Variant report

Variant	rs6944824
Chromosome Location	chr7:150124359-150124360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10275627	1.00[CEU][hapmap]
rs10952256	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333724	1.00[ASN][1000 genomes]
rs12703063	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12703068	1.00[CEU][hapmap]
rs1524335	1.00[ASN][1000 genomes]
rs1880315	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996981	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030681	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030682	1.00[ASN][1000 genomes]
rs2888634	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725894	1.00[CEU][hapmap]
rs4725899	1.00[ASN][1000 genomes]
rs6960284	1.00[ASN][1000 genomes]
rs6960822	1.00[ASN][1000 genomes]
rs6962146	1.00[ASN][1000 genomes]
rs6970196	1.00[CEU][hapmap]
rs6973612	1.00[CEU][hapmap]

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	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150104400-150131600	Weak transcription	Right Atrium	heart
2	chr7:150108400-150125000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:150109200-150124400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:150109800-150124400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:150110200-150142200	Weak transcription	Gastric	stomach
6	chr7:150111200-150124400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:150111200-150124400	Weak transcription	Thymus	Thymus
8	chr7:150112200-150124800	Weak transcription	Spleen	Spleen
9	chr7:150117800-150124400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:150118600-150124400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:150120000-150124400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:150122600-150124400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:150123000-150125600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:150123800-150125800	Enhancers	Dnd41	blood
15	chr7:150124000-150124600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:150124000-150125800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:150124200-150125600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:150124200-150126400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:150124200-150126800	Enhancers	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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