Variant report

Variant	rs2196392
Chromosome Location	chr7:15555412-15555413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10232565	0.82[EUR][1000 genomes]
rs10232624	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232626	0.81[EUR][1000 genomes]
rs10255042	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256413	0.93[EUR][1000 genomes]
rs10807779	0.94[EUR][1000 genomes]
rs12699727	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699731	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12699732	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1992024	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1992025	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2196394	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2217866	0.98[EUR][1000 genomes]
rs4555981	0.81[EUR][1000 genomes]
rs6944542	0.87[EUR][1000 genomes]
rs6950435	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7801625	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[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	nsv1032569	chr7:14905287-15597069	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1028314	chr7:15336831-15555412	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1032866	chr7:15336831-15622515	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1031116	chr7:15428343-15568587	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv887729	chr7:15444355-15580078	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv887730	chr7:15482111-15580078	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv887731	chr7:15486895-15580078	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv887732	chr7:15509843-15573306	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv887733	chr7:15521358-15573306	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv887734	chr7:15521358-15580078	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15554400-15556800	Enhancers	HUVEC	blood vessel
2	chr7:15554400-15557000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:15554600-15555600	Enhancers	Colon Smooth Muscle	Colon
4	chr7:15554800-15555600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:15554800-15555600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:15554800-15557600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:15555000-15556000	Weak transcription	Brain Substantia Nigra	brain
8	chr7:15555200-15555600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:15555200-15555600	Enhancers	Fetal Lung	lung
10	chr7:15555200-15556200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:15555200-15556200	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:15555200-15556400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:15555400-15555600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:15555400-15555600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr7:15555400-15555600	Flanking Active TSS	Osteobl	bone
16	chr7:15555400-15555800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:15555400-15556400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:15555400-15556600	Enhancers	NHDF-Ad	bronchial
19	chr7:15555400-15557200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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