Variant report

Variant	rs12083192
Chromosome Location	chr1:9787949-9787950
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	chr1:9778823..9786788-chr1:9787182..9791476,8	K562	blood:
2	chr1:9787700..9789917-chr1:9790535..9793046,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12059243	0.83[AFR][1000 genomes]
rs12072320	0.83[AFR][1000 genomes]
rs12084163	0.94[AFR][1000 genomes]
rs12354258	0.94[AFR][1000 genomes]
rs12354385	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6658971	0.93[AFR][1000 genomes]
rs6663532	0.80[AFR][1000 genomes]
rs7514164	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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 target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
2	chr1:9772600-9788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:9777800-9790200	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:9777800-9790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:9778400-9793400	Weak transcription	Fetal Kidney	kidney
6	chr1:9778600-9788400	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr1:9778600-9790600	Weak transcription	Small Intestine	intestine
8	chr1:9779000-9788600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:9780000-9790800	Weak transcription	Hela-S3	cervix
10	chr1:9780600-9792600	Strong transcription	Dnd41	blood
11	chr1:9781200-9790200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:9781200-9813200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr1:9781600-9800600	Weak transcription	Fetal Brain Male	brain
14	chr1:9781800-9788200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:9781800-9793600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:9782000-9788400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:9782200-9792800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:9782800-9788400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:9783800-9788600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:9783800-9789800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:9783800-9799600	Strong transcription	Fetal Brain Female	brain
22	chr1:9784000-9789000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:9784000-9789000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:9784000-9789000	Weak transcription	NHDF-Ad	bronchial
25	chr1:9784000-9790600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:9784000-9793400	Strong transcription	Brain Germinal Matrix	brain
27	chr1:9784000-9797200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:9784000-9815400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:9784200-9788200	Weak transcription	Pancreas	Pancrea
30	chr1:9784200-9788600	Weak transcription	Aorta	Aorta
31	chr1:9784200-9788600	Weak transcription	Brain Substantia Nigra	brain
32	chr1:9784200-9789000	Weak transcription	NHLF	lung
33	chr1:9784200-9789200	Weak transcription	Fetal Lung	lung
34	chr1:9784200-9789400	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:9784200-9792600	Strong transcription	Fetal Stomach	stomach
36	chr1:9784200-9796800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:9784200-9807400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:9784200-9815800	Strong transcription	Fetal Intestine Small	intestine
39	chr1:9784400-9788000	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:9784400-9788200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:9784400-9789000	Weak transcription	Liver	Liver
42	chr1:9784400-9790600	Strong transcription	Spleen	Spleen
43	chr1:9784400-9791400	Strong transcription	Fetal Intestine Large	intestine
44	chr1:9784800-9788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:9784800-9788800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:9784800-9789000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:9785000-9788200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:9785200-9788200	Weak transcription	HMEC	breast
49	chr1:9785200-9788400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:9785200-9789000	Weak transcription	K562	blood

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