Variant report

Variant	rs6860901
Chromosome Location	chr5:127871750-127871751
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	chr5:127871072..127873305-chr5:127875022..127876615,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10035972	0.85[CHD][hapmap]
rs1004965	0.85[CHD][hapmap]
rs10055140	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10073062	0.83[CHB][hapmap]
rs11241959	0.85[CHD][hapmap]
rs11241966	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1858079	0.85[CHD][hapmap]
rs4331947	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4373322	0.82[ASN][1000 genomes]
rs4836373	0.85[CHD][hapmap]
rs55670004	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595827	0.85[CHD][hapmap]
rs6595829	0.85[CHD][hapmap]
rs6595835	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs6595839	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6865322	1.00[ASW][hapmap];0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6890614	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6892983	0.81[CHD][hapmap]
rs764368	0.85[CHD][hapmap]
rs7712942	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7713256	0.80[CHD][hapmap]
rs7719223	0.85[CHD][hapmap]
rs7726680	0.85[CHD][hapmap]
rs7732639	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019560	chr5:127814656-127873680	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv537895	chr5:127814656-127873680	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6860901	FBN2	cis	lung	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127840200-127872000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:127853200-127872400	Weak transcription	Osteobl	bone
3	chr5:127854000-127872000	Weak transcription	Ovary	ovary
4	chr5:127861000-127871800	Weak transcription	Fetal Lung	lung
5	chr5:127862600-127872000	Weak transcription	NHLF	lung
6	chr5:127863200-127872000	Weak transcription	HUVEC	blood vessel
7	chr5:127863600-127872000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:127864600-127871800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:127867200-127871800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:127868400-127871800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:127868600-127871800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:127868800-127871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:127869200-127871800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:127869200-127871800	Weak transcription	Right Ventricle	heart
15	chr5:127869200-127872000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:127869200-127875000	Active TSS	Fetal Heart	heart
17	chr5:127870400-127871800	Active TSS	NHDF-Ad	bronchial
18	chr5:127870400-127872200	Active TSS	Placenta	Placenta
19	chr5:127870400-127872400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:127870600-127871800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:127870800-127871800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:127870800-127871800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:127870800-127871800	Weak transcription	Left Ventricle	heart
24	chr5:127870800-127871800	Enhancers	NH-A	brain
25	chr5:127870800-127872000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:127870800-127872000	Active TSS	Fetal Stomach	stomach
27	chr5:127870800-127872000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:127870800-127875200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:127871000-127871800	Active TSS	A549	lung
30	chr5:127871000-127872000	Enhancers	HMEC	breast
31	chr5:127871000-127875400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:127871200-127871800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:127871200-127872000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:127871200-127872200	Active TSS	Fetal Kidney	kidney
35	chr5:127871200-127872800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr5:127871200-127873800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:127871200-127875400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:127871400-127871800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:127871400-127871800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr5:127871400-127871800	Active TSS	Fetal Muscle Leg	muscle
41	chr5:127871400-127872000	Genic enhancers	NHEK	skin
42	chr5:127871600-127871800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:127871600-127871800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:127871600-127871800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr5:127871600-127871800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:127871600-127872000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:127871600-127872200	Bivalent Enhancer	Fetal Brain Male	brain
48	chr5:127871600-127872400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
49	chr5:127871600-127872600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr5:127871600-127873200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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