Variant report

Variant	rs838987
Chromosome Location	chr1:120176127-120176128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120169996..120174289-chr1:120174706..120179786,6	MCF-7	breast:
2	chr1:120174871..120178397-chr1:120178450..120180303,3	K562	blood:
3	chr1:120174001..120176369-chr1:120189431..120193664,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs347904	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs347909	0.88[EUR][1000 genomes]
rs376910	0.88[EUR][1000 genomes]
rs431441	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7531516	0.86[ASN][1000 genomes]
rs838986	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838989	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS 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 target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120163600-120188400	Weak transcription	Hela-S3	cervix
2	chr1:120165800-120189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:120168400-120187000	Weak transcription	K562	blood
4	chr1:120169000-120178400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:120169400-120178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:120169400-120184400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:120172800-120177400	Enhancers	Fetal Kidney	kidney
8	chr1:120174400-120176200	Flanking Active TSS	Fetal Heart	heart
9	chr1:120174400-120176600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:120174600-120176200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:120174600-120176400	Enhancers	GM12878-XiMat	blood
12	chr1:120174600-120177000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:120174600-120177000	Enhancers	Left Ventricle	heart
14	chr1:120174600-120177000	Enhancers	Psoas Muscle	Psoas
15	chr1:120174800-120176800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:120174800-120176800	Enhancers	Right Atrium	heart
17	chr1:120174800-120177000	Enhancers	Fetal Stomach	stomach
18	chr1:120174800-120177000	Enhancers	Ovary	ovary
19	chr1:120174800-120177200	Enhancers	Colon Smooth Muscle	Colon
20	chr1:120174800-120182000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:120174800-120186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:120175000-120177000	Enhancers	Adipose Nuclei	Adipose
23	chr1:120175000-120178600	Weak transcription	Esophagus	oesophagus
24	chr1:120175000-120178600	Weak transcription	Small Intestine	intestine
25	chr1:120175000-120181800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:120175000-120182000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:120175000-120182000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:120175000-120183000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:120175200-120176400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:120175200-120176600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:120175200-120176800	Enhancers	Osteobl	bone
32	chr1:120175200-120177200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:120175200-120177200	Enhancers	HepG2	liver
34	chr1:120175200-120178400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:120175200-120178400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:120175200-120178600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:120175200-120179200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:120175200-120180200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:120175200-120180200	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:120175200-120183000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:120175200-120188200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:120175400-120176400	Weak transcription	Brain Germinal Matrix	brain
43	chr1:120175400-120176400	Enhancers	Fetal Lung	lung
44	chr1:120175400-120176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:120175400-120176600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:120175400-120178400	Weak transcription	NHEK	skin
47	chr1:120175400-120178600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:120175400-120178600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:120175400-120178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:120175400-120178800	Weak transcription	Gastric	stomach

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