Variant report

Variant	rs17123636
Chromosome Location	chr1:85692025-85692026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85665362..85671529-chr1:85685487..85692910,10	MCF-7	breast:
2	chr1:85689720..85692131-chr1:85719135..85721500,2	MCF-7	breast:
3	chr1:85665411..85671906-chr1:85683759..85698338,27	MCF-7	breast:
4	chr1:85689750..85692180-chr1:85716712..85719328,3	K562	blood:
5	chr1:85664799..85667009-chr1:85689577..85692364,3	K562	blood:
6	chr1:85690285..85692339-chr1:85702623..85704270,2	K562	blood:
7	chr1:85690423..85692028-chr1:85723835..85725530,2	K562	blood:

Variant related genes	Relation type
ENSG00000162642	Chromatin interaction
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12060262	1.00[AMR][1000 genomes]
rs17122301	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122993	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656799	0.84[AFR][1000 genomes]
rs6675935	1.00[AMR][1000 genomes]
rs7540784	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
2	chr1:85688600-85692200	Enhancers	Fetal Intestine Small	intestine
3	chr1:85689400-85696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:85690000-85692200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:85690000-85692200	Enhancers	Fetal Intestine Large	intestine
6	chr1:85690000-85692200	Enhancers	Fetal Kidney	kidney
7	chr1:85690000-85692800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:85690400-85692200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:85690400-85692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:85690600-85692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:85690800-85692200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:85690800-85692200	Enhancers	Osteobl	bone
13	chr1:85690800-85696000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:85691200-85692200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:85691200-85692200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:85691400-85692200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:85691400-85692200	Enhancers	Fetal Lung	lung
18	chr1:85691400-85693000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:85691400-85696200	Weak transcription	Right Ventricle	heart
20	chr1:85691600-85694800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:85691600-85695200	Weak transcription	Pancreas	Pancrea
22	chr1:85691600-85695200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:85691600-85695600	Weak transcription	Left Ventricle	heart
24	chr1:85691600-85696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:85691600-85696200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:85691600-85696400	Weak transcription	Right Atrium	heart
27	chr1:85691800-85692200	Enhancers	NHEK	skin
28	chr1:85691800-85693200	Enhancers	Fetal Heart	heart
29	chr1:85691800-85697000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:85692000-85692200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:85692000-85692200	Enhancers	K562	blood
32	chr1:85692000-85694200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:85692000-85694600	Weak transcription	Stomach Mucosa	stomach
34	chr1:85692000-85695200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:85692000-85695400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:85692000-85695600	Weak transcription	Gastric	stomach
37	chr1:85692000-85696000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:85692000-85697400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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