Variant report

Variant	rs17139554
Chromosome Location	chr7:18710815-18710816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10240305	1.00[JPT][hapmap]
rs11505303	1.00[JPT][hapmap]
rs11977498	1.00[CHB][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11982882	1.00[JPT][hapmap]
rs17139344	1.00[YRI][hapmap]
rs17139557	1.00[CHB][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17139619	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17150249	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs212667	1.00[JPT][hapmap]
rs4605958	1.00[JPT][hapmap]
rs751185	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7777856	1.00[JPT][hapmap]
rs7812153	1.00[JPT][hapmap]
rs812395	1.00[JPT][hapmap]

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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
2	chr7:18678400-18721200	Weak transcription	Brain Substantia Nigra	brain
3	chr7:18688400-18715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:18688800-18746400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:18689400-18713200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:18696200-18715000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:18698000-18743400	Weak transcription	HSMMtube	muscle
8	chr7:18699600-18776000	Weak transcription	Aorta	Aorta
9	chr7:18703600-18713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:18707600-18711000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:18708600-18711200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:18709200-18711600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:18709800-18715800	Strong transcription	Primary B cells from cord blood	blood
14	chr7:18710600-18711000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:18710600-18711400	Enhancers	NHEK	skin
16	chr7:18710600-18711600	Enhancers	HMEC	breast
17	chr7:18710800-18711600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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