Variant report

Variant	rs73024103
Chromosome Location	chr5:1798700-1798701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:1795858-1798914	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:1795250-1798842	HepG2	liver:	n/a	n/a
3	HCFC1	chr5:1797935-1802723	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:1795342-1801944	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:1777867..1779395-chr5:1796687..1799686,2	K562	blood:
2	chr5:1793765..1806799-chr5:1879445..1889322,45	MCF-7	breast:
3	chr5:1796457..1805482-chr5:1878036..1885786,21	MCF-7	breast:
4	chr5:1769932..1772068-chr5:1795879..1799269,3	MCF-7	breast:
5	chr5:1745339..1747054-chr5:1797446..1799846,2	K562	blood:

Variant related genes	Relation type
NDUFS6	TF binding region
ENSG00000249116	Chromatin interaction
ENSG00000249326	Chromatin interaction
ENSG00000113430	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57202905	1.00[AMR][1000 genomes]
rs57774576	1.00[AMR][1000 genomes]
rs73026121	1.00[AMR][1000 genomes]
rs73026131	1.00[AMR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1791000-1798800	Weak transcription	Fetal Brain Male	brain
2	chr5:1791000-1800200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:1793200-1798800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:1794400-1799200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:1794600-1799200	Weak transcription	Small Intestine	intestine
6	chr5:1794800-1798800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:1795800-1799000	Strong transcription	Fetal Intestine Small	intestine
8	chr5:1796000-1798800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:1796000-1798800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:1796000-1798800	Strong transcription	Brain Substantia Nigra	brain
11	chr5:1796000-1799000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:1796200-1798800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:1796200-1798800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:1796200-1798800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:1796400-1798800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:1796400-1798800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:1796400-1798800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:1796400-1798800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:1796400-1798800	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr5:1796400-1798800	Strong transcription	NHEK	skin
21	chr5:1796400-1799000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:1796400-1799000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:1796600-1798800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr5:1796600-1798800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:1796600-1798800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:1796600-1798800	Genic enhancers	Stomach Smooth Muscle	stomach
27	chr5:1796800-1798800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:1796800-1798800	Genic enhancers	Pancreas	Pancrea
29	chr5:1796800-1798800	Strong transcription	HSMMtube	muscle
30	chr5:1796800-1798800	Strong transcription	Osteobl	bone
31	chr5:1796800-1799000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:1796800-1799000	Strong transcription	Fetal Intestine Large	intestine
33	chr5:1796800-1799000	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr5:1796800-1799000	Genic enhancers	Lung	lung
35	chr5:1796800-1799200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:1797000-1798800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:1797000-1798800	Genic enhancers	Adipose Nuclei	Adipose
38	chr5:1797000-1799000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:1797000-1799000	Genic enhancers	Fetal Muscle Leg	muscle
40	chr5:1797200-1799000	Genic enhancers	Placenta	Placenta
41	chr5:1797400-1798800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:1797400-1798800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr5:1797400-1798800	Genic enhancers	Brain Inferior Temporal Lobe	brain
44	chr5:1797400-1799200	Genic enhancers	Spleen	Spleen
45	chr5:1797600-1798800	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr5:1797600-1798800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:1797600-1798800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:1797600-1798800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:1797600-1798800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:1797600-1798800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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