Variant report

Variant	rs2363012
Chromosome Location	chr1:155817466-155817467
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	chr1:155815806..155819878-chr1:155826192..155829116,4	MCF-7	breast:
2	chr1:155817444..155818042-chr13:53712458..53713136,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1094462	0.80[EUR][1000 genomes]
rs11803678	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13374129	0.80[EUR][1000 genomes]
rs13376121	1.00[EUR][1000 genomes]
rs13376235	1.00[EUR][1000 genomes]
rs1624846	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16837037	0.80[EUR][1000 genomes]
rs16837063	1.00[EUR][1000 genomes]
rs17370773	0.97[EUR][1000 genomes]
rs1749415	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1749417	0.84[AMR][1000 genomes]
rs1749421	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1765284	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2477541	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2686255	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28460554	0.87[AFR][1000 genomes]
rs28574887	0.80[EUR][1000 genomes]
rs35044707	0.80[EUR][1000 genomes]
rs4253908	0.84[AMR][1000 genomes]
rs4612618	0.80[EUR][1000 genomes]
rs4971065	1.00[EUR][1000 genomes]
rs4971106	1.00[EUR][1000 genomes]
rs56758819	0.80[EUR][1000 genomes]
rs59706606	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59791187	0.80[EUR][1000 genomes]
rs6684460	0.81[AMR][1000 genomes]
rs682020	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs708612	0.84[AMR][1000 genomes]
rs73001021	0.80[EUR][1000 genomes]
rs7530726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822016	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822018	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822019	0.80[EUR][1000 genomes]
rs822020	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822022	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822488	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs822489	0.82[AFR][1000 genomes]
rs822495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822497	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822523	1.00[EUR][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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155783600-155823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:155787600-155822000	Weak transcription	Esophagus	oesophagus
3	chr1:155789600-155822000	Weak transcription	Fetal Brain Male	brain
4	chr1:155792200-155822000	Weak transcription	Pancreas	Pancrea
5	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
6	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:155792600-155822800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:155793400-155820200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:155795200-155817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:155796800-155821200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:155796800-155822800	Weak transcription	Small Intestine	intestine
12	chr1:155798000-155822000	Weak transcription	Aorta	Aorta
13	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
14	chr1:155804600-155821600	Weak transcription	NHDF-Ad	bronchial
15	chr1:155808000-155826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:155810000-155825200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:155810400-155818400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:155810400-155825400	Strong transcription	Fetal Stomach	stomach
19	chr1:155810600-155825400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:155810800-155817800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:155811000-155818200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:155811400-155817600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:155811400-155825000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:155811800-155818000	Strong transcription	Fetal Intestine Large	intestine
25	chr1:155812400-155825400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:155812600-155817600	Strong transcription	Fetal Brain Female	brain
27	chr1:155812600-155818200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr1:155812800-155818400	Strong transcription	NHEK	skin
29	chr1:155812800-155819000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:155812800-155825400	Strong transcription	Fetal Thymus	thymus
31	chr1:155813000-155817800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:155813000-155818400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:155813000-155818600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:155813000-155825400	Strong transcription	Thymus	Thymus
35	chr1:155813200-155818400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:155813200-155818800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:155813200-155826200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:155813400-155817800	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:155813400-155817800	Strong transcription	Dnd41	blood
40	chr1:155813400-155818600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:155813400-155819000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:155813400-155821200	Weak transcription	Ovary	ovary
43	chr1:155813600-155817600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:155813600-155818400	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:155813600-155819400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:155813600-155826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:155813800-155826000	Weak transcription	Right Ventricle	heart
48	chr1:155814000-155818600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:155814200-155817600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:155814400-155818800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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