Variant report

Variant	rs12086823
Chromosome Location	chr1:171623871-171623872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10913400	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171614600-171624600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:171620400-171627600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:171621000-171624800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:171621000-171625800	Enhancers	Fetal Stomach	stomach
5	chr1:171621400-171624200	Enhancers	Colon Smooth Muscle	Colon
6	chr1:171621400-171624600	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:171621800-171624000	Weak transcription	Aorta	Aorta
8	chr1:171621800-171624000	Weak transcription	Lung	lung
9	chr1:171622200-171625200	Enhancers	Fetal Lung	lung
10	chr1:171622800-171624800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:171623000-171624200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:171623000-171624200	Flanking Active TSS	HSMMtube	muscle
13	chr1:171623000-171624400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:171623000-171624400	Enhancers	NHLF	lung
15	chr1:171623000-171624600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:171623000-171624800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:171623000-171625000	Enhancers	Fetal Kidney	kidney
18	chr1:171623000-171625400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:171623200-171624000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:171623200-171624200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:171623200-171624200	Flanking Active TSS	Liver	Liver
22	chr1:171623200-171624200	Flanking Active TSS	HSMM	muscle
23	chr1:171623200-171624200	Flanking Active TSS	Osteobl	bone
24	chr1:171623200-171624800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:171623200-171624800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:171623200-171624800	Enhancers	NH-A	brain
27	chr1:171623400-171624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:171623400-171624400	Enhancers	Brain Substantia Nigra	brain
29	chr1:171623400-171625000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:171623400-171625000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:171623400-171625200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:171623400-171625400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:171623400-171626000	Enhancers	Fetal Intestine Large	intestine
34	chr1:171623600-171624000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:171623600-171624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:171623600-171624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:171623600-171624000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:171623600-171624000	Enhancers	HMEC	breast
39	chr1:171623600-171624200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:171623600-171624400	Bivalent Enhancer	HepG2	liver
41	chr1:171623600-171624600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:171623600-171624600	Enhancers	Brain Anterior Caudate	brain
43	chr1:171623600-171624600	Enhancers	Right Atrium	heart
44	chr1:171623600-171624800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:171623600-171624800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:171623600-171624800	Enhancers	Brain Hippocampus Middle	brain
47	chr1:171623600-171624800	Bivalent Enhancer	Fetal Intestine Small	intestine
48	chr1:171623600-171624800	Enhancers	Psoas Muscle	Psoas
49	chr1:171623600-171624800	Enhancers	Spleen	Spleen
50	chr1:171623600-171625000	Enhancers	Ovary	ovary

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