Variant report

Variant	rs7709350
Chromosome Location	chr5:1789841-1789842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1780452..1785296-chr5:1786065..1791336,6	K562	blood:
2	chr5:1787274..1790091-chr5:1886036..1887816,2	MCF-7	breast:
3	chr5:1778781..1780293-chr5:1788536..1790670,2	MCF-7	breast:
4	chr5:1784823..1787433-chr5:1788783..1790988,2	MCF-7	breast:
5	chr5:1787780..1790282-chr5:1881765..1885003,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249326	Chromatin interaction
ENSG00000249116	Chromatin interaction
ENSG00000113430	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10037336	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045048	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051882	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058270	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062133	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070488	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078791	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085011	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475110	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475112	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475113	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505118	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505119	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361288	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884830	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901194	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28402979	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573163	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609097	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883061	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464685	0.88[EUR][1000 genomes]
rs58926651	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59515251	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60876329	0.84[EUR][1000 genomes]
rs6555013	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861074	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861795	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862138	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862330	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862520	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864000	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866992	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875087	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880349	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881273	0.84[EUR][1000 genomes]
rs6881623	0.85[EUR][1000 genomes]
rs6885220	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888753	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895439	0.92[EUR][1000 genomes]
rs6899016	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734916	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734940	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734941	1.00[ASN][1000 genomes]
rs7707424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711522	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718031	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723998	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725178	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924462	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9312955	0.96[EUR][1000 genomes];1.00[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:51 , 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	chr5:1786800-1790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:1786800-1796000	Weak transcription	Gastric	stomach
6	chr5:1788400-1792200	Enhancers	GM12878-XiMat	blood
7	chr5:1788600-1791000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:1789000-1790000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:1789000-1790000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:1789000-1790800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:1789000-1791600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:1789000-1795200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr5:1789200-1790000	Enhancers	Brain Germinal Matrix	brain
14	chr5:1789200-1790000	Enhancers	NHLF	lung
15	chr5:1789200-1790600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:1789200-1790600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:1789200-1790800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:1789200-1791000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:1789200-1791000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:1789200-1791000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr5:1789200-1792800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:1789200-1796400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:1789200-1796400	Weak transcription	Esophagus	oesophagus
24	chr5:1789400-1790200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:1789400-1790400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:1789400-1790400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:1789400-1790400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:1789400-1791000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:1789400-1791200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:1789400-1792800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr5:1789400-1795600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:1789600-1790200	Active TSS	Fetal Brain Male	brain
33	chr5:1789600-1790200	Flanking Active TSS	HMEC	breast
34	chr5:1789600-1790400	Enhancers	Fetal Heart	heart
35	chr5:1789600-1790600	Flanking Active TSS	NHEK	skin
36	chr5:1789600-1790800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:1789600-1791400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr5:1789800-1790000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:1789800-1790000	Flanking Active TSS	HSMM	muscle
40	chr5:1789800-1790000	Enhancers	HSMMtube	muscle
41	chr5:1789800-1790200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:1789800-1790200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:1789800-1790400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:1789800-1790400	Flanking Active TSS	NHDF-Ad	bronchial
45	chr5:1789800-1790800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:1789800-1790800	Flanking Active TSS	HUVEC	blood vessel
47	chr5:1789800-1791000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:1789800-1791000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:1789800-1791000	Flanking Active TSS	NH-A	brain
50	chr5:1789800-1791000	Flanking Active TSS	Osteobl	bone

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