Variant report

Variant	rs642027
Chromosome Location	chr1:184810494-184810495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184808544..184811513-chr1:184821245..184823009,2	K562	blood:
2	chr1:184808770..184811423-chr1:184825832..184828352,2	K562	blood:
3	chr1:184810241..184812906-chr1:184849891..184851725,2	K562	blood:
4	chr1:184808544..184812531-chr1:184819592..184823009,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10911637	1.00[JPT][hapmap]
rs12094196	1.00[JPT][hapmap]
rs12096214	1.00[JPT][hapmap]
rs16823413	1.00[JPT][hapmap]
rs180046	0.89[CEU][hapmap]
rs234110	0.89[CEU][hapmap]
rs234634	0.89[CEU][hapmap]
rs234635	0.89[CEU][hapmap]
rs234647	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs234651	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234652	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234653	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234654	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234656	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs234680	0.89[CEU][hapmap]
rs234682	0.89[CEU][hapmap]
rs234683	0.89[CEU][hapmap]
rs28927681	1.00[CEU][hapmap]
rs35779894	1.00[JPT][hapmap]
rs41321748	1.00[CEU][hapmap];0.90[GIH][hapmap]
rs489435	1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511033	0.88[ASN][1000 genomes]
rs538337	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs569243	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639593	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]
rs641658	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs657826	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528626	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	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184793000-184813000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:184795400-184822600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:184797200-184830000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:184800600-184820800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:184801000-184813400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:184801800-184821000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:184806600-184812600	Weak transcription	GM12878-XiMat	blood
8	chr1:184807800-184821000	Weak transcription	Aorta	Aorta
9	chr1:184808000-184811000	Weak transcription	Fetal Heart	heart
10	chr1:184808000-184813400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:184808000-184823400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:184808200-184821000	Weak transcription	Left Ventricle	heart
13	chr1:184808200-184821400	Weak transcription	Right Ventricle	heart
14	chr1:184808200-184831400	Weak transcription	Gastric	stomach
15	chr1:184808400-184811800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:184808400-184812000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:184808400-184812400	Weak transcription	Hela-S3	cervix
18	chr1:184808400-184813000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:184808400-184821000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:184808400-184821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:184808400-184823200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:184808400-184836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:184808400-184836000	Weak transcription	NHEK	skin
24	chr1:184808600-184812800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:184808800-184812600	Weak transcription	Psoas Muscle	Psoas
26	chr1:184808800-184813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:184808800-184820800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:184808800-184821000	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:184808800-184834800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:184809200-184811400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:184809200-184814200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:184809200-184814400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:184809400-184810600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:184809400-184811200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:184809400-184813000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:184809400-184814200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr1:184809600-184814000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:184810000-184810600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:184810000-184813200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:184810200-184811400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:184810400-184810600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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