Variant report

Variant	rs4328683
Chromosome Location	chr2:48590270-48590271
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	chr2:48589573..48591686-chr2:48594924..48597026,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10184644	0.87[AMR][1000 genomes]
rs10185212	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11677398	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12477901	1.00[CEU][hapmap]
rs13386132	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3811520	1.00[CEU][hapmap]
rs4371401	1.00[CEU][hapmap]
rs4429520	1.00[CEU][hapmap]
rs4430989	1.00[CEU][hapmap]
rs4464333	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4952913	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4953574	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4953584	1.00[CEU][hapmap]
rs4953585	0.86[EUR][1000 genomes]
rs4953588	1.00[CEU][hapmap]
rs6545040	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6545043	1.00[CEU][hapmap]
rs6545044	1.00[CEU][hapmap]
rs6715766	1.00[CEU][hapmap]
rs6756820	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7355307	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7557764	0.86[EUR][1000 genomes]
rs7577850	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7584673	0.87[AMR][1000 genomes]
rs7608588	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
2	chr2:48572200-48597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:48573600-48604000	Weak transcription	Ovary	ovary
4	chr2:48574200-48602000	Weak transcription	Gastric	stomach
5	chr2:48574600-48602000	Weak transcription	Small Intestine	intestine
6	chr2:48576200-48597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:48576200-48602000	Weak transcription	Lung	lung
8	chr2:48576600-48595600	Weak transcription	Fetal Brain Female	brain
9	chr2:48576600-48602000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:48577800-48592400	Weak transcription	Right Atrium	heart
11	chr2:48577800-48602000	Weak transcription	Fetal Kidney	kidney
12	chr2:48577800-48603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:48578600-48591000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:48578600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:48579000-48595000	Weak transcription	Esophagus	oesophagus
16	chr2:48579000-48595000	Weak transcription	Fetal Stomach	stomach
17	chr2:48579200-48593000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:48579200-48595400	Weak transcription	Fetal Intestine Large	intestine
19	chr2:48580400-48595200	Weak transcription	HSMMtube	muscle
20	chr2:48580600-48601800	Weak transcription	Hela-S3	cervix
21	chr2:48580800-48591800	Weak transcription	NH-A	brain
22	chr2:48580800-48599800	Weak transcription	NHEK	skin
23	chr2:48580800-48602000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:48580800-48602000	Weak transcription	Osteobl	bone
25	chr2:48580800-48604000	Weak transcription	Aorta	Aorta
26	chr2:48581000-48593400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:48581200-48590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:48581400-48592400	Weak transcription	NHDF-Ad	bronchial
29	chr2:48581400-48600800	Weak transcription	Spleen	Spleen
30	chr2:48581400-48601800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:48581400-48602000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:48581400-48602000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:48581400-48608000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:48581800-48602000	Weak transcription	Pancreas	Pancrea
35	chr2:48581800-48602000	Weak transcription	Right Ventricle	heart
36	chr2:48581800-48604800	Weak transcription	Psoas Muscle	Psoas
37	chr2:48582000-48600800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:48584400-48590400	Weak transcription	Adipose Nuclei	Adipose
39	chr2:48584400-48590600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:48584400-48602000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:48584600-48601000	Weak transcription	Fetal Lung	lung
42	chr2:48584800-48593600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:48584800-48604400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:48585000-48600600	Weak transcription	HUVEC	blood vessel
45	chr2:48585600-48598000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:48586000-48595800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:48586000-48596000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:48586000-48602000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:48586800-48590600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:48587000-48598400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links