Variant report

Variant	rs3821322
Chromosome Location	chr2:152214424-152214425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10432476	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677200	0.96[ASN][1000 genomes]
rs11677249	0.96[ASN][1000 genomes]
rs11681547	0.96[ASN][1000 genomes]
rs12466578	0.95[ASN][1000 genomes]
rs13023318	0.96[ASN][1000 genomes]
rs13382242	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34601164	0.96[ASN][1000 genomes]
rs34970801	0.96[ASN][1000 genomes]
rs3771895	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3911277	0.96[ASN][1000 genomes]
rs4664025	0.96[ASN][1000 genomes]
rs4664026	0.96[ASN][1000 genomes]
rs4664031	0.94[ASN][1000 genomes]
rs61581451	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152212000-152215200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:152212200-152214600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:152213400-152214600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:152213400-152214800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:152213400-152214800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:152213400-152215800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:152213600-152215000	Flanking Active TSS	Osteobl	bone
8	chr2:152213600-152215400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:152213600-152215600	Active TSS	Fetal Stomach	stomach
10	chr2:152213600-152215800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:152213600-152215800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:152213600-152215800	Active TSS	NHLF	lung
13	chr2:152213800-152214600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:152213800-152214600	Active TSS	NHDF-Ad	bronchial
15	chr2:152213800-152215400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:152214000-152214600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:152214000-152215000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:152214000-152215200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:152214000-152215400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:152214000-152215400	Active TSS	Brain Hippocampus Middle	brain
21	chr2:152214000-152215600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:152214000-152215600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:152214000-152215800	Active TSS	Primary B cells from cord blood	blood
24	chr2:152214000-152215800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:152214000-152215800	Active TSS	NH-A	brain
26	chr2:152214200-152214800	Active TSS	Adipose Nuclei	Adipose
27	chr2:152214200-152215000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr2:152214200-152215000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:152214200-152215400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:152214200-152215400	Active TSS	Right Atrium	heart
31	chr2:152214200-152215400	Active TSS	HSMMtube	muscle
32	chr2:152214200-152215800	Active TSS	Fetal Muscle Leg	muscle
33	chr2:152214200-152216800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:152214200-152220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:152214400-152214600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:152214400-152214600	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:152214400-152214800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr2:152214400-152214800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:152214400-152214800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:152214400-152215000	Active TSS	Primary hematopoietic stem cells	blood
41	chr2:152214400-152215200	Weak transcription	Brain Anterior Caudate	brain
42	chr2:152214400-152215200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:152214400-152220200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:152214400-152220200	Weak transcription	Brain Substantia Nigra	brain

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