Variant report

Variant	rs6544994
Chromosome Location	chr2:47763369-47763370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11896864	0.82[ASN][1000 genomes]
rs17502941	0.98[ASN][1000 genomes]
rs6544992	0.80[CHB][hapmap]
rs6722911	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs748780	0.94[ASN][1000 genomes]
rs7572456	0.81[ASN][1000 genomes]
rs7575486	0.88[ASN][1000 genomes]

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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:47748800-47772800	Weak transcription	Gastric	stomach
3	chr2:47749000-47771000	Weak transcription	Ovary	ovary
4	chr2:47756400-47771400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:47757600-47772400	Weak transcription	Right Atrium	heart
6	chr2:47760600-47763400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:47760600-47763400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:47760600-47763400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:47760600-47763600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:47760600-47763800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:47760600-47763800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:47760600-47764400	Enhancers	NHLF	lung
13	chr2:47760800-47763600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:47760800-47763800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:47760800-47763800	Enhancers	HUVEC	blood vessel
16	chr2:47760800-47764000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:47760800-47764400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:47761400-47763800	Enhancers	NH-A	brain
19	chr2:47761400-47764400	Enhancers	Osteobl	bone
20	chr2:47761400-47768800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:47761600-47768200	Weak transcription	Fetal Stomach	stomach
22	chr2:47762000-47770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:47762000-47778400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:47762000-47784800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:47762200-47763400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:47762200-47767000	Weak transcription	K562	blood
27	chr2:47762400-47764400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:47762400-47766600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:47762600-47763600	Enhancers	NHEK	skin
30	chr2:47762600-47770400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:47762800-47763400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:47762800-47763400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:47762800-47763600	Enhancers	NHDF-Ad	bronchial
34	chr2:47762800-47770200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:47762800-47778800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:47763000-47763600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:47763000-47763800	Enhancers	HSMM	muscle
38	chr2:47763000-47764200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:47763000-47764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:47763200-47763400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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