Variant report

Variant	rs6655994
Chromosome Location	chr1:221933888-221933889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221919412..221921894-chr1:221932218..221934661,2	K562	blood:
2	chr1:221924699..221928428-chr1:221930772..221933949,5	K562	blood:
3	chr1:221932602..221935280-chr1:221937123..221939979,2	K562	blood:
4	chr1:221915260..221918211-chr1:221931815..221934483,3	MCF-7	breast:
5	chr1:221914943..221918116-chr1:221930387..221938960,9	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10218652	0.94[EUR][1000 genomes]
rs10779456	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10863653	0.92[EUR][1000 genomes]
rs10863654	0.94[EUR][1000 genomes]
rs10863655	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10863656	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11118844	0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11118847	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118848	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11118852	0.82[JPT][hapmap]
rs11118854	0.92[EUR][1000 genomes]
rs11118857	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11118859	0.92[EUR][1000 genomes]
rs11118860	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12070192	0.94[EUR][1000 genomes]
rs12136350	0.91[EUR][1000 genomes]
rs12144586	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12403995	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17010720	0.94[EUR][1000 genomes]
rs4433402	0.94[EUR][1000 genomes]
rs4589119	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4601596	0.91[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4623704	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs55830234	0.80[EUR][1000 genomes]
rs58850477	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66522549	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7516292	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7518806	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr1:221929800-221934600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:221931200-221935800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:221931400-221935200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:221931600-221936400	Enhancers	HUVEC	blood vessel
5	chr1:221931800-221935000	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:221932200-221934400	Weak transcription	Thymus	Thymus
7	chr1:221932200-221934800	Weak transcription	Fetal Thymus	thymus
8	chr1:221932800-221934200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:221932800-221936400	Enhancers	K562	blood
10	chr1:221933200-221934000	Enhancers	Stomach Mucosa	stomach
11	chr1:221933200-221935800	Flanking Active TSS	GM12878-XiMat	blood
12	chr1:221933400-221939200	Weak transcription	HMEC	breast
13	chr1:221933600-221935400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:221933600-221938400	Weak transcription	NHEK	skin
15	chr1:221933800-221934800	Weak transcription	Pancreas	Pancrea
16	chr1:221933800-221939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:221933800-221939200	Weak transcription	Hela-S3	cervix
18	chr1:221933800-221939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:221933800-221945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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