Variant report

Variant	rs10477683
Chromosome Location	chr5:127669973-127669974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127664970..127667943-chr5:127669467..127671261,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10038028	0.81[EUR][1000 genomes]
rs10040416	1.00[ASN][1000 genomes]
rs10041869	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10044959	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10046007	1.00[ASN][1000 genomes]
rs10055617	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10057231	1.00[ASN][1000 genomes]
rs10057405	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057855	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10059301	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10062686	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063393	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10067405	1.00[ASN][1000 genomes]
rs10070076	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071920	1.00[ASN][1000 genomes]
rs10074194	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10074198	1.00[ASN][1000 genomes]
rs10076728	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477684	1.00[JPT][hapmap]
rs10478811	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519994	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11950890	1.00[ASN][1000 genomes]
rs11951790	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11951921	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11952130	1.00[ASN][1000 genomes]
rs11955447	1.00[ASN][1000 genomes]
rs13360784	1.00[ASN][1000 genomes]
rs1396477	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1561006	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17164115	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17608692	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17676426	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1848501	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1978439	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063248	1.00[ASN][1000 genomes]
rs28579194	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28800517	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374748	1.00[JPT][hapmap]
rs3792871	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792873	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3816905	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3909897	0.85[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4492151	1.00[ASN][1000 genomes]
rs55733883	1.00[ASN][1000 genomes]
rs56228613	1.00[ASN][1000 genomes]
rs59535791	1.00[ASN][1000 genomes]
rs59820839	1.00[ASN][1000 genomes]
rs6867183	1.00[ASN][1000 genomes]
rs6873360	1.00[JPT][hapmap]
rs6881856	0.83[ASN][1000 genomes]
rs6883276	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6893195	0.86[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7356632	1.00[ASN][1000 genomes]
rs7700287	0.83[ASN][1000 genomes]
rs7719113	1.00[ASN][1000 genomes]
rs7731176	1.00[ASN][1000 genomes]
rs9327476	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989548	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs989549	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10477683	FBN2	cis	Thyroid	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:127657400-127685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:127658000-127683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:127659200-127693600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:127659200-127693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:127660600-127683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:127660600-127687000	Weak transcription	Fetal Brain Female	brain
9	chr5:127661000-127675800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:127661200-127674800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr5:127661200-127675600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:127661200-127683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:127661200-127693000	Weak transcription	NHLF	lung
14	chr5:127661200-127693600	Strong transcription	Placenta	Placenta
15	chr5:127661800-127675000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:127661800-127683600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:127662000-127674400	Weak transcription	Fetal Intestine Small	intestine
18	chr5:127662000-127681400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:127662400-127674800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:127662400-127675800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:127663200-127670000	Weak transcription	HUVEC	blood vessel
22	chr5:127663200-127675400	Weak transcription	Fetal Intestine Large	intestine
23	chr5:127664200-127673200	Weak transcription	NH-A	brain
24	chr5:127664600-127670200	Weak transcription	Ovary	ovary
25	chr5:127664600-127671400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:127664600-127673200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:127664600-127678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:127664600-127682000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:127665400-127674600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:127665400-127676600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:127666600-127675000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:127666800-127674800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:127666800-127676400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:127667400-127670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:127667400-127670000	Weak transcription	Fetal Lung	lung
36	chr5:127667400-127675600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:127667600-127670000	Weak transcription	Fetal Kidney	kidney
38	chr5:127667600-127670200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:127667600-127670800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:127667600-127672000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:127667800-127673400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:127668400-127673400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:127668400-127676800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:127668600-127671800	Strong transcription	NHEK	skin
45	chr5:127668600-127675600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:127668800-127675800	Strong transcription	Fetal Muscle Leg	muscle
47	chr5:127668800-127681200	Weak transcription	Gastric	stomach
48	chr5:127669200-127675000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:127669400-127671800	Strong transcription	Fetal Stomach	stomach
50	chr5:127669400-127672400	Strong transcription	HMEC	breast

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