Variant report

Variant	rs4671218
Chromosome Location	chr2:54710181-54710182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10171331	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10205013	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12477221	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17039554	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17045917	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087854	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4233950	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4561702	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4635562	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4671933	0.82[EUR][1000 genomes]
rs4671940	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671943	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58779052	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545409	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718276	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6754429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72618660	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618661	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72618662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7599380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004645	chr2:54686497-54718440	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1008888	chr2:54690695-54715300	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv438348	chr2:54693204-54714066	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv817939	chr2:54693204-54718181	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54701600-54715400	Weak transcription	Fetal Kidney	kidney
2	chr2:54702200-54712200	Enhancers	Fetal Heart	heart
3	chr2:54702400-54712000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:54703600-54710400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:54704400-54710400	Enhancers	Right Atrium	heart
6	chr2:54705000-54710400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr2:54705200-54712400	Enhancers	Brain Hippocampus Middle	brain
8	chr2:54706800-54711600	Enhancers	HSMMtube	muscle
9	chr2:54707000-54710400	Enhancers	Fetal Muscle Leg	muscle
10	chr2:54707200-54710600	Enhancers	Brain Angular Gyrus	brain
11	chr2:54707200-54711200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:54707200-54711400	Enhancers	Ovary	ovary
13	chr2:54707200-54712000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:54707200-54712200	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:54707200-54712400	Enhancers	Brain Substantia Nigra	brain
16	chr2:54707600-54717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:54707800-54710200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:54707800-54712000	Enhancers	Psoas Muscle	Psoas
19	chr2:54707800-54720800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:54708000-54712400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:54708200-54710200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:54708200-54710400	Enhancers	Left Ventricle	heart
23	chr2:54708200-54711800	Weak transcription	Stomach Mucosa	stomach
24	chr2:54708400-54710400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:54708800-54710600	Enhancers	Fetal Stomach	stomach
26	chr2:54708800-54711000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:54708800-54712000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:54708800-54712000	Genic enhancers	Fetal Lung	lung
29	chr2:54709000-54710400	Enhancers	A549	lung
30	chr2:54709000-54711400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:54709000-54712200	Enhancers	Brain Anterior Caudate	brain
32	chr2:54709000-54712400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:54709200-54710200	Weak transcription	Liver	Liver
34	chr2:54709200-54710200	Enhancers	HepG2	liver
35	chr2:54709200-54710800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:54709200-54711800	Enhancers	Spleen	Spleen
37	chr2:54709200-54712000	Enhancers	Right Ventricle	heart
38	chr2:54709400-54710200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:54709400-54710600	Enhancers	Fetal Brain Male	brain
40	chr2:54709600-54710200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:54709600-54710200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:54709600-54710200	Enhancers	HSMM	muscle
43	chr2:54709600-54710200	Enhancers	K562	blood
44	chr2:54709600-54710200	Enhancers	NH-A	brain
45	chr2:54709600-54710200	Enhancers	NHLF	lung
46	chr2:54709600-54710200	Enhancers	Osteobl	bone
47	chr2:54709600-54710600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr2:54709600-54710800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:54709600-54710800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:54709600-54710800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links