Variant report

Variant	rs4496331
Chromosome Location	chr2:152804446-152804447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152803348..152805157-chr2:152810668..152812299,2	K562	blood:
2	chr2:152683277..152685736-chr2:152803172..152805723,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10930837	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10930853	0.85[AMR][1000 genomes]
rs12463883	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1356732	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1474172	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs1519710	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs16830434	1.00[CEU][hapmap]
rs16830435	1.00[CEU][hapmap]
rs16830450	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs16830539	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3754532	1.00[CEU][hapmap]
rs4563220	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6730903	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72621650	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7562260	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571876	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7580901	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs7581344	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7597915	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs867544	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs883157	1.00[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes]
rs883170	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs952339	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152799600-152804800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:152799800-152804800	Enhancers	HMEC	breast
3	chr2:152801200-152805000	Enhancers	Placenta	Placenta
4	chr2:152801800-152804600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:152801800-152805000	Enhancers	NHEK	skin
6	chr2:152802000-152809800	Weak transcription	HepG2	liver
7	chr2:152802800-152805000	Enhancers	Fetal Muscle Leg	muscle
8	chr2:152802800-152805000	Enhancers	Fetal Thymus	thymus
9	chr2:152803000-152805400	Enhancers	Brain Substantia Nigra	brain
10	chr2:152803600-152804600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:152803600-152804600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:152803600-152804600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:152803600-152804600	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr2:152803600-152804600	Enhancers	Lung	lung
15	chr2:152803600-152804600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr2:152803600-152804600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:152803600-152804800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:152803600-152804800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:152803600-152804800	Weak transcription	Fetal Brain Female	brain
20	chr2:152803600-152805200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:152803800-152804600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr2:152803800-152804800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:152803800-152805000	Enhancers	Fetal Lung	lung
24	chr2:152804000-152804600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:152804000-152804600	Flanking Active TSS	Aorta	Aorta
26	chr2:152804000-152805000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:152804000-152805400	Enhancers	Esophagus	oesophagus
28	chr2:152804200-152804600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:152804200-152804600	Enhancers	Gastric	stomach
30	chr2:152804200-152804600	Enhancers	Left Ventricle	heart
31	chr2:152804200-152804600	Enhancers	Right Ventricle	heart
32	chr2:152804400-152804600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:152804400-152804600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:152804400-152804600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:152804400-152804600	Weak transcription	Brain Angular Gyrus	brain
36	chr2:152804400-152804600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:152804400-152804600	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:152804400-152804600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:152804400-152804600	Active TSS	Stomach Smooth Muscle	stomach
40	chr2:152804400-152804600	Enhancers	Hela-S3	cervix
41	chr2:152804400-152804800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:152804400-152804800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:152804400-152804800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:152804400-152804800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:152804400-152804800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr2:152804400-152804800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:152804400-152805000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:152804400-152805400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:152804400-152805600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:152804400-152805800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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