Variant report

Variant	rs639593
Chromosome Location	chr1:184823996-184823997
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184823250..184825779-chr1:184941412..184943063,2	K562	blood:
2	chr1:184811650..184814378-chr1:184821332..184824850,3	K562	blood:
3	chr1:184823503..184826399-chr1:184827732..184830343,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1465106	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180046	0.89[CEU][hapmap]
rs234110	0.89[CEU][hapmap]
rs234634	0.89[CEU][hapmap]
rs234635	0.89[CEU][hapmap]
rs234642	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234647	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234649	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234651	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234652	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234653	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234654	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234655	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234656	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234664	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234680	0.89[CEU][hapmap]
rs234682	0.89[CEU][hapmap]
rs234683	0.89[CEU][hapmap]
rs28927681	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs35545276	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704242	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845472	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41321748	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs489435	0.80[EUR][1000 genomes]
rs55637494	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55710473	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55757920	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56076998	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278505	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374790	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569243	1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs603160	1.00[CEU][hapmap];0.90[GIH][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs642027	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs657826	0.82[EUR][1000 genomes]
rs7528487	0.85[EUR][1000 genomes]
rs7528626	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap]

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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv508677	chr1:184778620-184825302	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv3843	chr1:184798670-184858114	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184797200-184830000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:184808200-184831400	Weak transcription	Gastric	stomach
3	chr1:184808400-184836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:184808400-184836000	Weak transcription	NHEK	skin
5	chr1:184808800-184834800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:184813200-184826000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:184814000-184826200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:184814200-184826000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:184814400-184825800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:184814400-184834600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
12	chr1:184817600-184835800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:184821600-184825800	Weak transcription	Aorta	Aorta
14	chr1:184821600-184835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:184821600-184842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:184821800-184826400	Weak transcription	Right Atrium	heart
17	chr1:184821800-184829800	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:184821800-184836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:184822000-184828000	Weak transcription	GM12878-XiMat	blood
20	chr1:184822000-184832800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:184822600-184824600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:184822800-184824800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:184822800-184824800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:184822800-184824800	Enhancers	Fetal Heart	heart
25	chr1:184823000-184828800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:184823200-184824200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:184823200-184824200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:184823200-184824200	Enhancers	NH-A	brain
29	chr1:184823200-184824200	Enhancers	NHDF-Ad	bronchial
30	chr1:184823200-184824600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:184823200-184824600	Enhancers	HUVEC	blood vessel
32	chr1:184823200-184826600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:184823400-184824000	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:184823400-184824200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:184823400-184825000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:184823400-184825800	Weak transcription	Left Ventricle	heart
37	chr1:184823400-184826200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:184823600-184828800	Weak transcription	Psoas Muscle	Psoas
39	chr1:184823800-184824000	Enhancers	Right Ventricle	heart
40	chr1:184823800-184824200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:184823800-184825600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:184823800-184828600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:184823800-184828600	Weak transcription	HSMMtube	muscle

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