896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:57883800-57897000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:57884200-57892600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:57884200-57892800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:57884200-57893000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:57884400-57892800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:57884400-57892800	Strong transcription	Fetal Muscle Leg	muscle
32	chr8:57884400-57893200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:57884600-57892800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:57884800-57892800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:57885000-57893000	Strong transcription	Primary T cells from cord blood	blood
36	chr8:57885800-57893000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:57885800-57893800	Strong transcription	HepG2	liver
38	chr8:57886000-57892800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:57886000-57893200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:57886000-57894000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:57886400-57893200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:57886600-57892800	Strong transcription	HSMM	muscle
43	chr8:57886800-57892800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:57887000-57892800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:57887000-57892800	Strong transcription	Fetal Intestine Large	intestine
46	chr8:57887000-57892800	Strong transcription	HMEC	breast
47	chr8:57887200-57892800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr8:57887200-57892800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:57887200-57892800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:57887200-57892800	Strong transcription	Fetal Thymus	thymus

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