Variant report

Variant	rs6878719
Chromosome Location	chr5:1790797-1790798
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1780452..1785296-chr5:1786065..1791336,6	K562	blood:
2	chr5:1784823..1787433-chr5:1788783..1790988,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10043826	0.85[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10866525	0.91[ASN][1000 genomes]
rs13154141	0.82[ASN][1000 genomes]
rs4975731	0.83[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4975733	0.83[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs7449137	0.90[ASN][1000 genomes]
rs750532	0.96[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7724821	1.00[ASN][1000 genomes]
rs904757	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs904758	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs904760	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
4	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1785200-1795000	Weak transcription	Spleen	Spleen
2	chr5:1785200-1796000	Weak transcription	Thymus	Thymus
3	chr5:1786200-1790800	Weak transcription	Fetal Thymus	thymus
4	chr5:1786800-1796000	Weak transcription	Gastric	stomach
5	chr5:1788400-1792200	Enhancers	GM12878-XiMat	blood
6	chr5:1788600-1791000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:1789000-1790800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:1789000-1791600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:1789000-1795200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr5:1789200-1790800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:1789200-1791000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:1789200-1791000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:1789200-1791000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr5:1789200-1792800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:1789200-1796400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:1789200-1796400	Weak transcription	Esophagus	oesophagus
17	chr5:1789400-1791000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:1789400-1791200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:1789400-1792800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr5:1789400-1795600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:1789600-1790800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:1789600-1791400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr5:1789800-1790800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:1789800-1790800	Flanking Active TSS	HUVEC	blood vessel
25	chr5:1789800-1791000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:1789800-1791000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:1789800-1791000	Flanking Active TSS	NH-A	brain
28	chr5:1789800-1791000	Flanking Active TSS	Osteobl	bone
29	chr5:1789800-1792800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:1790000-1790800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:1790000-1790800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:1790000-1790800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr5:1790000-1791000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:1790000-1791000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:1790000-1791000	Enhancers	Fetal Brain Female	brain
36	chr5:1790000-1791000	Flanking Active TSS	NHLF	lung
37	chr5:1790000-1791200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:1790000-1792800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:1790000-1792800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr5:1790200-1790800	Enhancers	Adipose Nuclei	Adipose
41	chr5:1790200-1791000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:1790200-1791000	Enhancers	Fetal Brain Male	brain
43	chr5:1790200-1791000	Enhancers	Fetal Muscle Trunk	muscle
44	chr5:1790200-1791000	Enhancers	Fetal Stomach	stomach
45	chr5:1790200-1791400	Enhancers	HMEC	breast
46	chr5:1790200-1792400	Enhancers	Primary T cells from cord blood	blood
47	chr5:1790200-1793200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:1790200-1795600	Enhancers	Fetal Muscle Leg	muscle
49	chr5:1790200-1796200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:1790400-1790800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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