Variant report

Variant	rs6425518
Chromosome Location	chr1:171936522-171936523
allele	A/G
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	JUN	chr1:171936019-171936556	HUVEC	blood vessel:	n/a	chr1:171936313-171936321 chr1:171936313-171936321 chr1:171936314-171936321 chr1:171936312-171936322 chr1:171936312-171936322

Variant related genes	Relation type
DNM3	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1022541	0.86[EUR][1000 genomes]
rs1040517	0.81[EUR][1000 genomes]
rs10737338	0.80[EUR][1000 genomes]
rs10753202	0.81[EUR][1000 genomes]
rs10753203	0.81[EUR][1000 genomes]
rs10753204	0.81[EUR][1000 genomes]
rs10798705	0.82[EUR][1000 genomes]
rs10798722	0.82[EUR][1000 genomes]
rs10798725	0.82[EUR][1000 genomes]
rs10798726	0.84[EUR][1000 genomes]
rs10913908	0.81[EUR][1000 genomes]
rs12021814	0.86[EUR][1000 genomes]
rs12024869	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12025243	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12029015	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12040254	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12047542	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12747663	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1535301	0.86[EUR][1000 genomes]
rs1555100	0.84[EUR][1000 genomes]
rs1972340	0.87[EUR][1000 genomes]
rs1980488	0.84[EUR][1000 genomes]
rs2145383	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906981	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4596936	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4916235	0.82[EUR][1000 genomes]
rs4916404	0.82[EUR][1000 genomes]
rs4916411	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6425456	0.81[EUR][1000 genomes]
rs6425468	0.84[EUR][1000 genomes]
rs6425484	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6660011	0.81[EUR][1000 genomes]
rs6665335	0.82[EUR][1000 genomes]
rs6679341	0.84[EUR][1000 genomes]
rs6686260	0.87[EUR][1000 genomes]
rs6689231	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6690848	0.87[EUR][1000 genomes]
rs71523161	0.87[EUR][1000 genomes]
rs7526653	0.81[EUR][1000 genomes]
rs7554700	0.84[EUR][1000 genomes]
rs7554935	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171935000-171936800	Enhancers	HUVEC	blood vessel
2	chr1:171935000-171938600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:171935000-171938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:171935000-171939000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:171935000-171939400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:171935200-171936600	Enhancers	HMEC	breast
7	chr1:171935200-171937200	Enhancers	Brain Hippocampus Middle	brain
8	chr1:171935200-171937200	Enhancers	Brain Substantia Nigra	brain
9	chr1:171935200-171938000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:171935200-171939000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:171935200-171939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:171935200-171939200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:171935400-171936600	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:171935600-171936800	Enhancers	Hela-S3	cervix
15	chr1:171935800-171936600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:171936000-171937000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:171936000-171937200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:171936000-171937400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:171936000-171937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:171936000-171938400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:171936200-171938400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:171936400-171936600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:171936400-171936800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:171936400-171936800	Weak transcription	Fetal Kidney	kidney
25	chr1:171936400-171938000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:171936400-171938200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:171936400-171938800	Enhancers	Primary hematopoietic stem cells	blood

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